Residential Agricultural Pesticide Exposures and Risk of Neural Tube Defects and Orofacial Clefts Among Offspring in the San Joaquin Valley of California

PubMed Central

Yang, Wei; Carmichael, Suzan L.; Roberts, Eric M.; Kegley, Susan E.; Padula, Amy M.; English, Paul B.; Shaw, Gary M.

2014-01-01

We examined whether early gestational exposures to pesticides were associated with an increased risk of anencephaly, spina bifida, cleft lip with or without cleft palate (CLP), or cleft palate only. We used population-based data along with detailed information from maternal interviews. Exposure estimates were based on residential proximity to agricultural pesticide applications during early pregnancy. The study population derived from the San Joaquin Valley, California (1997–2006). Analyses included 73 cases with anencephaly, 123 with spina bifida, 277 with CLP, and 117 with cleft palate only in addition to 785 controls. A total of 38% of the subjects were exposed to 52 chemical groups and 257 specific chemicals. There were relatively few elevated odds ratios with 95% confidence intervals that excluded 1 after adjustment for relevant covariates. Those chemical groups included petroleum derivatives for anencephaly, hydroxybenzonitrile herbicides for spina bifida, and 2,6-dinitroaniline herbicides and dithiocarbamates-methyl isothiocyanate for CLP. The specific chemicals included 2,4-D dimethylamine salt, methomyl, imidacloprid, and α-(para-nonylphenyl)-ω-hydroxypoly(oxyethylene) phosphate ester for anencephaly; the herbicide bromoxynil octanoate for spina bifida; and trifluralin and maneb for CLP. Adjusted odds ratios ranged from 1.6 to 5.1. Given that such odds ratios might have arisen by chance because of the number of comparisons, our study showed a general lack of association between a range of agricultural pesticide exposures and risks of selected birth defects. PMID:24553680

First-trimester non-systemic corticosteroid use and the risk of oral clefts in Norway

PubMed Central

Skuladottir; Wilcox; McConnaughey; Vindenes; Lie

2014-01-01

Background Exposure of pregnant mice to corticosteroids can produce oral clefts in offspring. While data in humans are more mixed, recent reports have suggested that dermatologic steroids are associated with oral clefts. Methods We investigated maternal first-trimester exposure to corticosteroids (focusing on dermatologic uses) and oral clefts in offspring using two population-based studies. The Norway Cleft Study (1996–2001) is a national case-control study including 377 infants with cleft lip +/− palate (CLP), 196 infants with cleft palate only (CPO) and 763 controls. The Norwegian Mother and Child Cohort Study (MoBa, 1998–2008), is a national birth cohort including 123 infants with CLP, 61 infants with CPO and 551 controls. Results In the case-control study, there was the suggestion of an association of dermatological corticosteroids with both CLP (adjusted OR (aOR) = 2.3, 95% confidence interval = 0.71, 7.7) and CPO (aOR = 3.4, 0.87–13). There was no evidence of this association in the cohort data (OR for CLP = 1.2; 0.50, 2.8), OR for CPO = 1.0, 0.30–3.4), although exposure to dermatological steroids was less specifically ascertained. There were no associations with other types of corticosteroids. Conclusion Our data add to the suggestive but inconsistent findings for this association. PMID:25127739

Academic achievement of children and adolescents with oral clefts.

PubMed

Wehby, George L; Collet, Brent; Barron, Sheila; Romitti, Paul A; Ansley, Timothy N; Speltz, Matthew

2014-05-01

Previous studies of academic achievement of children with oral clefts have mostly relied on small, clinic-based samples prone to ascertainment bias. In the first study in the United States to use a population-based sample with direct assessment, we evaluated the academic achievement of children with oral clefts relative to their classmates. Children born with isolated oral clefts in Iowa from 1983 to 2003 were identified from the Iowa Registry for Congenital and Inherited Disorders and matched to unaffected classmates by gender, school/school district, and month and year of birth. Academic achievement was assessed by using standardized tests of academic progress developed by the Iowa Testing Programs. Iowa Testing Programs data were linked to birth certificates for all children. Regression models controlled for household demographic and socioeconomic factors. The analytical sample included 588 children with clefts contributing 3735 child-grade observations and 1874 classmates contributing 13 159 child-grade observations. Children with oral clefts had lower scores than their classmates across all domains and school levels, with a 5-percentile difference in the overall composite score. Children with clefts were approximately one-half grade level behind their classmates and had higher rates of academic underachievement and use of special education services by 8 percentage points. Group differences were slightly lower but remained large and significant after adjusting for many background characteristics. Children with oral clefts underperformed across all academic areas and grade levels compared with their classmates. The results support a model of early testing and intervention among affected children to identify and reduce academic deficits. Copyright © 2014 by the American Academy of Pediatrics.

Comparative effectiveness studies examining patient-reported outcomes among children with cleft lip and/or palate: a systematic review.

PubMed

Ranganathan, Kavitha; Vercler, Christian J; Warschausky, Seth A; MacEachern, Mark P; Buchman, Steven R; Waljee, Jennifer F

2015-01-01

Health care policy makers are increasingly encouraging comparative effectiveness research. Little is known regarding comparative studies among children with cleft lip and/or palate. Cleft lip and/or palate profoundly influences self-perception and social functioning, and patient-reported outcomes provide a unique perspective on the success of reconstruction. The purpose of this study was to systematically review the literature regarding patient-reported outcomes among patients with cleft lip and/or palate. The authors reviewed articles from MEDLINE, Embase, and PsycInfo that examined the use of patient-reported outcome instruments for cleft lip and/or palate. Studies of patients with cleft lip and/or palate across any age that described the use of patient-completed measures in patient and control populations were included. A research librarian confirmed the search, and two independent, blinded reviewers performed full-text review. The authors identified 1979 articles and selected 30 for inclusion. Forty-two different assessment tools were used to analyze factors such as self-esteem, behavior, and social support. The Strengths and Difficulties Questionnaire was most commonly used (n = 7), followed by the Childhood Experience Questionnaire (n = 5), and the Satisfaction with Appearance survey (n = 4). Barriers to analysis included lack of standardization of survey administration, effect of publication bias, and variations in patient populations between individual studies. Comparative studies of patient-reported outcomes among patients with cleft lip and/or palate are infrequent. Many instruments exist to measure patient-reported outcomes in this population, but no specific standard exists. Identifying efficient and targeted forms of instrument selection and administration will enhance comparative studies among children with cleft lip and/or palate. Diagnostic, III.

Prevalence and evaluation of environmental risk factors associated with cleft lip and palate in a central Indian population.

PubMed

Kalaskar, Ritesh; Kalaskar, Ashita; Naqvi, Fatama Sana; Tawani, Gopal S; Walke, Damayanti R

2013-01-01

Cleft lip and palate, the most common developmental deformity seen worldwide, may be either genetic or environmental in origin. Recent research clearly shows the inter-relationship between environmental risk factors and development of oral clefts. The purpose of this study was to determine the prevalence of cleft lip and palate in the Nagpur region of India and to evaluate environmental risk factors associated with the occurrence of this orofacial abnormality. The parents of infants born with or without cleft lip and palate were subjected to questionnaires that elicited sociodemographic profiles and histories of maternal dietary, medical, and environmental risk factors as well family histories of cleft. A multifactorial comparison of environmental risk factors associated with this deformity was performed. The prevalence of cleft lip and palate and cleft palate was found to be 0.66% and 0.27%, respectively, in the Nagpur region. The results demonstrated a positive association between cleft lip and palate and the environmental risk factors of nutritional deficiency, anemia, and self-administered medications. Several environmental risk factors appear to play an important role in the development of cleft lip and palate in a Central Indian population of low socioeconomic status.

Centralization of cleft care in the UK. Part 6: a tale of two studies

PubMed Central

Ness, A R; Wills, A K; Waylen, A; Al-Ghatam, R; Jones, T E M; Preston, R; Ireland, A J; Persson, M; Smallridge, J; Hall, A J; Sell, D; Sandy, J R

2015-01-01

Structured Abstract Objectives We summarize and critique the methodology and outcomes from a substantial study which has investigated the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after the UK government started to implement the centralization of cleft care in response to an earlier survey in 1998, the Clinical Standards Advisory Group (CSAG). Setting and Sample Population A UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Data were collected from children born in the UK with a unilateral cleft lip and palate between 1 April 2005 and 31 March 2007. Materials and Methods We discuss and contextualize the outcomes from speech recordings, hearing, photographs, models, oral health and psychosocial factors in the current study. We refer to the earlier survey and other relevant studies. Results We present arguments for centralization of cleft care in healthcare systems, and we evidence this with improvements seen over a period of 15 years in the UK. We also make recommendations on how future audit and research may configure. Conclusions Outcomes for children with a unilateral cleft lip and palate have improved after the introduction of a centralized multidisciplinary service, and other countries may benefit from this model. Predictors of early outcomes are still needed, and repeated cross-sectional studies, larger longitudinal studies and adequately powered trials are required to create a research-led evidence-based (centralized) service. PMID:26567856

Prevalence of dental anomalies in a population of cleft lip and palate patients.

PubMed

Al Jamal, Ghaida A; Hazza'a, Abdalla M; Rawashdeh, Ma'amon A

2010-07-01

The aim of our study was to investigate radiographically the prevalence of dental anomalies in a group of Jordanian cleft lip and/or palate subjects. This is a retrospective review of panoramic radiographs of 78 subjects with cleft lip and/or palate that were evaluated from their file records and investigated for possible dental anomalies. Dental anomalies were found frequently in cleft lip and/or palate subjects. Missing teeth were found in 66.7% of the patients; the tooth most commonly missing was the maxillary lateral incisor. Supernumerary teeth were found in 16.7% of patients; 37% had microdontia; 70.5% had taurodontism; 30.8% had transposition and/or ectopic teeth; 19.2% had dilacerations; and 30.8% had hypoplastic teeth. There was no statistically significant difference in the above anomalies' prevalence between males and females. However, it was found that subjects with bilateral cleft lip and/or palate had significantly more microdontia (p = .005), dilaceration (p = .002), and hypoplastic teeth (p = .0001) than subjects with unilateral cleft lip and/or palate. The prevalence of dental anomalies in cleft lip and/or palate patients was higher than what had been reported in the normal Jordanian population. This emphasizes the relation of cleft lip and/or palate to all dental anomalies studied. Although our study represents a thorough and complete description of dental anomalies present in a sample of cleft lip and/or palate subjects, larger samples are required to effectively determine the relationship of each dental anomaly with cleft type.

[A retrospective study of orthodontic treatment of children with clefts].

PubMed

Brin, I; Bar-Abudi, R; Abed, Y; Ben-Bassat, Y; Harari, D; Zilberman, Y

2003-04-01

To evaluate the population of cleft patients treated in a Department of Orthodontics and the types of treatment modalities provided. Demographic, cleft related and treatment related data existing in the patients' files were supplemented by questionnaires. Comparisons were conducted among 3 cleft groups: cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). The response rate was 36% (n = 152). The distribution of the patients in the 3 cleft groups, the sidedness, the male predominance and association with additional anomalies were similar to the reports in the literature. Most of the patients were the 3rd born (or more) and were of normal birth weight. Consanguity in the cleft families was at least 2.5 times more prevalent than that of the Israeli population and 30% reported on additional cleft in the family. Low birth weight and additional anomalies were found mainly in the CP group. Orthodontic involvement spanned 3 developmental periods: immediate postnatal presurgical treatment, phase I between the ages 6-8 years and full orthodontic treatment at a later age. Up to the age of 5 years only one lip operation was performed for 60% of the lip-affected children and one palate operation for 65% of the palate affected patients. 1. The distribution of the various cleft-related parameters in this retrospective study was similar to the findings in the literature. 2. The high prevalence of additional anomalies found emphasizes the need for a thorough examination of the cleft babies. 3. Orthodontic treatment was rendered in one and two phase protocols in addition to immediate postnatal pre-surgical intervention.

The psychosocial effects of cleft lip and palate in non-Anglo populations: a cross-cultural meta-analysis.

PubMed

Hutchinson, Kathleen; Wellman, Maria A; Noe, Douglas A; Kahn, Alice

2011-09-01

A meta-analytic study was conducted to examine the cross-cultural psychosocial impact of cleft lip and/or palate in non-Anglo populations. A total of 333 citations were initially identified for review using electronic and hand-search strategies. Of the six studies that met inclusion criteria, two were later excluded due to insufficient data. The four remaining studies represented a combined sample size of 2276 adolescents and adults with cleft lip and/or palate from China, Hong Kong, Taiwan, and Norway. Effect size using Cohen's d and confidence intervals were estimated using data from four studies of empirical, controlled study designs. The magnitude of effect sizes indicated that men (d = -0.75) with cleft lip and/or palate in non-Anglo cultures are more prone to psychosocial issues than women (d = -0.33). Adults (d = -0.50) are more impacted than adolescents (d = -0.04). Overall, regardless of age, gender, or culture, individuals with cleft lip and/or palate have lower psychosocial development than individuals without cleft lip and/or palate (d = -0.42). The effects for the cross-cultural comparisons were moderated by the age group and gender of the participants; however, most studies resulted in negative effect sizes. Health care teams for cleft lip and/or palate should recognize the importance of psychological intervention and family support in the treatment of all patients with cleft lip and/or palate throughout the life span.

Breast Milk Feeding Rates in Patients With Cleft Lip and Palate at a North American Craniofacial Center.

PubMed

Alperovich, Michael; Frey, Jordan D; Shetye, Pradip R; Grayson, Barry H; Vyas, Raj M

2017-05-01

  Our study goal was to evaluate the rates of breast milk feeding among patients with oral clefts at a large North American Craniofacial Center.   Parents of patients with oral clefts born from 2000 to 2012 and treated at our center were interviewed regarding cleft diagnosis, counseling received for feeding, and feeding habits.   Data were obtained from parents of 110 patients with oral clefts. Eighty-four percent of parents received counseling for feeding a child with a cleft. Sixty-seven percent of patients received breast milk for some period of time with a mean duration of 5.3 months (range 0.25 to 18 months). When used, breast milk constituted the majority of the diet with a mean percentage of 75%. Breast milk feeding rates increased successively over the 13-year study period. The most common method of providing breast milk was the Haberman feeder at 75% with other specialty cleft bottles composing an additional 11%. Parents who received counseling were more likely to give breast milk to their infant (P = .02). Duration of NasoAlveolar Molding prior to cleft lip repair did not affect breast milk feeding length (P = .72). Relative to patients with cleft lip and palate, patients with isolated cleft lip had a breast milk feeding odds ratio of 1.71.   We present breast milk feeding in the North American cleft population. Although still lower than the noncleft population, breast milk feeding with regards to initiation rate, length of time, and proportion of total diet is significantly higher than previously reported.

School performance for children with cleft lip and palate: a population-based study.

PubMed

Bell, J C; Raynes-Greenow, C; Turner, R; Bower, C; Dodson, A; Nicholls, W; Nassar, N

2017-03-01

Educational attainment is important in shaping young people's life prospects. To investigate whether being born with orofacial cleft (OFC) affects school performance, we compared school test results between children born with and without OFC. Using record-linked datasets, we conducted a population-based cohort study of children liveborn in Western Australia 1980-2010 with a diagnosis of OFC on the Register of Developmental Anomalies, and a random sample of 6603 children born without OFC. We compared odds ratios for meeting national minimum standards in five domains (reading, numeracy, writing, spelling, grammar and punctuation), and adjusted OR (aOR) for children with cleft lip only (CLO), cleft lip and palate (CL + P) and cleft palate only (CPO) for each domain. Results from two testing programs (WALNA and NAPLAN) were available for 3238 (89%) children expected to participate. Most met the national minimum standards. Compared with children without OFC, children with CPO were less likely to meet minimum standards for NAPLAN reading (aOR 0.57 [95%CI 0.34, 0.96]) grammar and punctuation (aOR 0.49 [95%CI 0.32, 0.76]), WALNA writing (aOR 0.66 [95%CI 0.47, 0.92]), and WALNA and NAPLAN numeracy (aOR 0.64 [95%CI 0.43, 0.95] and aOR 0.47 [95%CI 0.28, 0.82]), respectively. Children with CL + P had significantly lower odds for reaching the spelling standard in NAPLAN tests (aOR 0.52 [95%CI 0.29, 0.94]). Children with CLO had similar odds for reaching all minimum standards. Children born with OFC, particularly children with CPO, should be monitored to identify learning difficulties early, to enable intervention to maximize school attainment. © 2016 John Wiley & Sons Ltd.

Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans

PubMed Central

Cooper, Margaret E.; Butali, Azeez; Standley, Jennifer; Rigdon, Jennifer; Suzuki1, Satoshi; Gongorjav, Ayana; Shonkhuuz, T. Enkhtur; Natsume, Nagato; Shi, Bing; Marazita, Mary L.; Murray, Jeffrey C.

2015-01-01

Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs which represented the most significant P value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1) and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 × 10−5, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations. PMID:25786657

Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

PubMed

Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

2018-01-22

Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants and risk/protection of nonsyndromic cleft lip with or without cleft palate. Stratified analysis showed that WNT10a rs201002930 (c.392 C>T) significantly decreased the risk of cleft lip with cleft palate and cleft palate only. In summary, the results suggest an association between WNT genes polymorphisms and the risk nonsyndromic cleft lip with or without cleft palate in a sample of the southeast Iranian population. © 2018 Japanese Teratology Society.

Nasoalveolar molding in cleft care: is it efficacious?

PubMed

Abbott, Megan M; Meara, John G

2012-09-01

In the era of evidence-based medicine, new treatment protocols and interventions should be routinely evaluated for their efficacy by reviewing the available evidence. In the cleft literature, nasoalveolar molding has garnered attention over the last decade as a new option for improving nasal form and symmetry before primary surgical repair. Systematic review of the evidence is, however, currently lacking. This review evaluates whether nasoalveolar molding can improve nasal symmetry and form toward the norm, as well as whether nasoalveolar molding demonstrates advantages over other protocols in achieving this goal. A literature search of five databases plus relevant reference lists retrieved 98 articles regarding nasoalveolar molding, 21 of which reported objective outcome measures of nasal symmetry and form, and six of which were able to be given evidence level ratings, all in the unilateral cleft population. Statistical analysis was not possible given the range of techniques and outcomes. Studies of bilateral cleft were not given evidence level ratings, given the inability to separate the effects of nasoalveolar molding from other primary nasal interventions in studies that would have otherwise been rated. In unilateral cleft lip-cleft palate, there was some evidence that nasoalveolar molding may improve nasal outcomes, though comparison with other techniques was limited. Despite a relative paucity of high-level evidence, nasoalveolar molding appears to be a promising technique that deserves further study.

The Slav-cleft: A three-center study of the outcome of treatment of cleft lip and palate. Part 1: Craniofacial morphology.

PubMed

Urbanova, Wanda; Klimova, Irena; Brudnicki, Andrzej; Polackova, Petra; Kroupova, Daniela; Dubovska, Ivana; Rachwalski, Martin; Fudalej, Piotr Stanislaw

2016-11-01

Results of a comparison of the outcomes of treatment of cleft lip and palate can be affected by growth characteristics of populations from which subjects with the clefts are derived. Moreover, conventional cephalometric techniques used in cleft studies for analysis of facial morphology provide only a partial description of shape and are confounded by biases regarding the reference structures. In this retrospective comparison, craniofacial morphology of preadolescent patients with unilateral cleft lip and palate treated in Warsaw (n = 35, age = 10.6 years, SD = 1.2), Prague (n = 38, age = 11.6 years, SD = 1.4), and Bratislava (n = 26, age = 10.5 years, SD = 1.6) were evaluated on cephalograms with the cephalometric method used in the Eurocleft study and geometric morphometrics. We found that patients treated in Warsaw showed slightly more favorable outcomes than in Prague and Bratislava. The differences were related primarily to the position of maxillary alveolar process, cranial base, mandibular angle, and soft tissues. Although no association between a component of treatment protocol and the outcome was found, it is possible that organizational factors such as participation of high-volume, experienced surgeons contributed to these results. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

The Smile Index: Part 1. A Large-Scale Study of Phenotypic Norms for Preoperative and Postoperative Unilateral Cleft Lip.

PubMed

Yao, Caroline A; Imahiyerobo, Thomas; Swanson, Jordan; Auslander, Allyn; De Cardenas, Diego; Figueiredo, Jane C; McCullough, Meghan; Costa, Melinda; Vanderburg, Richard; Magee, William P

2018-01-01

Unilateral cleft lip has a spectrum of disease morphology, but severity classifications are difficult given the absence of accessible, objective assessment tools or reference data. The authors characterize the spectrum of cleft morphology before and after surgical repair for a large, multi-ethnic population using easily identifiable facial landmarks collected through a novel smart phone-based application. Anthropometric measurements and standardized photographs were prospectively collected in Morocco, Bolivia, Vietnam, and Madagascar during medical missions in 2015 using an application designed specifically for the study. After data collection, two experienced cleft surgeons and two laypersons subjectively ranked photographs based on the degree of deformity/aesthetics. One hundred forty-seven patients were analyzed. Mean preoperative cleft width ratio was 0.4 ± 0.12. Nasolabial symmetry improved significantly from preoperatively to postoperatively for the following measurements: columellar angle (65 ± 17 degrees to 87 ± 8 degrees), nostril width ratio (1.7 ± 0.68 to 1.0 ± 0.22), philtral height ratio (0.8 ± 0.14 to 1.0 ± 0.14), and lip length ratio (0.9 ± 0.26 to 1.0 ± 0.11) (p < 0.001). Surgeon and layperson rankings showed high inter-rater reliability (r = 0.64, p < 0.001). Preoperatively, multivariate regression showed that cleft width ratio, nostril width ratio, and philtral height ratio were predictive of rank (p < 0.01). Postoperatively, philtral height ratio was most predictive of rank (p = 0.0097). Most cleft characteristics were not significantly different between countries. The authors present simpler, more straightforward measures to quantify preoperative and postoperative morphology/aesthetics and introduce a novel technology to streamline and standardize measurements to make data collection more accessible.

Dental anomalies associated with cleft lip and palate in Northern Finland.

PubMed

Lehtonen, V; Anttonen, V; Ylikontiola, L P; Koskinen, S; Pesonen, P; Sándor, G K

2015-12-01

Despite the reported occurrence of dental anomalies of cleft lip and palate, little is known about their prevalence in children from Northern Finland with cleft lip and palate. The aim was to investigate the prevalence of dental anomalies among patients with different types of clefts in Northern Finland. Design and Statistics: patient records of 139 subjects aged three years and older (with clefts treated in Oulu University Hospital, Finland during the period 1996-2010 (total n. 183) were analysed for dental anomalies including the number of teeth, morphological and developmental anomalies and their association with the cleft type. The analyses were carried out using Chi-square test and Fisher's exact test. Differences between the groups were considered statistically significant at p values < 0.05. More than half of the patients had clefts of the hard palate, 18% of the lip and palate, and 13% of the lip. At least one dental anomaly was detected in 47% of the study population. Almost one in three (26.6%) subjects had at least one anomaly and 17.9% had two or three anomalies. The most common type of anomaly in permanent teeth were missing teeth followed by supernumerary teeth. Supernumerary teeth were significantly more apparent when the lip was involved in the cleft compared with palatal clefts. Missing teeth were less prevalent among those 5 years or younger. The prevalence of different anomalies was significantly associated with the cleft type in both age groups. Dental anomalies are more prevalent among cleft children than in the general population in Finland. The most prevalent anomalies associated with cleft were missing and supernumerary teeth.

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

PubMed Central

Marazita, Mary L.

2013-01-01

Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. PMID:22703175

Dental Anomalies in a Brazilian Cleft Population.

PubMed

Sá, Jamile; Mariano, Lorena C; Canguçu, Daiane; Coutinho, Thaynara S L; Hoshi, Ryuichi; Medrado, Alena Peixoto; Martelli-Junior, Hercílio; Coletta, Ricardo D; Reis, Silvia R A

2016-11-01

  The aim of this study was to radiographically investigate the prevalence of dental anomalies outside the cleft area in a group of Brazilian patients with nonsyndromic cleft lip and/or palate (NSCL/P).   A retrospective analysis of 207 panoramic radiographs of patients with NSCL/P aged 12 to 45 years without history of tooth extraction and orthodontic treatment was performed.   Dental anomalies were found in 75.4% of the patients, and tooth agenesis (29.2%) and supernumerary tooth (2.6%) were the most common anomalies. The risk of agenesis was higher among the individuals with cleft palate (CP) compared with individuals with cleft lip (CL) and cleft lip and palate (CLP) (agenesis: CP versus CL: odds ratio 6.27, 95% confidence interval 2.21-17.8, P = .0003; CP versus CLP: odds ratio 2.94; 95% confidence interval 1.27-6.81, P = .01). The frequency of dental agenesis was higher in patients with unilateral complete CLP (agenesis: P < .0001), incomplete bilateral CLP (agenesis: P = .0013), complete CP (agenesis: P < .0001), and incomplete CP (agenesis: P < .0001). The frequency of supernumerary teeth was higher in patients with bilateral complete CLP (P < .0001). The frequency of dental agenesis (P < .0001) and ectopic tooth (P = .009) was higher than the frequency estimated for general population.   The prevalence of dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

The Cleft Care UK study. Part 4: perceptual speech outcomes

PubMed Central

Sell, D; Mildinhall, S; Albery, L; Wills, A K; Sandy, J R; Ness, A R

2015-01-01

Structured Abstract Objectives To describe the perceptual speech outcomes from the Cleft Care UK (CCUK) study and compare them to the 1998 Clinical Standards Advisory Group (CSAG) audit. Setting and sample population A cross-sectional study of 248 children born with complete unilateral cleft lip and palate, between 1 April 2005 and 31 March 2007 who underwent speech assessment. Materials and methods Centre-based specialist speech and language therapists (SLT) took speech audio–video recordings according to nationally agreed guidelines. Two independent listeners undertook the perceptual analysis using the CAPS-A Audit tool. Intra- and inter-rater reliability were tested. Results For each speech parameter of intelligibility/distinctiveness, hypernasality, palatal/palatalization, backed to velar/uvular, glottal, weak and nasalized consonants, and nasal realizations, there was strong evidence that speech outcomes were better in the CCUK children compared to CSAG children. The parameters which did not show improvement were nasal emission, nasal turbulence, hyponasality and lateral/lateralization. Conclusion These results suggest that centralization of cleft care into high volume centres has resulted in improvements in UK speech outcomes in five-year-olds with unilateral cleft lip and palate. This may be associated with the development of a specialized workforce. Nevertheless, there still remains a group of children with significant difficulties at school entry. PMID:26567854

Prenatal diagnosis of orofacial clefts: association with maternal satisfaction, team care, and treatment outcomes.

PubMed

Robbins, James M; Damiano, Peter; Druschel, Charlotte M; Hobbs, Charlotte A; Romitti, Paul A; Austin, April A; Tyler, Margaret; Reading, J Alex; Burnett, Whitney

2010-09-01

Prenatal diagnosis of an orofacial cleft is thought to allow mothers greater opportunity to become prepared for the special needs of an infant with a cleft and plan for the care of their child. Using a population-based sample, we determined which children were more likely to be diagnosed prenatally, and whether early diagnosis was associated with maternal satisfaction and treatment outcomes. Interviews were completed with 235 (49% of eligible) mothers of children ages 2 to 7 with orofacial clefts initially enrolled in the National Birth Defects Prevention Study from the Arkansas, Iowa, and New York sites. Maternal satisfaction with information, support, and treatment outcomes was compared between women who received a prenatal diagnosis and those who did not. Of 235 infants with clefts, 46 (19.6%) were identified prenatally. One third of mothers were somewhat or not satisfied with information provided by medical staff. Satisfaction did not vary by timing of the diagnosis. Infants diagnosed prenatally were no more likely to have received care provided by a recognized multidisciplinary cleft team (76%) than were infants diagnosed at birth (78%). Speech problems and facial appearance as rated by the mother did not vary by timing of the diagnosis. Timing of the cleft diagnosis did not alter maternal satisfaction with information, whether care was provided by a designated cleft team, or maternal perception of facial appearance or speech. Further research should determine whether prenatal diagnoses alter maternal anxiety or influence postnatal morbidity.

Hearing outcomes in patients with cleft lip/palate.

PubMed

Skuladottir, Hildur; Sivertsen, Ase; Assmus, Jorg; Remme, Asa Rommetveit; Dahlen, Marianne; Vindenes, Hallvard

2015-03-01

Objective : Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only. Design : Retrospective chart review. Setting : Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up. Participants : The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate. Main Outcome Measures : Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years. Results : The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months. Conclusions : Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

PubMed

Lansdon, Lisa A; Darbro, Benjamin W; Petrin, Aline L; Hulstrand, Alissa M; Standley, Jennifer M; Brouillette, Rachel B; Long, Abby; Mansilla, M Adela; Cornell, Robert A; Murray, Jeffrey C; Houston, Douglas W; Manak, J Robert

2018-01-01

Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants (CNVs) that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 nonsyndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case that removes putative 3' regulatory information. Isthmin 1 is a strong candidate for clefting, as it is expressed in orofacial structures derived from the first branchial arch and is also in the same "synexpression group" as fibroblast growth factor 8 and sprouty RTK signaling antagonist 1a and 2 , all of which have been associated with clefting. CNVs affecting Isthmin 1 are exceedingly rare in control populations, and Isthmin 1 scores as a likely haploinsufficiency locus. Confirming its role in craniofacial development, knockdown or clustered randomly interspaced short palindromic repeats/Cas9-generated mutation of isthmin 1 in Xenopus laevis resulted in mild to severe craniofacial dysmorphologies, with several individuals presenting with median clefts. Moreover, knockdown of isthmin 1 produced decreased expression of LIM homeobox 8 , itself a gene associated with clefting, in regions of the face that pattern the maxilla. Our study demonstrates a successful pipeline from CNV identification of a candidate gene to functional validation in a vertebrate model system, and reveals Isthmin 1 as both a new human clefting locus as well as a key craniofacial patterning gene. Copyright © 2018 by the Genetics Society of America.

Maxillary dental anomalies in patients with cleft lip and palate: a cone beam computed tomography study.

PubMed

Celikoglu, M; Buyuk, S K; Sekerci, A E; Cantekin, K; Candirli, C

2015-01-01

To compare the frequency of maxillary dental anomalies in patients affected by unilateral (UCLP) and bilateral (BCLP) cleft lip with palate and to determine whether statistical differences were present or not between cleft and normal sides in UCLP group by using cone beam computed tomography (CBCT). In addition, the frequency of those dental anomalies was compared with previous studies presenting the same population without cleft Study Design: Fifty non-syndromic patients affected by UCLP (28 patients) and BCLP (22 patients) were selected for analysis of dental anomalies by means of CBCT. The frequency of maxillary dental anomalies including tooth agenesis, microdontia of lateral incisor, ectopic eruption and impaction of canine and supernumerary tooth were examined. Pearson chi-square and Fisher's exact tests were performed for statistical comparisons. All patients affected by UCLP and BCLP were found to have at least one maxillary dental anomaly. The most frequently observed dental anomaly was tooth agenesis (92.5% and 86.4%, respectively) in UCLP and BCLP groups. Tooth agenesis and canine impaction were observed more commonly in the cleft side (75.0% and 35.7%, respectively) than in the normal side (57.1% and 14.3%, respectively) in UCLP group (p≯0.05). All dental anomalies were found to be higher in both cleft groups than in general populations not affected by cleft. Since patients affected by UCLP and BCLP had at least one dental anomaly and higher dental anomaly frequency as compared to patients without cleft, those patients should be examined carefully prior to orthodontic treatment.

Burden of Oral Diseases in Iran, 1990-2010: Findings from the Global Burden of Disease Study 2010.

PubMed

Shoaee, Shervan; Ghasemian, Anoosheh; Mehrabani, Kamran; Naderimagham, Shohreh; Delavari, Farnaz; Sheidaei, Ali; Hajizadeh, Nastaran; Varmaghani, Mehdi; Hessari, Hossein

2015-08-01

Oral diseases, as a group of chronic diseases, are among the major public health problems that lead to disability throughout the world. The major part of burden of oral diseases is caused by dental caries, periodontal diseases, edentulism, mouth cancer, cleft lip, and cleft palate. The aim of the present paper is to report the global results for the burden of oral disease in Iran from 1990 to 2010, derived from GBD study 2010 by sex and age. The Global Burden of Disease Study 2010 (GBD 2010) was a systematic effort with a common framework to estimate disability adjusted life years (DALYs) for diseases in different parts of the world. Years of life lost due to premature mortality (YLLs) were assessed based on cause-of-death estimates and by means of a cause of death ensemble model (CODEm). Years of life lost due to disability (YLDs) were computed by multiplying the prevalence, the disability weight for a sequel, and the duration of symptoms. A systematic review of published and unpublished data was conducted to estimate disease distribution using a Bayesian meta-regression method (DisMod-MR). Disability weights were measured by collecting data from population-based surveys. In this paper, we describe the results of GBD 2010 regarding oral diseases in Iran, critique the results, and provide some recommendations. Between 1990 and 2010 in Iran, an increase occurred in DALYs at all ages, attributed to dental caries (from 37,230 to 56,521) as well as periodontal diseases (from 21,482 to 43,308), and a decrease was found for edentulism (from 53,134 to 47,960). DALYs at all ages attributed to mouth cancer increased (from 5,597 to 7,771), while a decline was noted for cleft lip and cleft palate (from 6,157 to 5,034). The age-standardized DALY rates per 100,000 population did not considerably change for dental caries and periodontal diseases, while edentulism showed a reduction. The corresponding DALY rate due to mouth cancer decreased, while it remained almost unchanged for cleft lip and cleft palate over this period. DALY rates per 100,000 population due to dental caries and edentulism were higher among Iranian women than for Iranian men at all ages, while Iranian men suffered from a higher burden of periodontal disease, mouth cancer, cleft lip, and cleft palate. The most significant burden due to dental caries and periodontal diseases was found in Iranians aged 15-49 and 50-69 years, respectively and edentulism and mouth cancer led to the highest burden in Iranians older than 70 years of age. The highest burden caused by cleft lip and cleft palate occurred in children younger than 5 years old. The findings address the challenging changes in oral diseases and difficulties in responding to the urgent oral health needs in Iran. The burden of oral diseases should be considered as a priority in Iran. A need also exists to pay more attention to the oral health policies and principles of preventive oral care. Global analyses of disease burdens provide a useful framework to guide a suitable policy in response to disease changes. In fact, strong national and sub-national analyses will be required to provide more effective public health strategies.

Excess Maternal Transmission of Markers in TCOF1 Among Cleft Palate Case-Parent Trios From Three Populations

PubMed Central

Sull, Jae Woong; Liang, Kung-Yee; Hetmanski, Jacqueline B.; Fallin, M. Daniele; Ingersoll, Roxanne G.; Park, Ji Wan; Wu-Chou, Yah-Huei; Chen, Philip K.; Chong, Samuel S.; Cheah, Felicia; Yeow, Vincent; Park, Beyoung Yun; Jee, Sun Ha; Jabs, Ethylin W.; Redett, Richard; Scott, Alan F.; Beaty, Terri H.

2009-01-01

Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models. This study tests for association between markers in TCOF1 and isolated, nonsyndromic cleft palate using a case-parent trio design considering parent-of-origin effects. Case-parent trios from three populations (comprising a total of 81 case-parent trios) were genotyped for single nucleotide polymorphisms (SNPs) in the TCOF1 gene. We used the transmission disequilibrium test and the transmission asymmetry test on individual SNPs. When all trios were combined, the odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs15251 (OR = 2.88, P = 0.007), as well as rs2255796 and rs2569062 (OR = 2.08, P = 0.03; OR = 2.43, P = 0.041; respectively) when parent of origin was not considered. The transmission asymmetry test also revealed one SNP (rs15251) showing excess maternal transmission significant at the P = 0.005 level (OR = 6.50). Parent-of-origin effects were assessed using the parent-of-origin likelihood ratio test on both SNPs and haplotypes. While the parent-of-origin likelihood ratio test was only marginally significant for this SNP (P = 0.136), analysis of haplotypes of rs2255796 and rs15251 suggested excess maternal transmission. Therefore, these data suggest TCOF1 may influence risk of cleft palate through a parent-of-origin effect. PMID:18688869

Prevalence of dental anomalies of number in different subphenotypes of isolated cleft palate.

PubMed

Schwartz, João Paulo; Somensi, Daniele Salazar; Yoshizaki, Priscila; Reis, Luciana Laís Savero; de Cássia Moura Carvalho Lauris, Rita; da Silva Filho, Omar Gabriel; Dalbén, Gisele; Garib, Daniela Gamba

2014-01-01

This study aimed at carrying out a radiographic analysis on the prevalence of dental anomalies of number (agenesis and supernumerary teeth) in permanent dentition, in different subphenotypes of isolated cleft palate preadolescent patients. Panoramic radiographs of 300 patients aged between 9 and 12 years, with cleft palate and enrolled in a single treatment center, were retrospectively analyzed. The sample was divided into two groups according to the extension/severity of the cleft palate: complete and incomplete. The chi-square test was used for intergroup comparison regarding the prevalence of the investigated dental anomalies (P<0.05). Agenesis was found in 34.14% of patients with complete cleft palate and in 30.27% of patients with incomplete cleft palate. Supernumerary teeth were found in 2.43% of patients with complete cleft palate and in 0.91% of patients with incomplete cleft palate. No statistically significant difference was found between groups with regard to the prevalence of agenesis and supernumerary teeth. There was no difference in cleft prevalence between genders within each study group. The prevalence of dental anomalies of number in preadolescents with cleft palate was higher than that reported for the general population. The severity of cleft palate did not seem to be associated with the prevalence of dental anomalies of number.

Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

DOE Office of Scientific and Technical Information (OSTI.GOV)

Stein, J.D.; Nelson, L.D.; Conner, B.J.

1994-09-01

Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B,more » twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.« less

Prevalence of abnormalities in dental structure, position, and eruption pattern in a population of unilateral and bilateral cleft lip and palate patients.

PubMed

Tortora, Chiara; Meazzini, Maria C; Garattini, Giovanna; Brusati, Roberto

2008-03-01

To evaluate the dental characteristics of patients subjected to a protocol that included early secondary gingivoalveoloplasty (ESGAP). Panoramic radiographs of 87 patients with unilateral cleft lip and palate (UCLP) and 29 with bilateral cleft lip and palate (BCLP) were evaluated. Missing and supernumerary teeth were also quantified on the cleft and noncleft side and in the maxilla and mandible. Crown and root malformations and tooth rotations were quantified. A subsample in permanent dentition was extrapolated to analyze canine eruption patterns. A total of 48.8% of the UCLP patients presented with missing permanent lateral incisors in the cleft area and 6.1% contralaterally. A total of 4.9% presented with missing second maxillary premolars on the cleft site and 1.2% contralaterally. A total of 7.3% presented with supernumerary lateral incisors, and 45% of the BCLP cleft sites presented with missing lateral incisors, while 25% of the cleft sites presented second maxillary premolars agenesis. Five percent of the cleft sites presented with supernumerary lateral incisors. Evaluation of the subsample in permanent dentition showed that 15.5% had a canine retention and 4.4% of the canines had to be surgically exposed. A significant association was observed between canine inclination and retention but not with absence of the lateral incisor. The frequency of dental anomalies in this sample was similar to other cleft populations. As surgical trauma has been suggested to damage forming teeth, the results of this study indicated that ESGAP has no detrimental influence on subsequent dental development.

Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

PubMed

Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

2017-10-14

To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

"Superior cleft sign" as a marker of rectus abdominus/adductor longus tear in patients with suspected sportsman's hernia.

PubMed

Murphy, Grainne; Foran, Paul; Murphy, Darra; Tobin, Oliver; Moynagh, Michael; Eustace, Stephen

2013-06-01

We describe a new imaging sign, the "superior cleft sign", identified at both symphysography and MRI, which should be used as a marker of rectus abdominis/adductor longus attachment tearing. A study population of 25 patients presenting with clinically suspected sportsman's hernia, who had undergone both symphysography and MRI of the groin were included for study. In each case, images were reviewed to determine the presence of a superior cleft, secondary cleft, and or both abnormalities. Images of all patients complaining of groin crease discomfort similar to sportsman's hernia revealed the presence of a superior cleft at the rectus abdominis/adductor longus attachment. This "superior cleft sign" correlated with the side of symptoms in each case, and, in contrast to the previously described secondary cleft along the inferior margin of the inferior pubic ramus, occurred parallel to the inferior margin of the superior pubic ramus. The presence of the "superior cleft sign" should be sought in addition to the previously described secondary cleft sign in sportspeople presenting with exercise-related groin pain or pubalgia. It should specifically be sought in patients referred with suspected sportsman's hernia.

A Population-Based Exploration of the Social Implications Associated with Cleft Lip and/or Palate.

PubMed

Glener, Adam D; Allori, Alexander C; Shammas, Ronnie L; Carlson, Anna R; Pien, Irene J; Aylsworth, Arthur S; Meyer, Robert; Pimenta, Luiz; Strauss, Ronald; Watkins, Stephanie; Marcus, Jeffrey R

2017-06-01

Clefts of the lip and/or palate (CL/P) carry a social stigma that often causes psychosocial stress. The purpose of this study was to consider the association of cleft phenotype and age with self-reported aspects of psychosocial stress. Children with nonsyndromic CL/P and unaffected children born between 1997 and 2003 were identified through the North Carolina Birth Defects Monitoring Program and North Carolina birth records, respectively. The psychosocial concerns of children with CL/P were assessed via a 29-question subset of a larger survey. Responses were analyzed according to school age and cleft phenotype (cleft lip with/without cleft alveolus, CL ± A; cleft palate only, CP; or cleft lip with cleft palate, CL + P). Surveys were returned for 176 children with CL/P and 333 unaffected children. When compared with unaffected children, responses differed for CL ± A in 4/29 questions, for CP in 7/29 questions, and for CL + P in 8/29 questions ( P < 0.05). When stratified by school age, children with CL/P in elementary, middle, and high school differed from unaffected children by 1/29, 7/29, and 2/29 questions, respectively. Middle school-aged children with CL/P were more affected by aesthetic concerns, bullying, and difficulties with friendship, and social interaction. Children with CL + P reported more severe aesthetic-related concerns than children with CL ± A or CP but experienced similar speech-related distress as children with CP only. Social implications associated with CL/P are most pronounced during middle school, and less so during elementary and high school. This information identifies areas of social improvement aimed at reducing the stigma of CL/P.

Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Jara, L.; Blanco, R.; Chiffelle, I.

1995-07-17

Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected ({chi}{sub 2} = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but not support the hypothesis that TGFA is a major causal gene of CL(P).more » 29 refs., 5 tabs.« less

Postpartum Depression in Mothers of Infants With Cleft Lip and/or Palate.

PubMed

Johns, Alexis L; Hershfield, Jennifer A; Seifu, Netsanet Mulugeta; Haynes, Karla A

2018-02-23

This study describes postpartum depression rates and risk factors for mothers with infants with cleft lip and/or palate as postpartum depression has been associated with a range of negative maternal and child outcomes. A retrospective chart review from August 2009 to May 2015 included medical diagnoses, demographics, receipt of prenatal diagnosis, and the Edinburgh Postnatal Depression Scale (EPDS). Mothers (N = 206) had infants (59.2% male; mean age in weeks 5.1 ± 6.9) with isolated cleft lip (18%), cleft palate (22.8%), or cleft lip and palate (59.2%). Mothers ranged from 16 to 45 years old (mean age 29 ± 6.2) and half had received a prenatal diagnosis. Patients mostly had public insurance (57.8%) and represented diverse ethnicities. Based on the EPDS, 11.7% of mothers met the depression cutoff of 10 or higher. The majority endorsed self-blame (68.9%), difficulty coping (59.2%), and feeling anxious (57.3%). Mothers of infants with cleft lip or cleft lip and palate who did not receive a prenatal diagnosis had higher total EPDS scores, anxiety, and incidence of feeling scared. Higher EPDS scores were predicted by not having a prenatal diagnosis and by older maternal age. Mothers of infants with a cleft had similar rates of postpartum depression as the general population; however, those who were older and who did not receive a prenatal diagnosis endorsed more symptoms. Prenatal diagnosis may contribute to positive maternal postpartum adjustment. Providers should incorporate screening for risk factors into their evaluation and treatment planning.

Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population.

PubMed

Paranaiba, Lívia Máris Ribeiro; Coletta, Ricardo D; Swerts, Mário Sérgio Oliveira; Quintino, Rafaela Pacífico; de Barros, Letízia Monteiro; Martelli-Júnior, Hercílio

2013-07-01

Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30 years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p  =  .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p  =  .00002), and individuals with unilateral complete cleft lip and palate (p  =  .002) and complete cleft palate (p  =  .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p  =  .043) and maxillary lateral incisors (p  =  .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for individuals affected by nonsyndromic cleft lip and/or palate.

Providing more than health care: the dynamics of humanitarian surgery efforts on the local microeconomy.

PubMed

Nagengast, Eric S; Caterson, E J; Magee, William P; Hatcher, Kristin; Ramos, Margarita S; Campbell, Alex

2014-09-01

Humanitarian cleft surgery has long been provided by teams from resource-rich countries traveling for short-term missions to resource-poor countries. After identifying an area of durable unmet need through surgical missions, Operation Smile constructed a permanent center for cleft care in Northeast India. The Operation Smile Guwahati Comprehensive Cleft Care Center (GCCCC) uses a high-volume subspecialized institution to provide safe, quality, comprehensive, and cost-effective cleft care to a highly vulnerable patient population in Assam, India. The purpose of this study was to profile the expenses of several cleft missions carried out in Assam and to compare these to the expenditures of the permanent comprehensive cleft care center. We reviewed financial data from 4 Operation Smile missions in Assam between December 2009 and February 2011 and from the GCCCC for the 2012-2013 fiscal year. Expenses from the 2 models were categorized and compared. In the studied period, 33% of the mission expenses were spent locally compared to 94% of those of the center. The largest expenses in the mission model were air travel (48.8%) and hotel expenses (21.6%) for the team, whereas salaries (46.3%) and infrastructure costs (19.8%) made up the largest fractions of expenses in the center model. The evolution from mission-based care to a specialty hospital model in Guwahati incorporated a transition from vertical inputs to investments in infrastructure and human capital to create a sustainable local care delivery system.

One-Stage Cleft Lip and Palate Repair in an Older Population.

PubMed

Guneren, Ethem; Canter, Halil Ibrahim; Yildiz, Kemalettin; Kayan, Resit Burak; Ozpur, Mustafa Aykut; Baygol, Emre Gonenc; Sagir, Haci Omer; Kuzu, Ismail Melih; Akman, Onur; Arslan, Serap

2015-07-01

In underdeveloped countries one-stage definitive repair of cleft lip and palate is considered for late-presenting patients. A total of 25 patients with unoperated cleft lip and palate more than 2 years of age were enrolled in this study for one-stage simultaneous repair of cleft lip and palate. According to Veau-Wardill-Kilner push-back technique, 2 flap palatoplasties were performed for palatal repairs; all of the lips were repaired with the Millard II rotation-advancement technique. The authors experienced no perioperative or postoperative life-threatening complications. With respect to the registered operation periods, longer times were required to perform these double operations, but this elongation is shorter than the sum of the periods if the 2 operations had been performed separately. Although the authors were unable to evaluate the late postoperative results because the authors could not follow-up the patients after they were discharged the day after surgery, the early results related to the success of the operation without any surgical complication were prone to meet the parents' and patients' expectations. The authors presented their experiences with many volunteer cleft lip and palate trips to third world countries; however the structure of this article is not a new hypothesis and data based to support a scientific study, but observations are objective to get a conclusion. To perform one-stage definitive repair of the cleft lip and palate in late-presented patients was the reality that they had only 1 chance to undergo these operations. According to the terms and conditions of this challenging operation, one-stage simultaneous repair of cleft lip and palate is a more demanding and time-consuming procedure than is isolated cleft lip repair or cleft palate repair. Although technically challenging, single-stage repair of the whole deformity in late-presenting patients is a feasible, reliable, successful, and safe procedure in authors' experience.

Fluconazole use and birth defects in the National Birth Defects Prevention Study.

PubMed

Howley, Meredith M; Carter, Tonia C; Browne, Marilyn L; Romitti, Paul A; Cunniff, Christopher M; Druschel, Charlotte M

2016-05-01

Low-dose fluconazole is used commonly to treat vulvovaginal candidiasis, a condition occurring frequently during pregnancy. Conflicting information exists on the association between low-dose fluconazole use among pregnant women and the risk of major birth defects. We used data from the National Birth Defects Prevention Study to examine this association. The National Birth Defects Prevention Study is a multisite, population-based, case-control study that includes pregnancies with estimated delivery dates from 1997 to 2011. Information on fluconazole use in early pregnancy was collected by self-report from 31,645 mothers of birth defect cases and 11,612 mothers of unaffected controls. Adjusted odds ratios and 95% confidence intervals were estimated for birth defects with 5 or more exposed cases; crude odds ratios and exact 95% confidence intervals were estimated for birth defects with 3-4 exposed cases. Of the 43,257 mothers analyzed, 44 case mothers and 6 control mothers reported using fluconazole. Six exposed infants had cleft lip with cleft palate, 4 had an atrial septal defect, and each of the following defects had 3 exposed cases: hypospadias, tetralogy of Fallot, d-transposition of the great arteries, and pulmonary valve stenosis. Fluconazole use was associated with cleft lip with cleft palate (odds ratio = 5.53; confidence interval = 1.68-18.24) and d-transposition of the great arteries (odds ratio = 7.56; confidence interval = 1.22-35.45). The associations between fluconazole and both cleft lip with cleft palate and d-transposition of the great arteries are consistent with earlier published case reports but not recent epidemiologic studies. Despite the larger sample size of the National Birth Defects Prevention Study, fluconazole use was rare. Further investigation is needed in large studies, with particular emphasis on oral clefts and conotruncal heart defects. Copyright © 2016 Elsevier Inc. All rights reserved.

Oral clefting in china over the last decade: 205,679 patients.

PubMed

Kling, Rochelle R; Taub, Peter J; Ye, Xiaoqian; Jabs, Ethylin Wang

2014-10-01

China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing.

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.

PubMed

Sull, Jae Woong; Liang, Kung-Yee; Hetmanski, Jacqueline B; Fallin, M Daniele; Ingersoll, Roxanne G; Park, Ji Wan; Wu-Chou, Yah-Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Park, Beyoung Yun; Jee, Sun Ha; Jabs, Ethylin W; Redett, Richard; Scott, Alan F; Beaty, Terri H

2008-09-15

Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models. This study tests for association between markers in TCOF1 and isolated, nonsyndromic cleft palate using a case-parent trio design considering parent-of-origin effects. Case-parent trios from three populations (comprising a total of 81 case-parent trios) were genotyped for single nucleotide polymorphisms (SNPs) in the TCOF1 gene. We used the transmission disequilibrium test and the transmission asymmetry test on individual SNPs. When all trios were combined, the odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs15251 (OR = 2.88, P = 0.007), as well as rs2255796 and rs2569062 (OR = 2.08, P = 0.03; OR = 2.43, P = 0.041; respectively) when parent of origin was not considered. The transmission asymmetry test also revealed one SNP (rs15251) showing excess maternal transmission significant at the P = 0.005 level (OR = 6.50). Parent-of-origin effects were assessed using the parent-of-origin likelihood ratio test on both SNPs and haplotypes. While the parent-of-origin likelihood ratio test was only marginally significant for this SNP (P = 0.136), analysis of haplotypes of rs2255796 and rs15251 suggested excess maternal transmission. Therefore, these data suggest TCOF1 may influence risk of cleft palate through a parent-of-origin effect. Copyright 2008 Wiley-Liss, Inc.

RELATIONAHIP BETWEEN AMBIENT AIR QUALITY AND SELECTED BIRTH DEFECTS, SEVEN COUNTY STUDY, TEXAS, 1997-2000

EPA Science Inventory

A population-based case-control study investigated the association between maternal exposure to criteria air pollutants, CO, NO2, O3, SO2, and PM10 during weeks three through eight of pregnancy, and the risk of selected cardiac birth defects and oral clefts among live births and ...

Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing.

PubMed

Carlson, Jenna C; Taub, Margaret A; Feingold, Eleanor; Beaty, Terri H; Murray, Jeffrey C; Marazita, Mary L; Leslie, Elizabeth J

2017-07-17

Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs. Moreover, NSCL/P is twice as common in males as in females. The goal of this study is to discover genetic variants that have different effects in case subgroups. We conducted both common variant and rare variant analyses in 1034 individuals of Asian ancestry with NSCL/P, examining four sources of heterogeneity within CL/P: cleft type, sex, laterality, and side. We identified several regions associated with subtype differentiation: cleft type differences in 8q24 (p = 1.00 × 10 -4 ), laterality differences in IRF6, a gene previously implicated with wound healing (p = 2.166 × 10 -4 ), sex differences and side of unilateral CL differences in FGFR2 (p = 3.00 × 10 -4 ; p = 6.00 × 10 -4 ), and sex differences in VAX1 (p < 1.00 × 10 -4 ) among others. Many of the regions associated with phenotypic modification were either adjacent to or overlapping functional elements based on ENCODE chromatin marks and published craniofacial enhancers. We have identified multiple common and rare variants as potential phenotypic modifiers of NSCL/P, and suggest plausible elements responsible for phenotypic heterogeneity, further elucidating the complex genetic architecture of OFCs. Birth Defects Research 109:1030-1038, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen.

PubMed

Esmail, Ahlam Hibatulla Ali; Abdo, Muhgat Ahmed Ali; Krentz, Helga; Lenz, Jan-Hendrik; Gundlach, Karsten K H

2014-06-01

The purpose of the study was to report the types and patterns of cleft lip with/without cleft alveolus and palate as well as cleft palate only as seen in Aden, Yemen. Retrospective, centre-based study conducted at the Cleft Lip and Palate Centre, Aden University, Yemen. Statistical evaluation of the data from all cleft patients who were registered at or referred to this centre during the years 2005-2011. A total of 1110 cleft patients were seen during the period studied (2005-2011). Amongst these there were 183 (16.48%) with a cleft lip and 144 (12.98) with a cleft of lip and alveolus, 228 (20.54%) had a cleft palate, and 555 (50%) had a combination of cleft lip, alveolus, and palate. The clefts were found more often in males than in females (56.5% boys versus 43.5% girls). This difference was statistically significant (p ≤ 0.001). Statistically significant sex differences were also noted when evaluating the various cleft types. Isolated cleft palates were found most often in females. Among the cleft palate cases there were 102 (9.2%) with a cleft soft palate only. The ages of the patients were between one day and 40 years. Two hundred and one children (18%) had a positive family history of clefts. Among the risk factors considered in this study, consanguineous marriages among cousins were found most frequently (in 48% of the cases). In contrast to this, only 10% of the mothers had reported to have been taking medication directly prior to or during the first trimester of their pregnancy. On average the mothers were neither very young nor very old. The prevalence rate of orofacial cleft types among this Yemeni sample was similar to prevalence rates previously reported in white Caucasians. The present study did neither find many cases with medication before, nor during, pregnancy; there were few young or very old mothers; and the incidence of positive family histories was similar to those found in other studies on clefts. However, consanguineous marriages were encountered quite often. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Is gravidity 4+ a risk factor for oral clefts? A case-control study in eight South american countries using structural equation modeling.

PubMed

Gili, Juan Antonio; Poletta, Fernando Adrián; Campaña, Hebe; Comas, Belén; Pawluk, Mariela; Rittler, Monica; López-Camelo, Jorge Santiago

2013-09-01

Background : There is disagreement about the association between cleft lip with or without cleft palate and multigravidity, which could be explained by differences of adjusting for maternal age, Amerindian ancestry, and socioeconomic status. Objective : The aim was to evaluate gravidity 4+ (four or more gestations) as a risk factor for cleft lip with or without cleft palate in South America. Design : We used a matched (1:1) case-control study with structural equation modeling for related causes. Data were obtained from 1,371,575 consecutive newborn infants weighing ≥500 g who were born in the hospitals of the Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC) network between 1982 and 1999. There were a total of 1,271 cases with cleft lip with or without cleft palate (excluding midline and atypical cleft lip with or without cleft palate). A total of 1,227 case-control pairs were obtained, matched by maternal age, newborn gender, and year and place of birth. Potential confounders and intermediary variables were analyzed with structural equation modeling. Results : The crude risk of gravidity 4+ was 1.41 and the 95% confidence interval was 1.14 to 1.61. When applying structural equation modeling, the effect of multigravidity on the risk of cleft lip with or without cleft palate was 1.22 and the 95% confidence interval was 0.91 to 1.39. Conclusions : Multigravid mothers (more than four gestations) showed no greater risk of bearing children who had cleft lip with or without cleft palate than mothers with two or three births. Therefore, the often observed and reported association between multigravidity and oral clefts likely reflects the effect of other risk factors related to low socioeconomic status in South American populations.

Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study.

PubMed

Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

2017-07-01

Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. We conducted a case control study at the Women's Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women's hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy.

Oral Clefting in China Over the Last Decade: 205,679 Patients

PubMed Central

Kling, Rochelle R.; Taub, Peter J.; Ye, Xiaoqian

2014-01-01

Background: China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. Methods: A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). Results: A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. Conclusions: This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing. PMID:25426353

Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

PubMed

Ma, Xiaoran; McPherson, Bradley; Ma, Lian

2016-03-01

Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an auditory diagnosis is made for this population.

Maternal caffeine intake during pregnancy and orofacial clefts.

PubMed

Collier, Sarah A; Browne, Marilyn L; Rasmussen, Sonja A; Honein, Margaret A

2009-10-01

Moderate caffeine intake during pregnancy is common, but little is known about its potential association with birth defects. The National Birth Defects Prevention Study is a population-based, case-control study of major birth defects, excluding infants with single-gene disorders and chromosomal abnormalities. This analysis includes infants with cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO), excluding infants whose cleft was secondary to holoprosencephaly or amniotic band sequence. Mothers reported dietary caffeine intake from coffee, tea, sodas, and chocolate in the year before pregnancy and reported intake of medications containing caffeine during pregnancy. We assessed the association between dietary caffeine intake, frequency of consuming each type of caffeinated beverage, medications containing caffeine, and CL/P or CPO among infants born from October 1997 through December 2004. This analysis included 1531 infants with CL/P, 813 infants with CPO, and 5711 infants with no major birth defects (controls). Examining dietary sources among control mothers, 11% reported consuming at least 300 mg of caffeine per day and 17% reported consuming less than 10 mg of caffeine per day; high consumption (>or=3 servings per day) was reported by 8% (coffee), 4% (tea), and 15% (sodas); medications containing at least 100 mg caffeine/dose were reported by less than 1%. Although some effect estimates were elevated for moderate caffeine intake from all beverages, estimates were closer to the null for high caffeine levels. Isolated CL/P was associated with use of medications containing at least 100 mg of caffeine per dose. Our data do not suggest an association between maternal dietary caffeine intake and orofacial clefts, but caffeine-containing medications merit further study.

Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study

PubMed Central

Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

2017-01-01

Introduction: Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. Materials and Methods: We conducted a case control study at the Women’s Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. Results: We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. Conclusions: The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women’s hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy. PMID:28819616

Cleft Lip and Palate: An Experience of a Developing Center in Egypt.

PubMed

Abulezz, Tarek A

2017-11-01

Cleft lip and palate is the most common congenital anomaly in the head and neck region. These clefts are not just a distortion of the normal appearance, but they may impose a major influence on the whole patient's life, both functionally and psychologically. Clefts affect feeding, teething, hearing, speech, and social communication. The incidence of cleft lip and palate is variable in different countries and different communities. The surgical correction of cleft lip and palate went through many evolutions, but still there is no single universal protocol of repair; however, many European countries have adopted national protocols and have established cleft centers for the management and follow up of affected population. In this study, the problem of cleft lip and palate in the area of upper Egypt was presented through the records of patients admitted to the Department of Plastic Surgery at the Sohag University Hospital in a 15-year period (2001-2015). A total number of 1318 patients, who were admitted and had been operated upon in our department, were included in this study. The majority of patients presented to the department with a primary disease, yet 14.7% (194 patients) of them were first presented for a secondary interference after being operated upon elsewhere. A total number of 1923 surgical procedures were performed.

PVRL1 Variants Contribute to Non-Syndromic Cleft Lip and Palate in Multiple Populations

PubMed Central

Avila, Joseph R.; Jezewski, Peter A.; Vieira, Alexandre R.; Orioli, Iêda M.; Castilla, Eduardo E.; Christensen, Kaare; Daack-Hirsch, Sandra; Romitti, Paul A.; Murray, Jeffrey C.

2007-01-01

Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). In addition, a common non-sense mutation in PVRL1 was discovered more often among non-syndromic sporadic clefting cases in Northern Venezuela in a previous case-control study. The present work sought to ascertain the role of PVRL1 in the sporadic forms of orofacial clefting in multiple populations. Multiple rare and common variants from all three splice isoforms were initially ascertained by sequencing 92 Iowan and 86 Filipino cases and CEPH controls. Using a family-based analysis to examine these variants, the common glycine allele of the G361V coding variant was significantly overtransmitted among all orofacial clefting phenotypes (P = 0.005). This represented G361V genotyping from over 800 Iowan, Danish, and Filipino families. Among four rare amino acid changes found within the V1 and C1 domains, S112T and T131A were found adjacent to critical amino acid positions within the V1 variable domain, regions previously shown to mediate cell-to-cell and cell-to-virus adhesion. The T131A variant was not found in over 1,300 non-affected control samples although the alanine is found in other species. The serine of the S112T variant position is conserved across all known PVRL1 sequences. Together these data suggest that both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face. PMID:17089422

Selection bias in genetic-epidemiological studies of cleft lip and palate

DOE Office of Scientific and Technical Information (OSTI.GOV)

Christensen, K.; Holm, N.V.; Kock, K.

1992-09-01

The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biasedmore » ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.« less

IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.

PubMed

Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V K S

2017-06-26

Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Calvarial periosteal graft for second-stage cleft palate surgery: a preliminary report.

PubMed

Neiva, Cecilia; Dakpe, Stephanie; Gbaguidi, Cica; Testelin, Sylvie; Devauchelle, Bernard

2014-07-01

The objectives of cleft palate surgery are to achieve optimal outcomes regarding speech development, hearing, maxillary arch development and facial skull growth. Early two-stage cleft palate repair has been the most recent protocol of choice to achieve good maxillary arch growth without compromising speech development. Hard palate closure occurs within one year of soft palate surgery. However, in some cases the residual hard palate cleft width is larger than 15 mm at the age of two. As previously reported, integrated speech development starts around that age and it is a challenge since we know that early mobilization of the mucoperiosteum interferes with normal facial growth on the long-term. In children with large residual hard palate clefts at the age 2, we report the use of calvarial periosteal grafts to close the cleft. With a retrospective 6-year study (2006-2012) we first analyzed the outcomes regarding impermeability of hard palate closure on 45 patients who at the age of two presented a residual cleft of the hard palate larger than 15 mm and benefited from a periosteal graft. We then studied the maxillary growth in these children. In order to compare long-term results, we included 14 patients (age range: 8-20) treated between 1994 & 2006. Two analyses were conducted, the first one on dental casts from birth to the age of 6 and the other one based on lateral cephalograms following Delaire's principles and TRIDIM software. After the systematic cephalometric analysis of 14 patients, we found no evidence of retrognathia or Class 3 dental malocclusion. In the population of 45 children who benefited from calvarial periosteal grafts the rate of palate fistula was 17% vs. 10% in the overall series. Despite major advances in understanding cleft defects, the issues of timing and choice of the surgical procedure remain widely debated. In second-stage surgery for hard palate closure, using a calvarial periosteal graft could be the solution for large residual clefts without compromising adequate speech development by encouraging proper maxillary arch growth. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Cleft palate with/without cleft lip in French children: radiographic evaluation of prevalence, location and coexistence of dental anomalies inside and outside cleft region.

PubMed

Mangione, Francesca; Nguyen, Laure; Foumou, Nathalie; Bocquet, Emmanuelle; Dursun, Elisabeth

2018-03-01

Prevalence of dental anomalies in cleft patients is higher than that in general population. The objectives of this study were to assess the prevalence of dental anomalies and their coexistence in French children with cleft and, then, to investigate the relation between the dental anomalies and the cleft type. Seventy-four non-syndromic cleft patients (6-16 years old) from Lille Regional University and Mondor-Chenevier Hospitals (France) were included. Clefts were classified as right/left unilateral cleft lip and palate (UCLP), bilateral cleft lip and palate (BCLP) and cleft palate (CP). Dental anomalies were investigated on panoramic radiographs and categorized as agenesis, supernumerary teeth, incisor rotations, impacted canines and shape anomalies. Prevalence and gender distribution of dental anomalies, mean number of affected teeth per patient, agenesis occurrence and location, and coexistence of dental anomalies were analysed by cleft type. 96.0% of patients presented at least one dental anomaly (agenesis 83.8%, incisor rotations 25.7%, shape anomalies 21.6%, impacted canines 18.9%, supernumerary teeth 8.1%). BCLP patients had a higher number of affected teeth, and left UCLP patients had a higher one compared to right UCLP patients. Distribution of inside (45.3%) and outside (54.7%) cleft region agenesis was similar. Adjacent (31.8%) and not adjacent (33.3%) combined dental anomalies were often encountered. Dental anomalies were localized inside as well as outside cleft region and were often associated with each other. BCLP patients were more affected. Early radiographic evaluation allows a comprehensive diagnosis of inside and outside cleft region anomalies, required for the multidisciplinary dental treatment.

Multidisciplinary Cleft Palate Program at BC Children's Hospital: Are We Meeting the Standards of Care?

PubMed

Dahiya, Anita; Courtemanche, Rebecca; Courtemanche, Douglas J

2018-05-01

To characterize current Cleft Palate Program (CPP) practices and evaluate the timeliness of appointments with respect to patient age and diagnosis based on American Cleft Palate-Craniofacial Association (ACPA) population guidelines and CPP patient-specific recommendations. A retrospective review of CPP patient appointments from November 6, 2012, to March 31, 2015, was done. Data were analyzed using descriptive and inferential statistics. The study was conducted using data from the CPP at BC Children's Hospital. A total of 1214 appointments were considered in the analysis, including syndromic and nonsyndromic patients of 0 to 27 years of age. Percentage of patients meeting follow-up targets by ACPA standards and CPP team recommendations. Our results showed patients 5 years and younger or nonsyndromic were more likely to be seen on time ( P < .001). No relationship between the timeliness of an appointment and specific patient diagnoses or distance to clinic was found. With the exception of nursing (97% of appointments were on time), all disciplines had less than 45% of appointments on time with 51% of appointments meeting ACPA guidelines for timeliness and 32% of all appointments meeting CPP recommendations. Timely care for the cleft/craniofacial patient populations represents a challenge for the CPP. Although half of patients may meet the general ACPA guidelines, only 32% of patients are meeting the CPP patient-specific recommendations. To provide better patient care, future adjustments are needed, which may include improved resource allotment and program support.

Normative Velopharyngeal Data in Infants: Implications for Treatment of Cleft Palate.

PubMed

Schenck, Graham C; Perry, Jamie L; Fang, Xiangming

2016-09-01

Identifying normative data related to velopharyngeal muscles and structures may have clinical significance for infants born with cleft palate, especially as they relate to selection of surgical intervention and postsurgical outcomes. Previous studies suggest that patients whose anatomy postsurgically is dissimilar to that of their normative counterparts are at risk for hypernasal speech. However, studies have not documented what constitutes "normal" anatomy for the clinically relevant population-that is, the infant population. The purpose of this study is to examine a magnetic resonance imaging database (n = 29) related to normative velopharyngeal structures and provide a preliminary comparison to 2 selected patients with repaired cleft palate. Twenty-nine healthy infants between 9 and 23 months of age (mean = 15.2 months) with normal craniofacial and velopharyngeal anatomy were recruited to participate in this study. Normative data were compared to 2 infants with repaired cleft palate between 13 and 15 months of age (mean = 14 months). Quantitative craniometric and velopharyngeal measures from the sagittal and oblique coronal image planes were collected. Variables of interest included: levator muscle, velar, and craniometric measures. Females demonstrated significantly larger intravelar segments compared with males. White infants demonstrated significantly larger levator muscles compared to non-white infants. Infants with repaired cleft palate demonstrated increased overall levator muscle length and levator extravelar length compared with infants with normal velopharyngeal anatomy.Data from the present study provide a normative database for future investigators to utilize as a comparative tool when evaluating infants with normal and abnormal velopharyngeal anatomy.

Postnatal craniofacial skeleton development following a pushback operation of patients with cleft palate.

PubMed

Viteporn, S; Enemark, H; Melsen, B

1991-10-01

A longitudinal growth study of the craniofacial skeleton in 52 (19 males, 33 females) Danish individuals with cleft palates was performed. Thirty (13 males, 17 females) had clefts of the soft palate only or clefts extending into the posterior third of the hard palate. Twenty-two (6 males, 16 females) had more extensive clefts including up to two-thirds of the hard palate. The cleft was closed with a pushback operation at 22 months of age. Orthodontic treatment was included in the early mixed dentition. Lateral cephalometries were obtained at 5, 8, 12, 16, and 21 years of age. Twenty-four variables were digitized and analyzed. The results indicated that patients with more extensive clefts demonstrated significantly smaller anterior cranial base length (N-S), total cranial base length (N-Ba), maxillary dentoalveolar base length (A-PMP), mandibular length (Cd-Pgn), upper anterior and posterior facial heights (N-ANS and P-PMP), and total facial height (N-Gn). Patients with the more extensive clefts reached maximum growth spurt later than patients with less extensive clefts in all dimensions except the A-PMP and the lower and total facial heights.

A quantitative method for defining high-arched palate using the Tcof1(+/-) mutant mouse as a model.

PubMed

Conley, Zachary R; Hague, Molly; Kurosaka, Hiroshi; Dixon, Jill; Dixon, Michael J; Trainor, Paul A

2016-07-15

The palate functions as the roof of the mouth in mammals, separating the oral and nasal cavities. Its complex embryonic development and assembly poses unique susceptibilities to intrinsic and extrinsic disruptions. Such disruptions may cause failure of the developing palatal shelves to fuse along the midline resulting in a cleft. In other cases the palate may fuse at an arch, resulting in a vaulted oral cavity, termed high-arched palate. There are many models available for studying the pathogenesis of cleft palate but a relative paucity for high-arched palate. One condition exhibiting either cleft palate or high-arched palate is Treacher Collins syndrome, a congenital disorder characterized by numerous craniofacial anomalies. We quantitatively analyzed palatal perturbations in the Tcof1(+/-) mouse model of Treacher Collins syndrome, which phenocopies the condition in humans. We discovered that 46% of Tcof1(+/-) mutant embryos and new born pups exhibit either soft clefts or full clefts. In addition, 17% of Tcof1(+/-) mutants were found to exhibit high-arched palate, defined as two sigma above the corresponding wild-type population mean for height and angular based arch measurements. Furthermore, palatal shelf length and shelf width were decreased in all Tcof1(+/-) mutant embryos and pups compared to controls. Interestingly, these phenotypes were subsequently ameliorated through genetic inhibition of p53. The results of our study therefore provide a simple, reproducible and quantitative method for investigating models of high-arched palate. Copyright © 2015 Elsevier Inc. All rights reserved.

A quantitative method for defining high-arched palate using the Tcof1+/− mutant mouse as a model

PubMed Central

Conley, Zachary R.; Hague, Molly; Kurosaka, Hiroshi; Dixon, Jill; Dixon, Michael J.; Trainor, Paul A.

2016-01-01

The palate functions as the roof of the mouth in mammals, separating the oral and nasal cavities. Its complex embryonic development and assembly poses unique susceptibilities to intrinsic and extrinsic disruptions. Such disruptions may cause failure of the developing palatal shelves to fuse along the midline resulting in a cleft. In other cases the palate may fuse at an arch, resulting in a vaulted oral cavity, termed high-arched palate. There are many models available for studying the pathogenesis of cleft palate but a relative paucity for high-arched palate. One condition exhibiting either cleft palate or high-arched palate is Treacher Collins syndrome, a congenital disorder characterized by numerous craniofacial anomalies. We quantitatively analyzed palatal perturbations in the Tcof1+/− mouse model of Treacher Collins syndrome, which phenocopies the condition in humans. We discovered that 46% of Tcof1+/− mutant embryos and new born pups exhibit either soft clefts or full clefts. In addition, 17% of Tcof1+/− mutants were found to exhibit high-arched palate, defined as two sigma above the corresponding wild-type population mean for height and angular based arch measurements. Furthermore, palatal shelf length and shelf width were decreased in all Tcof1+/− mutant embryos and pups compared to controls. Interestingly, these phenotypes were subsequently ameliorated through genetic inhibition of p53. The results of our study therefore provide a simple, reproducible and quantitative method for investigating models of high-arched palate. PMID:26772999

A cone beam computed tomographic evaluation of the size of the sella turcica in patients with cleft lip and palate.

PubMed

Paknahad, Maryam; Shahidi, Shoaleh; Khaleghi, Iman

2017-09-01

Changes in the size of the sella turcica are frequently related to pathologies and syndromes. The aim of this was to compare the sella turcica dimensions in patients with unilateral and bilateral cleft lip and palate and non-cleft subjects. Cone beam computed tomography (CBCT) images of three groups consisted of 20 patients with unilateral cleft lip and palate; 20 patients with bilateral cleft lip and palate and a control group consisting of 20 non-cleft subjects were the research population in this pilot study. The sella turcica linear dimensions in terms of length, depth and diameter were measured for all subjects. One-way ANOVA test was used to determine any significant differences among the three groups for the measured parameters. The length, depth and diameter of sella turcica were found to be significantly smaller in the unilateral and bilateral groups compared with the normal age and gender matched group. No significant differences were found in the measured variables between the unilateral and bilateral cleft patients. CBCT images showed a greater likelihood of abnormal sella turcica dimensions in patients with unilateral and bilateral cleft lip and palate. Therefore, the sella turcica dimensions may have an intrinsic relationship to the cleft condition.

Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies.

PubMed

Brito, Luciano A; Cruz, Lucas A; Rocha, Kátia M; Barbara, Ligia K; Silva, Camila B F; Bueno, Daniela F; Aguena, Meire; Bertola, Débora R; Franco, Diogo; Costa, André M; Alonso, Nivaldo; Otto, Paulo A; Passos-Bueno, Maria Rita

2011-07-01

Non-syndromic cleft lip with or without cleft palate (NS CL/P) is a complex disease in which heritability estimates vary widely depending on the population studied. To evaluate the importance of genetic contribution to NS CL/P in the Brazilian population, we conducted a study with 1,042 families from five different locations (Santarém, Fortaleza, Barbalha, Maceió, and Rio de Janeiro). We also evaluated the role of consanguinity and ethnic background. The proportion of familial cases varied significantly across locations, with the highest values found in Santarém (44%) and the lowest in Maceió (23%). Heritability estimates showed a higher genetic contribution to NS CL/P in Barbalha (85%), followed by Santarém (71%), Rio de Janeiro (70%), Fortaleza (64%), and Maceió (45%). Ancestry was not correlated with the occurrence of NS CL/P or with the variability in heritability. Only in Rio de Janeiro was the coefficient of inbreeding significantly larger in NS CL/P families than in the local population. Recurrence risk for the total sample was approximately 1.5-1.6%, varying according to the location studied (0.6-0.7% in Maceió to 2.2-2.8% in Barbalha). Our findings show that the degree of genetic contribution to NS CL/P varies according to the geographic region studied, and this difference cannot be attributed to consanguinity or ancestry. These findings suggest that Barbalha is a promising region for genetic studies. The data presented here will be useful in interpreting results from molecular analyses and show that care must be taken when pooling samples from different populations for association studies. Copyright © 2011 Wiley-Liss, Inc.

Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hecht, J.T.; Yaping Wang; Connor, B.

1993-06-01

Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less formore » exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.« less

Prevalence of dental anomalies in patients with cleft lip and palate.

PubMed

Eslami, Neda; Majidi, Mohammad Reza; Aliakbarian, Majid; Hasanzadeh, Nadia

2013-09-01

The aim of the present study was to investigate the prevalence of dental anomalies in a group of patients with cleft lip and palate (CL/P) in the northeast of Iran. Ninety-one patients referring to the Cleft Lip and Palate Clinic of Mashhad Dental School were enrolled and classified into right CL/P, left CL/P, and bilateral CL/P groups. Photographs, dental casts, and panoramic and periapical radiographs were retrieved, and dental anomalies were recorded. χ test was used to analyze the frequency of dental anomalies according to type of cleft and sex. Missing maxillary lateral incisors was the most frequent dental anomaly, which was slightly higher in the bilateral group (61.1%). There were significantly more cases of missing lateral incisors outside the cleft area in right CL/P (P = 0.015). Peg lateral incisors were observed in 33.3% of bilateral CL/P compared with 28% of right and 23.3% of left unilateral cases. The sample presented rotations of central incisors in the cleft area in 33.3% of bilateral clefts. In unilateral clefts, it occurred more frequently in the right side (48%). Sexual dimorphism appeared only for maxillary central incisor rotation in the cleft area, which showed significantly greater frequency in females (P = 0.025). Transposition of maxillary canine and first premolars was found in 5.5% of bilateral, 8% of right, and 3.3% of left unilateral clefts. The prevalence of dental anomalies in the studied sample seems to be higher than that reported in the normal population. More anomalies were observed at the cleft side. The frequency of most anomalies was not significantly different between the 2 sexes.

Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis

PubMed Central

Gfrerer, Lisa; Shubinets, Valeriy; Hoyos, Tatiana; Kong, Yawei; Nguyen, Christina; Pietschmann, Peter; Morton, Cynthia C.; Maas, Richard L.; Liao, Eric C.

2015-01-01

Background Oblique facial clefts, also known as Tessier clefts, are severe orofacial clefts, the genetic basis of which is poorly understood. Human genetics studies revealed that disruption in SPECC1L resulted in oblique facial clefts, demonstrating that oblique facial cleft malformation has a genetic basis. An important step toward innovation in treatment of oblique facial clefts would be improved understanding of its genetic pathogenesis. The authors exploit the zebrafish model to elucidate the function of SPECC1L by studying its homolog, specc1lb. Methods Gene and protein expression analysis was carried out by reverse-transcriptase polymerase chain reaction and immunohistochemistry staining. Morpholino knockdown, mRNA rescue, lineage tracing and terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling assays were performed for functional analysis. Results Expression of specc1lb was detected in epithelia juxtaposed to chondrocytes. Knockdown of specc1lb resulted in bilateral clefts between median and lateral elements of the ethmoid plate, structures analogous to the frontonasal process and the paired maxillary processes. Lineage tracing analysis revealed that cranial neural crest cells contributing to the frontonasal prominence failed to integrate with the maxillary prominence populations. Cells contributing to lower jaw structures were able to migrate to their destined pharyngeal segment but failed to converge to form mandibular elements. Conclusions These results demonstrate that specc1lb is required for integration of frontonasal and maxillary elements and convergence of mandibular prominences. The authors confirm the role of SPECC1L in orofacial cleft pathogenesis in the first animal model of Tessier cleft, providing morphogenetic insight into the mechanisms of normal craniofacial development and oblique facial cleft pathogenesis. PMID:25357034

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

PubMed

do Rego Borges, Andrea; Sá, Jamile; Hoshi, Ryuichi; Viena, Camila Sane; Mariano, Lorena C; de Castro Veiga, Patricia; Medrado, Alena Peixoto; Machado, Renato Assis; de Aquino, Sibele Nascimento; Messetti, Ana Camila; Spritz, Richard A; Coletta, Ricardo D; Reis, Silvia R A

2015-10-01

Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry. © 2015 Wiley Periodicals, Inc.

Association of common variants in PAH and LAT1 with non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Polish population.

PubMed

Hozyasz, Kamil K; Mostowska, Adrianna; Wójcicki, Piotr; Lasota, Agnieszka; Wołkowicz, Anna; Dunin-Wilczyńska, Izabella; Jagodziński, Paweł P

2014-04-01

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. Associations of abnormalities in phenylalanine metabolism and orofacial clefts have been suggested. Eight single nucleotide polymorphisms (SNPs) of genes encoding phenylalanine hydroxylase (PAH) and large neutral l-amino acid transporter type 1 (LAT1), as well as the PAH mutation that is most common in the Polish population (rs5030858; R408W), were investigated in 263 patients with NSCL/P and 270 matched controls using high resolution melting curve analysis (HRM). We found that two polymorphic variants of PAH appear to be risk factors for NSCL/P. The odds ratio (OR) for individuals with the rs7485331 A allele (AC or AA) compared to CC homozygotes was 0.616 (95% confidence interval [CI]=0.437-0.868; p=0.005) and this association remains statistically significant after multiple testing correction. The PAH rs12425434, previously associated with schizophrenia, was borderline associated with orofacial clefts. Moreover, haplotype analysis of polymorphisms in the PAH gene revealed a 4-marker combination that was significantly associated with NSCL/P. The global p-value for a haplotype comprised of SNPs rs74385331, rs12425434, rs1722392, and the mutation rs5030858 was 0.032, but this association did not survive multiple testing correction. This study suggests the involvement of the PAH gene in the aetiology of NSCL/P in the tested population. Further replication will be required in separate cohorts to confirm the consistency of the observed association. Copyright © 2014 Elsevier Ltd. All rights reserved.

Demographics of cleft care providers in Africa and reported experience in training and practice: direct analysis of continent-based practitioners.

PubMed

Adetayo, Oluwaseun A; Martin, Mark C

2012-05-01

To elucidate the impact of several geographic, cultural, and socioeconomic variables on cleft care delivery in Africa, and to investigate the current status of cleft care delivery in Africa. Survey of practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP). The annual PACCLIP conference in Ibadan, Nigeria, West Africa, February 2007. To provide an analysis of the demographics and training experience of cleft care providers in Africa by collating information directly from the continent-based practitioners. Plastic surgeons and oral and maxillofacial surgeons provide the majority of cleft care. Most of the participants reported availability of formal training programs in their respective countries. The predominant practice settings were university and government-based. During training, half of the providers had encountered up to 30 cleft cases, and a quarter had managed more than 100 cases. Representation of visiting surgeons were equally distributed between African and non-African countries. This study provides initial and detailed analysis crucial to understanding the underlying framework of cleft care composition teams, demographics of providers, and training and practice experience. This awareness will further enable North American and other non-African plastic surgeons to effectively partner with African cleft care providers to have a further reaching impact in the region.

The prevalence of specific dental anomalies in a group of Saudi cleft lip and palate patients.

PubMed

Al-Kharboush, Ghada H; Al-Balkhi, Khalid M; Al-Moammar, Khalid

2015-04-01

The aims of this study were to investigate the prevalence and distribution of dental anomalies in a group of Saudi subjects with cleft lip and palate (CLP), to examine potential sex-based associations of these anomalies, and to compare dental anomalies in Saudi subjects with CLP with published data from other population groups. This retrospective study involved the examination of pre-treatment records obtained from three CLP centers in Riyadh, Saudi Arabia, in February and March 2010. The pre-treatment records of 184 subjects with cleft lip and palate were identified and included in this study. Pre-treatment maxillary occlusal radiographs of the cleft region, panoramic radiographs, and orthodontic study models of subjects with CLP were analyzed for dental anomalies. Orthopantomographs and occlusal radiographs may not be reliable for the accurate evaluation of root malformation anomalies. A total of 265 dental anomalies were observed in the 184 study subjects. Hypodontia was observed most commonly (66.8%), followed by microdontia (45.6%), intra-oral ectopic eruption (12.5%), supernumerary teeth (12.5%), intra-nasal ectopic eruption (3.2), and macrodontia (3.2%). No gender difference in the prevalence of these anomalies was observed. Dental anomalies were common in Saudi subjects with CLP type. This will complicate the health care required for the CL/P subjects. This study was conducted to epidemiologically explore the prevalence of dental anomalies among Saudi Arabian subjects with CLP.

Body Esteem in a Western Australian Cleft Lip and/or Palate Cohort Across 3 Age Groups.

PubMed

Nicholls, Wendy; Harper, Craig; Selvey, Linda A; Robinson, Suzanne; Hartig, Gerald; Persson, Martin

2018-04-01

To determine if patients with cleft lip and/or palate (CL/P) from a Western Australian (WA) cohort were more dissatisfied with their body esteem than a normative non-cleft cohort, and identify demographic variables that may have significant associations with body esteem. Questionnaire study using the Body-Esteem Scale (BES) and Cleft Research Questionnaire (CRQ). Self-selected participants from a Western Australian CL/P population across 3 age groups (n=359). The BES is comprised of 3 factors: BE-Appearance, BE-Weight and BE-Attribution. Study mean BES factor scores were compared to normative non-cleft scores. Regression analysis was used to determine significant associations within each age group between BES factor scores and CRQ variables of: gender, self-reported body weight category, cleft type and importance of facial appearance rating. Study mean BE-Attribution scores were significantly lower than the normative scores and significantly lower than the mean BE-Appearance and BE-Weight factor scores within the same age groups of this study. Having a cleft type of lip and palate, being overweight, and placing a high importance on facial appearance had significant negative associations with BES scores. Maintaining a normal body weight and placing a lower level of importance on facial appearance had significant positive associations. Gender had no significant associations. In this study, the attribution aspect of body esteem had a greater negative impact on patients than their appearance and body weight. This has important implications for clinical treatment and support of patients.

Maternal occupational cadmium exposure and nonsyndromic orofacial clefts.

PubMed

Suhl, Jonathan; Romitti, Paul A; Cao, Yanyan; Rocheleau, Carissa M; Burns, Trudy L; Conway, Kristin; Rajaraman, Preetha; Agopian, A J; Stewart, Patricia

2018-04-17

Cigarette smoking is a well-studied risk factor for orofacial clefts (OFCs). Little is known about which constituents in cigarette smoke contribute to this teratogenicity in humans. One constituent, cadmium, has been associated with OFCs in animal studies; in humans, the role of maternal cadmium exposure on OFCs, independent of cigarette smoke, is unclear. In particular, the relation between maternal occupational cadmium exposure and OFCs is largely unexplored. Using data from a large, population-based case-control study, we compared expert rater assessed maternal occupational cadmium exposure from self-reported occupational histories during the period 1 month before through 3 months after conception between OFC cases (n = 1,185) and unaffected controls (n = 2,832). Multivariable logistic regression analyses were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals for any (yes/no) and cumulative (no, low, high exposure) occupational cadmium exposures and all OFCs, cleft lip ± cleft palate (CL/P) and cleft palate (CP). Overall, 45 mothers (cases = 13, controls = 32) were rated as having occupational cadmium exposure. Comparing all OFCs to controls, we observed inverse, nonsignificant aORs for any or low exposure, and positive, nonsignificant aORs for high exposure. Where data were available, aORs for CL/P and CP tended to parallel those for all OFCs. To our knowledge, this is the first study to specifically examine maternal occupational cadmium exposure and OFCs, using expert rater exposure assessment. The small numbers of exposed mothers observed, however, led to imprecise estimates. Continued research using more detailed occupational exposure assessment and increased sample sizes is recommended. © 2018 Wiley Periodicals, Inc.

Radiographic Study of the Prevalence and Distribution of Hypodontia Associated with Unilateral and Bilateral Clef Lip and Palate in a Hungarian Population

PubMed Central

Berniczei-Roykó, Ádám; Tappe, Jan-Hendrik; Krinner, Axel; Gredes, Tomasz; Végh, András; Gábor, Katona; Linkowska-Świdzińska, Kamila; Botzenhart, Ute Ulrike

2016-01-01

Background Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. Material/Methods This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children’s Hospital, Budapest. There were 150 patients (84 males, 66 females) with non-syndromic unilateral (UCLP; n=120 patients) or bilateral (BCLP; n=30 patients) cleft formation (lip, alveolus and palate) who met the inclusion criteria. Statistical analysis was performed using the chi-square test and Fisher’s exact test (significance level p<0.05). Results Hypodontia was significantly more frequent in patients with cleft-sided lateral incisor (104 patients, 69%), with a total of 235 missing teeth, followed by the second premolars of the upper and lower jaw. A significant correlation of congenital missing teeth was observed in left-sided clefts between the upper and lower second premolar in the cleft area. Conclusions Hypodontia inside and outside the cleft area was frequently observed. This should affect the therapy plans, especially if the cleft-sided premolar is also absent. Further comprehensive research including numerous random samples is necessary for better estimating other possible associations. PMID:27767023

Smile Train: The ascendancy of cleft care in India

PubMed Central

Singh, Subodh Kumar

2009-01-01

Though India has an estimated population of one million untreated cleft patients, facilities for its treatment have been limited and are not evenly distributed across the country. Furthermore, a paucity of committed cleft surgeons in fewer hospitals to provide quality surgical treatment to these patients, poverty, illiteracy, superstitions and poor connectivity in some remote regions severely limit the chances of an average cleft lip patient born in India from receiving rational and effective comprehensive treatment for his/her malady. The Smile Train Project with its singular focus on cleft patients started its philanthropic activities in India in the year 2000. It made hospitals and included clefts surgeon equal partners in this programme and helped them treat as many cleft patients as they possibly could. The Project encouraged improvement of the training and infrastructure in various centres across the length and breadth of the region. The Project received an unprecedented success in terms of growth of number of centres, cleft surgeons and quantum of cleft patients reporting for treatment. The G S Memorial Hospital is one such partner hospital. It started innovative outreach programmes and took a holistic view of the needs of these patients and their families. With the support of the Smile Train, it has not only succeeded in providing treatment to more than 14,500 patients in 5 years, but has also devised innovative outreach programmes and seamlessly incorporated salient changes in the hospital system to suit the needs of the target population. PMID:19884676

Characterization of subtle brain abnormalities in a mouse model of Hedgehog pathway antagonist-induced cleft lip and palate.

PubMed

Lipinski, Robert J; Holloway, Hunter T; O'Leary-Moore, Shonagh K; Ament, Jacob J; Pecevich, Stephen J; Cofer, Gary P; Budin, Francois; Everson, Joshua L; Johnson, G Allan; Sulik, Kathleen K

2014-01-01

Subtle behavioral and cognitive deficits have been documented in patient cohorts with orofacial clefts (OFCs). Recent neuroimaging studies argue that these traits are associated with structural brain abnormalities but have been limited to adolescent and adult populations where brain plasticity during infancy and childhood may be a confounding factor. Here, we employed high resolution magnetic resonance microscopy to examine primary brain morphology in a mouse model of OFCs. Transient in utero exposure to the Hedgehog (Hh) signaling pathway antagonist cyclopamine resulted in a spectrum of facial dysmorphology, including unilateral and bilateral cleft lip and palate, cleft of the secondary palate only, and a non-cleft phenotype marked by midfacial hypoplasia. Relative to controls, cyclopamine-exposed fetuses exhibited volumetric differences in several brain regions, including hypoplasia of the pituitary gland and olfactory bulbs, hyperplasia of the forebrain septal region, and expansion of the third ventricle. However, in affected fetuses the corpus callosum was intact and normal division of the forebrain was observed. This argues that temporally-specific Hh signaling perturbation can result in typical appearing OFCs in the absence of holoprosencephaly--a condition classically associated with Hh pathway inhibition and frequently co-occurring with OFCs. Supporting the premise that some forms of OFCs co-occur with subtle brain malformations, these results provide a possible ontological basis for traits identified in clinical populations. They also argue in favor of future investigations into genetic and/or environmental modulation of the Hh pathway in the etiopathogenesis of orofacial clefting.

Improved Early Cleft Lip and Palate Complications at a Surgery Specialty Center in the Developing World.

PubMed

Park, Eugene; Deshpande, Gaurav; Schonmeyr, Bjorn; Restrepo, Carolina; Campbell, Alex

2018-01-01

To evaluate complication rates following cleft lip and cleft palate repairs during the transition from mission-based care to center-based care in a developing region. We performed a retrospective review of 3419 patients who underwent cleft lip repair and 1728 patients who underwent cleft palate repair in Guwahati, India between December 2010 and February 2014. Of those who underwent cleft lip repair, 654 were treated during a surgical mission and 2765 were treated at a permanent center. Of those who underwent cleft palate repair, 236 were treated during a surgical mission and 1491 were treated at a permanent center. Two large surgical missions to Guwahati, India, and the Guwahati Comprehensive Cleft Care Center (GCCCC) in Assam, India. Overall complication rates following cleft lip and cleft palate repair. Overall complication rates following cleft lip repair were 13.2% for the first mission, 6.7% for the second mission, and 4.0% at GCCCC. Overall complication rates following cleft palate repair were 28.0% for the first mission, 30.0% for the second mission, and 15.8% at GCCCC. Complication rates following cleft palate repair by the subset of surgeons permanently based at GCCCC (7.2%) were lower than visiting surgeons ( P < .05). Our findings support the notion that transitioning from a mission-based model to a permanent facility-based model of cleft care delivery in the developing world can lead to decreased complication rates.

Pattern of clefts and dental anomalies in six-year-old children: a retrospective observational study in western Norway.

PubMed

Sæle, Paul; Østhus, Eirik; Ådalen, Sondre; Nasir, Elwalid F; Mustafa, Manal

2017-03-01

Clefts of the lip and/or palate (CL/P) are the most common congenital disorders of the head and neck. In Norway, the incidence is 1.9/1000 live births. The aim of this study was to investigate the frequency and distribution of various types of clefts and dental anomalies in patients treated by the cleft lip and palate (CLP) team in Bergen, Norway. The material comprised the records of patients 6 years of age, examined by the CLP team in Bergen from spring 1993 to autumn 2012, incomplete records were excluded. The records of 989 patients were analysed, using frequencies and Chi-square test to compare differences in percentages between groups. The gender distribution was 58.8% male and 41.2% female. Isolated cleft palate (CP) was the most common condition (39.5%). Clefts of the lip, jaw and palate (CLP) constituted (30%) of cases and (30.5%) had isolated cleft lip (CL). The frequencies of agenesis, supernumerary and peg-shaped teeth were (36.5%), (17.8%) and (7.5%), respectively. Over 50% of the study population were diagnosed with one or more malocclusion. Of the CLP patients, 61.4% had Angle Class III occlusion. Statistical analysis disclosed a positive association of agenesis with Class III occlusion (OR =1.8, p≤ 0.001). The findings supported the hypothesis that the distribution of dental anomalies and occlusal disorders varied among patients with CL, CP and CLP. In patients with cleft, there is a twofold chance to get Class III malocclusion in the presence of agenesis.

Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population.

PubMed

Neiswanger, K; Cooper, M E; Weinberg, S M; Flodman, P; Keglovits, A Bundens; Liu, Y; Hu, D N; Melnick, M; Spence, M A; Marazita, M L

2002-08-01

To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Case-control study with two control groups (genetically related and unrelated). A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting.

Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

DOE Office of Scientific and Technical Information (OSTI.GOV)

Daack-Hirsch, S.; Basart, A.; Frischmeyer, P.

1994-09-01

Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP foundmore » in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.« less

Medical care for 4- to 5-year-olds with cleft lip/palate at the Tawanchai Center: geoinformatics study.

PubMed

Pattaranit, Rumpan; Songsung, Chainarong; Simmalee, Krisda; Pradubvong, Suteera; Thanapaisal, Chaiwit

2012-11-01

The incidence of cleft lip and cleft palate in Thailand is based on reports from three hospitals in Northeastern Thailand. There are 2.49 new babies born with cleft lip and cleft palate and craniofacial deformities for every 1,000 babies the highest incidence in the world. Area 7 Office of the National Health Security Office (NHSO) comprises Khon Kaen, Roi Et, Mahasarakam and Kalasin. The number of newborns with cleft lip and palate is an estimated 114 cases/year. A retrospective geoinformatics study was conducted using the medical records of 4- to 5-year-olds with cleft lip and cleft palate registered with the Tawanchai Center Srinagarind Hospital. To study the distribution of 4- to 5-year-olds with cleft lip and palate using geoinformatics. This retrospective study was conducted using data from the medical records, which contains the records of 4- to 5-year-olds with cleft lip and cleft palate admitted to Srinagarind Hospital. The 54-patient sample groups were registered at the Tawanchai Center Faculty of Medicine, Khon Kaen University, under the aegis of the NHSO (Area 7-Khon Kaen). The data were collected using self-administered questionnaires between May and June 2012 and geoinformatics, to study the distribution of patients' vis-a-vis the various parameters. Among the 27 male and 27femalepatients, 51.85% had cleft lip with cleft palate. Most of the cleft lip patients (7 cases; 41.18%) were in Khon Kaen, while 4 (44.44%) of the cleft palate patients were in Roi-Et and 11 (39.29%) of the cleft lip with palate patients were in Khon Kaen. Most cleft lip patients were in Roi-Et province: 1 case in each of four districts. Similarly, most cases of cleft palate were in Roi-Et province: 1 case in each of four districts. Finally, most cases (5; 50%) of cleft lip with cleft palate were found in Roi-Et province, mostly in the central (Muang) district. The use of Arc View software as an instrument for geoinformatics, spatial data collection helped to clarify the district level distribution of patients with CLP; this information is needed for policy planning and resource allocation.

Epidemiological Study of Orofacial Clefts among Population of Eastern Slovakia during the Period 1996-2013.

PubMed

Pacáková, Diana; Zábavníková, Marianna; Miklošová, Mária; Kúkeľová, Diana; Dankovčík, Róbert

2016-06-01

Over the past 18 years, according to data from the Clinic of Plastic and Reconstructive Surgery, L. Pasteur University Hospital, there have been 493 cases of orofacial clefts (OC) reported in the area of Eastern Slovakia. The aim of this study was to map the occurrence of orofacial clefts reported in the area of Eastern Slovakia during the years 1996-2013. Also, we compared the occurrence of different types of clefts between the groups in relation to gender and ethnicity. The statistical analysis shows relationship between variables of location and gender and gender differences in the occurrence of various types of clefts. Moreover, in comparison with another study which analyzed the years 1985-2000 (1.29/10(3) live births), there was an increase in the incidence (1.42/10(3) live births) of OC in Eastern Slovakia. Our findings seem contradictive to similar studies which discuss ethnic differences in relation to OC. We recognize the relatively high occurrence of OC in Eastern Slovakia, and we link this phenomenon to several extrinsic factors, in particular socioeconomic status and embryotoxic factors. Copyright© by the National Institute of Public Health, Prague 2015.

Three-dimensional morphology of first molars in relation to ethnicity and the occurrence of cleft lip and palate.

PubMed

Echtermeyer, Sandra; Metelmann, Philine H; Hemprich, Alexander; Dannhauer, Karl-Heinz; Krey, Karl-Friedrich

2017-01-01

This study aims to describe morphological peculiarities of maxillary and mandibular first molars in Europeans, Asians and Europeans with cleft lip and palate. Reflex microscopy was used to obtain three-dimensional morphometric landmarks from 40 models (11 Europeans and 13 Asians without cleft lip and palate, 16 Europeans with unilateral cleft lip and palate). The cases were examined using traditional morphometry and geometric morphometry, and visualized using thin-plate splines. Classic morphometry showed no right/left differences in the study groups and no significant differences with regard to the cleft side in patients with cleft lip and palate. In Asians, a significantly greater mesiodistal width was found. Geometric morphometry showed an enlarged centroid size in Asians (maxilla and mandible). In cleft patients, the cleft site did not appear to impact the morphology of first molars. Unilateral clefting did not affect the size and shape of molars; however, characteristic ethnicity-based differences were in fact identified. The results are relevant for orthodontic treatment with preadjusted appliances, and prosthetic CAD/CAM restorations.

BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.

PubMed

Rodriguez, Nicholas; Maili, Lorena; Chiquet, Brett T; Blanton, Susan H; Hecht, Jacqueline T; Letra, Ariadne

2018-06-19

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of BRCA1 and BRCA2 genes with NSCL/P. Twelve polymorphisms in/nearby BRCA1 and BRCA2 were genotyped using Taqman chemistry. Our data set consisted of 3,473 individuals including 2,191 nonHispanic white (NHW) individuals (from 151 multiplex and 348 simplex families) and 1,282 Hispanic individuals (from 92 multiplex and 216 simplex families). Data analysis was performed using Family-Based Association Test (FBAT), stratified by ethnicity and family history of NSCL/P. Nominal associations were found between NSCL/P and BRCA1 in Hispanics and BRCA2 in NHW and Hispanics (p < .05). Significant haplotype associations were found between NSCL/P and both BRCA1 and BRCA2 (p ≤ .004). Our results suggest a modest association between BRCA1 and BRCA2 and NSCL/P. Further studies in additional populations and functional studies are needed to elucidate the role of these genes in developmental processes and signaling pathways contributing to NSCL/P. © 2018 Wiley Periodicals, Inc.

Evidence-Based Medicine: Cleft Palate.

PubMed

Woo, Albert S

2017-01-01

After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient. Orofacial clefts are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of cleft palate deformity. Cleft palate repair is generally performed in children between 6 and 12 months of age. The goals of palate repair are to minimize the occurrence of fistulas, establish a normal velopharyngeal mechanism, and optimize facial growth. This Maintenance of Certification review discusses the incidence and epidemiology associated with cleft palate deformity and specifics associated with patient care, including analgesia, surgical repair techniques, and complications associated with repair of the cleft palate.

Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients.

PubMed

Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

2017-09-01

Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have played a role in developmental dental defects.

School absence and its effect on school performance for children born with orofacial clefts.

PubMed

Bell, Jane; Raynes-Greenow, Camille; Turner, Robin; Bower, Carol; Dodson, Alan; Hancock, Kirsten; Nassar, Natasha

2017-07-17

School absence is associated with lower performance on standardized tests. Children born with orofacial clefts (OFC) are likely to have more absence than children without OFC; however, school absence for children with OFC has not been quantified. We aimed to describe school absence and its relationship with school performance for children with and without OFC. Population-based record-linked cohort study of children (402 with OFC, 1789 without OFC) enrolled in schools in Western Australia, 2008 to 2012. We compared median school absence rates using Wilcoxon rank tests, and investigated the impact of school absence on standardized scores from reading, numeracy, and writing tests, using multivariable models fitted by generalized estimating equations. In Semester 1, at each primary school year level, children without OFC and children with cleft lip only or cleft palate only had similar median absence rates (approximately 1 week). Children with cleft lip and palate had significantly higher absence rates in Years 4 to 6 (between 1 and 2 weeks). During secondary school, median absence rates were higher (2 weeks) for all children, but not statistically different between children with and without OFC. Higher absence was significantly associated with lower standardized reading, numeracy, and writing scores. However, having a cleft of any type had little influence on the association between absence and test scores. School absence affected school performance for all children. Absence did not differentially disadvantage children born with OFC, suggesting current practices to identify and support children with OFC are minimizing effects of their absence on school performance. Birth Defects Research 109:1048-1056, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Birth Prevalence of Neural Tube Defects and Orofacial Clefts in India: A Systematic Review and Meta-Analysis

PubMed Central

Allagh, Komal Preet; Shamanna, B. R.; Murthy, Gudlavalleti V. S.; Ness, Andy R.; Doyle, Pat; Neogi, Sutapa B.; Pant, Hira B.

2015-01-01

Background In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts. Methods A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India). Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement. Results The overall pooled birth prevalence (random effect) of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9). The overall pooled birth prevalence (random effect) of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5). Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn. Conclusion The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India. PMID:25768737

Haplotype-based gene-gene interaction of bone morphogenetic protein 4 and interferon regulatory factor 6 in the etiology of non-syndromic cleft lip with or without cleft palate in a Chilean population.

PubMed

Blanco, Rafael; Colombo, Alicia; Pardo, Rosa; Suazo, José

2017-04-01

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, the etiology of which can be dependent on the interactions of multiple genes. We previously reported haplotype associations for polymorphic variants of interferon regulatory factor 6 (IRF6), msh homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4), and transforming growth factor beta 3 (TGFB3) in Chile. Here, we analyzed the haplotype-based gene-gene interaction for markers of these genes and NSCL/P risk in the Chilean population. We genotyped 15 single nucleoptide polymorphisms (SNPs) in 152 Chilean patients and 164 controls. Linkage disequilibrium (LD) blocks were determined using the Haploview software, and phase reconstruction was performed by the Phase program. Haplotype-based interactions were evaluated using the multifactor dimensionality reduction (MDR) method. We detected two LD blocks composed of two SNPs from BMP4 (Block 1) and three SNPs from IRF6 (Block 2). Although MDR showed no statistical significance for the global interaction model involving these blocks, we found four combinations conferring a statistically significantly increased NSCL/P risk (Block 1-Block 2): T-T/T-G C-G-T/G-A-T; T-T/T-G C-G-C/C-G-C; T-T/T-G G-A-T/G-A-T; and T-T/C-G G-A-T/G-A-T. These findings may reflect the presence of a genomic region containing potential causal variants interacting in the etiology of NSCL/P and may contribute to disentangling the complex etiology of this birth defect. © 2017 Eur J Oral Sci.

[When a child is born with a cleft lip and palate].

PubMed

Chapados, C

1997-01-01

The child born with cleft lip and palate. Cleft lip, cleft palate and cleft lip and palate are among the most common facial abnormalities. The birth of a child with any of these and the prospect of a schedule of treatments that will continue into late adolescence puts enormous stress on the entire family. Between 1989 and 1994, 160 babies with such malformations were born in Quebec. In a study of eight families from this population, the author examines ways in which they communicate, share tasks, react to difficulties, show interest and solve problems. By means of interviews and three questionnaires, the author determined that the first three months following the birth are the most crucial. During this time, the nurse can help the family through a redefinition of roles brought on by the prospect of numerous medical and surgical procedures. The nurse can also provide the family with emotional and educational support; help them understand and come to terms with the child's malformation, so that the child is fed properly; and help lessen the family's feelings of helplessness. The nurse must ensure that these parents are adequately informed and provide them with additional information about cleft lip, cleft palate and cleft lip and palate. She must be aware of appropriate resources and, whenever possible, refer the families to an organization or a centre specializing in this type of malformation.

Toward an Orofacial Gene Regulatory Network

PubMed Central

Kousa, Youssef A.; Schutte, Brian C.

2015-01-01

Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in Interferon Regulatory Factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude Syndrome (1/35,000 live births) and Popliteal Pterygium Syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude Syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world’s population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (Branchio-oculo-facial Syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting. PMID:26332872

Value-based cleft lip-cleft palate care: a progress report.

PubMed

Abbott, Megan M; Meara, John G

2010-09-01

The health care debate in the United States centers on a concept that is fundamental to any service-based profession yet minimally integrated into the health care community: value creation. Value in health care has been defined as outcome achieved per dollar spent, and focuses on the patient. Many of the new strategies proposed to restructure health care delivery in the United States aim to study and improve both components of this equation. Indeed, it is a near guarantee that providers will soon be responsible for reporting their outcomes and resource use and will be benchmarked by these metrics. In addition, patients have a right to understand the value they receive from their care providers. In this report, the authors evaluate the current state of preparedness for the assessment of value in care delivery in the field of cleft lip-cleft palate based on literature review. There has been important progress in the definition and assessment of basic outcomes in cleft lip-cleft palate care, largely through formation of intercenter collaborations. However, many fundamental challenges face the cleft community, especially in North America. Standardization of data collection and outcomes measurement and reporting are particularly lacking. In addition, few data exist regarding the cost of cleft care. The weight of the evidence reveals that the cleft community is not prepared to assess, and thus improve, the value offered to patients. The authors address key challenges and outline future directions.

Single-Word Intelligibility in Speakers with Repaired Cleft Palate

ERIC Educational Resources Information Center

Whitehill, Tara; Chau, Cynthia

2004-01-01

Many speakers with repaired cleft palate have reduced intelligibility, but there are limitations with current procedures for assessing intelligibility. The aim of this study was to construct a single-word intelligibility test for speakers with cleft palate. The test used a multiple-choice identification format, and was based on phonetic contrasts…

Dealing with difficult deformations: construction of a knowledge-based deformation atlas

NASA Astrophysics Data System (ADS)

Thorup, S. S.; Darvann, T. A.; Hermann, N. V.; Larsen, P.; Ólafsdóttir, H.; Paulsen, R. R.; Kane, A. A.; Govier, D.; Lo, L.-J.; Kreiborg, S.; Larsen, R.

2010-03-01

Twenty-three Taiwanese infants with unilateral cleft lip and palate (UCLP) were CT-scanned before lip repair at the age of 3 months, and again after lip repair at the age of 12 months. In order to evaluate the surgical result, detailed point correspondence between pre- and post-surgical images was needed. We have previously demonstrated that non-rigid registration using B-splines is able to provide automated determination of point correspondences in populations of infants without cleft lip. However, this type of registration fails when applied to the task of determining the complex deformation from before to after lip closure in infants with UCLP. The purpose of the present work was to show that use of prior information about typical deformations due to lip closure, through the construction of a knowledge-based atlas of deformations, could overcome the problem. Initially, mean volumes (atlases) for the pre- and post-surgical populations, respectively, were automatically constructed by non-rigid registration. An expert placed corresponding landmarks in the cleft area in the two atlases; this provided prior information used to build a knowledge-based deformation atlas. We model the change from pre- to post-surgery using thin-plate spline warping. The registration results are convincing and represent a first move towards an automatic registration method for dealing with difficult deformations due to this type of surgery.

Multivariate analysis on unilateral cleft lip and palate treatment outcome by EUROCRAN index: A retrospective study.

PubMed

Yew, Ching Ching; Alam, Mohammad Khursheed; Rahman, Shaifulizan Abdul

2016-10-01

This study is to evaluate the dental arch relationship and palatal morphology of unilateral cleft lip and palate patients by using EUROCRAN index, and to assess the factors that affect them using multivariate statistical analysis. A total of one hundred and seven patients from age five to twelve years old with non-syndromic unilateral cleft lip and palate were included in the study. These patients have received cheiloplasty and one stage palatoplasty surgery but yet to receive alveolar bone grafting procedure. Five assessors trained in the use of the EUROCRAN index underwent calibration exercise and ranked the dental arch relationships and palatal morphology of the patients' study models. For intra-rater agreement, the examiners scored the models twice, with two weeks interval in between sessions. Variable factors of the patients were collected and they included gender, site, type and, family history of unilateral cleft lip and palate; absence of lateral incisor on cleft side, cheiloplasty and palatoplasty technique used. Associations between various factors and dental arch relationships were assessed using logistic regression analysis. Dental arch relationship among unilateral cleft lip and palate in local population had relatively worse scoring than other parts of the world. Crude logistics regression analysis did not demonstrate any significant associations among the various socio-demographic factors, cheiloplasty and palatoplasty techniques used with the dental arch relationship outcome. This study has limitations that might have affected the results, example: having multiple operators performing the surgeries and the inability to access the influence of underlying genetic predisposed cranio-facial variability. These may have substantial influence on the treatment outcome. The factors that can affect unilateral cleft lip and palate treatment outcome is multifactorial in nature and remained controversial in general. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

The characteristics and distribution of dental anomalies in patients with cleft.

PubMed

Wu, Ting-Ting; Chen, Philip K T; Lo, Lun-Jou; Cheng, Min-Chi; Ko, Ellen Wen-Ching

2011-01-01

Dental anomalies associated with different severities of cleft lip and palate have been rarely reported. This retrospective study investigates the characteristics of dental anomalies associated with different types of cleft, and compares the dental anomaly traits based on sex and severity of cleft. Cleft patients born in 1995 with qualified diagnostic records from 7 to 11 years were included for evaluation. Records were retrieved from database of Chang Gung Craniofacial Center, including panoramic radiographs and intraoral photographs. In total, 196 patients with complete records were included in the evaluation. This study compares the dental anomalies associated with each type of cleft. The frequency of dental anomalies in the maxillary incisor area in the cleft palate (CP) group (20%) was significantly lower than that in other groups. The frequency of missing maxillary lateral incisors (MLIs) increased as the cleft severity increased. Supernumerary teeth and missing lower incisors exhibited the opposite trend. No sexual dimorphism appeared in terms of the frequencies of peg laterals and missing MLIs. The distribution patterns of missing MLIs and peg laterals in males, but not in females, were consistent for the three types of unilateral clefts. Regarding the characteristics of dental anomalies among the three unilateral clefts, missing MLIs, supernumerary teeth, and missing lower incisors were found to be related to cleft severity. The maxillary lateral incisor was the most affected tooth in the cleft area. The frequency of missing MLIs and peg laterals was not sexual dimorphic, but the distribution pattern was different between the sexes.

Women Are More Susceptible to Caries but Individuals Born with Clefts Are Not

PubMed Central

Jindal, Aditi; McMeans, Michelle; Narayanan, Somnya; Rose, Erin K.; Jain, Shilpa; Marazita, Mary L.; Menezes, Renato; Letra, Ariadne; Carvalho, Flavia M.; Brandon, Carla A.; Resick, Judith M.; Mereb, Juan C.; Poletta, Fernando A.; Lopez-Camelo, Jorge S.; Castilla, Eduardo E.; Orioli, Iêda M.; Vieira, Alexandre R.

2011-01-01

The identification of individuals at a higher risk of developing caries is of great interest. Isolated forms of cleft lip and palate are among the most common craniofacial congenital anomalies in humans. Historically, several reports suggest that individuals born with clefts have a higher risk for caries. Caries continues to be the most common infectious noncontagious disease worldwide and a great burden to any health system. The identification of individuals of higher susceptibility to caries is of great interest. In this paper, we assessed caries experience of 1,593 individuals from three distinct populations. The study included individuals born with clefts, their unaffected relatives, and unrelated unaffected controls that were recruited from areas with similar cultural pressures and limited access to dental care. DMFT/dmft scores were obtained, and caries experience rates were compared among the three groups in each geographic area. Individuals born with clefts did not present higher caries experience in comparison to their unaffected relatives or unrelated unaffected controls. Women tend to present higher caries rates in comparison to men. Our work provides strong evidence that individuals born with clefts are not at higher risk to caries; however, women tend to have more severe caries experience. PMID:21747859

Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients

PubMed Central

Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

2017-01-01

Statement of the Problem: Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. Purpose: The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Materials and Method: Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. Results: The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). Conclusion: The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have played a role in developmental dental defects. PMID:29034274

Transoral robotic-assisted laryngeal cleft repair in the pediatric patient.

PubMed

Leonardis, Rachel L; Duvvuri, Umamaheswar; Mehta, Deepak

2014-09-01

To assess the feasibility of performing robotic-assisted laryngeal cleft repair in the pediatric population. Retrospective chart review at a tertiary academic children's hospital. All patients underwent transoral robotic-assisted laryngeal cleft repair from March 2011 to June 2013. Demographics, robotic docking time, operative time, and postoperative course and swallowing function were collected and analyzed. Five children, three male and two female, underwent successful transoral robotic-assisted laryngeal cleft repair for closure of a type I laryngeal cleft. Mean age at time of surgery was 21.6 months (standard deviation 6.1 months; range, 15-29 months). From case 1 to case 5, robotic docking time (18-10 minutes), robotic operative time (102-36 minutes), and total operating room time (173-105 minutes) decreased. There were no complications with time until extubation (range, 2-3 days), length of intensive care unit stay (range, 3-4 days), and total hospital stay (range, 3-5 days) within acceptable range following laryngeal cleft repair. Modified barium swallow (two patients) or fiberoptic endoscopic evaluation of swallowing (three patients) was performed postoperatively, with all patients showing complete resolution of penetration and aspiration. In addition, all patients experienced subjective resolution of dysphagia and/or choking with feeds postoperatively. Transoral robotic-assisted laryngeal cleft repair may offer specific advantages over a traditional endoscopic approach. In our experience, the procedure was well tolerated and associated with definitive surgical cure in all patients. The scope of robotic technology continually expands and should be considered a feasible tool at an institution-based level. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

Prevalence and types of articulation errors in Saudi Arabic-speaking children with repaired cleft lip and palate.

PubMed

Albustanji, Yusuf M; Albustanji, Mahmoud M; Hegazi, Mohamed M; Amayreh, Mousa M

2014-10-01

The purpose of this study was to assess prevalence and types of consonant production errors and phonological processes in Saudi Arabic-speaking children with repaired cleft lip and palate, and to determine the relationship between frequency of errors on one hand and the type of the cleft. Possible relationship between age, gender and frequency of errors was also investigated. Eighty Saudi children with repaired cleft lip and palate aged 6-15 years (mean 6.7 years), underwent speech, language, and hearing evaluation. The diagnosis of articulation deficits was based on the results of an Arabic articulation test. Phonological processes were reported based on the productivity scale of a minimum 20% of occurrence. Diagnosis of nasality was based on a 5-point scale that reflects severity from 0 through 4. All participants underwent intraoral examination, informal language assessment, and hearing evaluation to assess their speech and language abilities. The Chi-Square test for independence was used to analyze the results of consonant production as a function of type of CLP and age. Out of 80 participants with CLP, 21 participants had normal articulation and resonance, 59 of participants (74%) showed speech abnormalities. Twenty-one of these 59 participants showed only articulation errors; 17 showed only hypernasality; and 21 showed both articulation and resonance deficits. CAs were observed in 20 participant. The productive phonological processes were consonant backing, final consonant deletion, gliding, and stopping. At age 6 and older, 37% of participants had persisting hearing loss. Despite early age at time of surgery (mean 6.7 months) for the studied CLP participants in this study, a substantial number of them demonstrated articulation errors and hypernasality. The results showed desirable findings for diverse languages. It is especially interesting to consider the prevalence of glottal stops and pharyngeal fricatives in a population for whom these sound are phonemic. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.

PubMed

Hoyt, Adrienne T; Canfield, Mark A; Romitti, Paul A; Botto, Lorenzo D; Anderka, Marlene T; Krikov, Sergey V; Tarpey, Morgan K; Feldkamp, Marcia L

2016-11-01

While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers. We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects. The multisite National Birth Defects Prevention Study is the largest case-control study of birth defects to date in the United States. We selected cases from birth defect groups having >100 total cases, as well as all nonmalformed controls (10,200), from delivery years 1997 through 2009; 44 birth defects were examined. After excluding cases and controls from multiple births and whose mothers reported active smoking or pregestational diabetes, we analyzed data on periconceptional secondhand smoke exposure-encompassing the period 1 month prior to conception through the first trimester. For the birth defect craniosynostosis, we additionally examined the effect of exposure in the second and third trimesters as well due to the potential sensitivity to teratogens for this defect throughout pregnancy. Covariates included in all final models of birth defects with ≥5 exposed mothers were study site, previous live births, time between estimated date of delivery and interview date, maternal age at estimated date of delivery, race/ethnicity, education, body mass index, nativity, household income divided by number of people supported by this income, periconceptional alcohol consumption, and folic acid supplementation. For each birth defect examined, we used logistic regression analyses to estimate both crude and adjusted odds ratios and 95% confidence intervals for both isolated and total case groups for various sources of exposure (household only; workplace/school only; household and workplace/school; household or workplace/school). The prevalence of secondhand smoke exposure only across all sources ranged from 12.9-27.8% for cases and 14.5-15.8% for controls. The adjusted odds ratios for any vs no secondhand smoke exposure in the household or workplace/school and isolated birth defects were significantly elevated for neural tube defects (anencephaly: adjusted odds ratio, 1.66; 95% confidence interval, 1.22-2.25; and spina bifida: adjusted odds ratio, 1.49; 95% confidence interval, 1.20-1.86); orofacial clefts (cleft lip without cleft palate: adjusted odds ratio, 1.41; 95% confidence interval, 1.10-1.81; cleft lip with or without cleft palate: adjusted odds ratio, 1.24; 95% confidence interval, 1.05-1.46; cleft palate alone: adjusted odds ratio, 1.31; 95% confidence interval, 1.06-1.63); bilateral renal agenesis (adjusted odds ratio, 1.99; 95% confidence interval, 1.05-3.75); amniotic band syndrome-limb body wall complex (adjusted odds ratio, 1.66; 95% confidence interval, 1.10-2.51); and atrial septal defects, secundum (adjusted odds ratio, 1.37; 95% confidence interval, 1.09-1.72). There were no significant inverse associations observed. Additional studies replicating the findings are needed to better understand the moderate positive associations observed between periconceptional secondhand smoke and several birth defects in this analysis. Increased odds ratios resulting from chance (eg, multiple comparisons) or recall bias cannot be ruled out. Copyright © 2016 Elsevier Inc. All rights reserved.

[Dental anomalies in Chinese children with complete unilateral cleft lip and palate].

PubMed

Fan, Xin-xin; Li, Jing; Ge, Li-hong; Ma, Lian

2011-05-01

To investigate the prevalence of dental anomalies in Chinese children with complete unilateral cleft lip and palate (UCLP). Dental histories and radiographs of 244 Chinese children with UCLP were collected. The diagnosis of dental anomalies was based on panoramic radiographs before alveolar bone grafting. All patients were over 8 years old. In the UCLP group, 66.8% of the patients was presented with hypodontia. The maxillary lateral incisors were the most common teeth affected, followed by maxillary second premolars, mandibular incisors and mandibular second premolars. A total of 33.6% the patients was presented with dental malformation, most were microdontic laterel incisors. A total of 4.9% the patients was presented with hyperdontia. The supernumerary teeth were more frequently found in the cleft region. The prevalence of missing maxillary lateral incisor in the noncleft side was statistically different between genders, which was higher in male (P < 0.050). This group of Chinese children with UCLP demonstrated significantly higher prevalence of hypodontia, hyperdontia, and malformation on the cleft side than on the noncleft side (P < 0.01). Hypodontia is the most common type of dental anomalies. The prevalence of dental anomalies is higher in the UCLP patients than in the normal population. Dental anomalies occur more frequently on the cleft side than on the noncleft side.

Presurgical Nasoalveolar Molding for Correction of Cleft Lip Nasal Deformity: Experience From Northern India

PubMed Central

Mishra, Brijesh; Singh, Arun K.; Zaidi, Javed; Singh, G. K.; Agrawal, Rajiv; Kumar, Vijay

2010-01-01

Context: The cleft lip type nasal deformity presents one of the most complex surgical challenges. The long-term postoperative results are still not satisfactory despite an emphasis on primary nasal correction. This is attributed to tissue memory and healing. Nasoalveolar molding is used effectively to reshape the nasal cartilage and to mold the maxillary arch before cleft lip repair. Aims: This study was undertaken to evaluate the role of presurgical nasoalveolar molding in correction of cleft lip nasal deformity for patients with unilateral and bilateral clefts of the lip. Settings and Design: Twenty-three cases of clefts of lip and palate with nasal deformity were subjected to present study from May 2004 to May 2006. These cases were initially treated on outpatient basis, and they were admitted at the time of operation. All of these patients were children of less than 1 year of age, belonging to north Indian population. Material and Methods: Study consisted of patients of cleft lip and palate who were given presurgical nasoalveolar splints at early age. Lip repair was done after at least 2 months of molding. These patients along with control group (without presurgical nasoalveolar molding) were followed up for 1 year. Measurements were taken at different intervals in study over dental cast and on patients. Data obtained from comparison of 2 groups were analyzed using “MSTAT” analysis software (developed by Dr Russel Freed, Professor & Director, Crop & Soil Sciences Department, Michigan State University, East Lansing, Michigan). Results: In our study, we found that nostril height was more in patients of experimental group (P = .18), while nostril width and alar perimeter were not changed significantly. Children with nasoalveolar molding had significant lengthening of columella (P = .02). Patients of unilateral cleft lip had more reduction in alveolar gap (P = .08) than bilateral group (P = .15). Conclusions: Nasoalveolar molding can be a useful adjunct for treatment of cleft lip nasal deformity. It is a cost-effective technique that can reduce the number of future surgeries such as alveolar bone grafting and secondary rhinoplasties. PMID:20694165

Cleft lip and palate: an adverse pregnancy outcome due to undiagnosed maternal and paternal coeliac disease.

PubMed

Arakeri, Gururaj; Arali, Veena; Brennan, Peter A

2010-07-01

Development of orofacial component involves a complex series of events. Any insult to this significant event can lead to various orofacial cleft defects. The main categories among orofacial clefts are isolated cleft palate and cleft lip with or without cleft palate. There have been many factors implicated in the development of the anomaly. The environmental factors which contribute and the genes which predispose to the condition remain obscure despite decades of research. Though it is generally agreed that folic acid deficiency is a contributory factor for non-syndromic cleft lip and palate, fewer concerns are directed towards the role for maternal/paternal nutrition in orofacial cleft origin. However, previously undescribed, here we consider the potential influence of maternal and paternal coeliac disease on the etiology of non-syndromic cleft lip and palate as an unfavorable pregnancy outcome. We postulated this relationship based on our observation, study and an empirical survey, and could be due either to (I) folic acid mal absorption (II) a genetically mediated genomic imprinting system. Copyright 2010 Elsevier Ltd. All rights reserved.

Maternal exposure to ozone and PM{sub 2.5} and the prevalence of orofacial clefts in four U.S. states

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhou, Ying, E-mail: yzhou2@cdc.gov

Background: While there is some evidence that maternal exposure to ambient air pollution is associated with orofacial clefts in offspring, the epidemiologic studies have been largely equivocal. We evaluated whether maternal exposure to elevated county-level ambient fine particulate matter with aerodynamic diameter ≤2.5 µm (PM{sub 2.5}) and ozone during early gestation was associated with a higher prevalence of orofacial clefts. Methods: Birth data consisting of 4.7 million births from 2001 to 2007 were obtained from National Birth Defects Prevention Network for four states — Arizona, Florida, New York (excluding New York City), and Texas. The air pollution exposure assessment formore » gestational weeks 5–10 was based on county-level average concentrations of PM{sub 2.5} and ozone data generated using a Bayesian fusion model available through CDC's Environmental Public Health Tracking Network. Two outcomes were analyzed separately: cleft lip with or without cleft palate, cleft palate alone. In logistic regression analyses, we adjusted for factors that were suspected confounders or modifiers of the association between the prevalence of orofacial clefts and air pollution, i.e., infant sex, race-ethnicity, maternal education, smoking status during pregnancy, whether this was mother's first baby, maternal age. Results: Each 10 µg/m{sup 3} increase in PM{sub 2.5} concentration was significantly associated with cleft palate alone (OR =1.43, 95% CI: 1.11–1.86). There was no significant association between PM{sub 2.5} concentration and cleft lip with or without cleft palate. No associations were observed between ozone exposure and the two outcomes of orofacial clefts. Conclusions: Our study suggests that PM{sub 2.5} significantly increased the risk of cleft palate alone, but did not change the incidence of cleft lip with or without palate. Ozone levels did not correlate with incidence of orofacial clefts. - Highlights: • This is a large study with about 4.7 million births and 7000 orofacial cleft cases. • PM{sub 2.5} significantly increased the risk of cleft palate alone. • PM{sub 2.5} did not change the incidence of cleft lip with or without palate. • Ozone levels did not correlate with incidence of orofacial clefts.« less

RESIDENTIAL RADON AND BIRTH DEFECTS: A POPULATION-BASED ASSESSMENT

PubMed Central

Langlois, Peter H; Lee, MinJae; Lupo, Philip J; Rahbar, Mohammad H; Cortez, Ruben K

2015-01-01

BACKGROUND Associations have been reported between maternal radiation exposure and birth defects. No such studies were found on radon. Our objective was to determine if there is an association between living in areas with higher radon levels and birth defects. METHODS The Texas Birth Defects Registry provided data on all birth defects from 1999–2009 from the entire state. Mean radon levels by geologic region came from the Texas Indoor Radon Survey. The association between radon and birth defects was estimated using multilevel mixed effect Poisson regression. RESULTS Birth defects overall were not associated with residential radon levels. Of the 100 other birth defect groups with at least 500 cases, 14 were significantly elevated in areas with high mean radon level in crude analyses, and 9 after adjustment for confounders. Cleft lip with/without cleft palate had an adjusted prevalence ratio (aPR) of 1.16 per 1 picoCurie/liter (pCi/l) increase in exposure to region mean radon, 95% confidence interval (CI) 1.08, 1.26. Cystic hygroma / lymphangioma had an aPR of 1.22 per 1 pCi/l increase, 95% CI 1.02, 1.46. Other associations were suggested but not as consistent: three skeletal defects, Down syndrome, other specified anomalies of the brain, and other specified anomalies of the bladder and urethra. CONCLUSIONS In the first study of residential radon and birth defects, we found associations with cleft lip w/wo cleft palate and cystic hygroma / lymphangioma. Other associations were suggested. The ecological nature of this study and multiple comparisons suggest that our results be interpreted with caution. PMID:25846606

The Difference in Cervical Vertebral Skeletal Maturation between Cleft Lip/Palate and Non-Cleft Lip/Palate Orthodontic Patients.

PubMed

Batwa, Waeil; Almoammar, Khalid; Aljohar, Aziza; Alhussein, Abdullah; Almujel, Saad; Zawawi, Khalid H

2018-01-01

The aim was to evaluate differences in the cervical vertebral skeletal maturity of unilateral cleft lip and palate (UCLP) and non-cleft lip/palate (non-CLP) Saudi male orthodontic patients. This cross-sectional multicenter study took place at the dental school, King Saud University and King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, between October 2014 and September 2015. The records of Saudi male orthodontic patients with UCLP ( n = 69) were collected. Cervical vertebral maturation was assessed using their cephalometric radiographs. The records of 138 age-matched non-CLP Saudi male orthodontic patients served as controls. There was a significant difference in skeletal maturity between the UCLP and non-CLP groups, as evident in the delayed skeletal development among the UCLP participants. Moreover, pubertal growth spurt onset was significantly earlier in the non-cleft participants in comparison with the UCLP participants ( p = 0.009). There is delayed skeletal maturity among the UCLP Saudi male population in comparison with their non-CLP age-matched peers.

Comparing Plastic Surgery and Otolaryngology Management in Cleft Care: An Analysis of 4,999 Cases.

PubMed

Jubbal, Kevin T; Zavlin, Dmitry; Olorunnipa, Shola; Echo, Anthony; Buchanan, Edward P; Hollier, Larry H

2017-12-01

Care for patients with cleft lip and palate is best managed by a craniofacial team consisting of a variety of specialists, including surgeons, who are generally plastic surgeons or otolaryngologists trained in the United States. The goal of this study was to compare the surgical approaches and management algorithms of cleft lip, cleft palate, and nasal reconstruction between plastic surgeons and otolaryngologists. We performed a retrospective analysis of the American College of Surgeons' National Surgical Quality Improvement Program Pediatric database between 2012 and 2014 to identify patients undergoing primary repair of cleft lip, cleft palate, and associated rhinoplasty. Two cohorts based on primary specialty, plastic surgeons and otolaryngologists, were compared in relation to patient characteristics, 30-day postoperative outcomes, procedure type, and intraoperative variables. Plastic surgeons performed the majority of surgical repairs, with 85.5% ( n  = 1,472) of cleft lip, 79.3% ( n  = 2,179) of cleft palate, and 87.9% ( n  = 465) of rhinoplasty procedures. There was no difference in the age of primary cleft lip repair or rhinoplasty. However, plastic surgeons performed primary cleft palate repair earlier than otolaryngologists ( p  = 0.03). Procedure type varied between the specialties. In rhinoplasty, otolaryngologists were more likely to use septal or ear cartilage, whereas plastic surgeons preferred rib cartilage. Results were similar, with no statistically significant difference in terms of mortality, reoperation, readmission, or complications. Significant variation exists in the treatment of cleft lip and palate based on specialty service with regard to procedure timing and type. However, short-term rates of mortality, wound occurrence, reoperation, readmission, and surgical or medical complications remain similar.

Dental Anomalies in Different Types of Cleft Lip and Palate: Is There Any Relation?

PubMed

Germec Cakan, Derya; Nur Yilmaz, Rahime Burcu; Bulut, Feyza Nur; Aksoy, Ayca

2018-02-26

The aims of this study were to evaluate the prevalence of dental anomalies in Turkish patients with different types of cleft lip and palate (CLP) and investigate the relationship between the type of cleft and the dental anomaly. Eighty-eight patients with cleft lip and/or palate (mean age: 14.1 ± 6.4 years) were enrolled in this retrospective study. Dental models, panoramic radiographs, and intraoral photographs of these patients were evaluated to detect any maxillary dental anomaly (number and size anomalies). Two hundred fifty unaffected subjects (mean age: 15.2 ± 7.2 years) composed the control group. Data were evaluated using the independent t test, χ, Fischer exact test, and the odds ratio. Dental anomaly frequency was significantly higher in the cleft group compared with the control group. Tooth agenesis was the most common dental anomaly, followed by microdontia and supernumerary tooth. Lateral incisor agenesis was seen in 69% of the unilateral CLP, in 78% of the bilateral CLP, and in 18% of the cleft palate patients. A significant association was revealed between the right unilateral CLP and the right lateral incisor agenesis (P = 0.0001), the left unilateral CLP and the left lateral incisor agenesis (P = 0.002), and the bilateral CLP and the bilateral lateral incisor agenesis (P = 0.0001). Dental anomalies are more frequently seen in patients with CLP compared with the general population. There is a relationship between the cleft type and the ipsilateral lateral incisor agenesis.

Differentiation between Cystic Pituitary Adenomas and Rathke Cleft Cysts: A Diagnostic Model Using MRI.

PubMed

Park, M; Lee, S-K; Choi, J; Kim, S-H; Kim, S H; Shin, N-Y; Kim, J; Ahn, S S

2015-10-01

Cystic pituitary adenomas may mimic Rathke cleft cysts when there is no solid enhancing component found on MR imaging, and preoperative differentiation may enable a more appropriate selection of treatment strategies. We investigated the diagnostic potential of MR imaging features to differentiate cystic pituitary adenomas from Rathke cleft cysts and to develop a diagnostic model. This retrospective study included 54 patients with a cystic pituitary adenoma (40 women; mean age, 37.7 years) and 28 with a Rathke cleft cyst (18 women; mean age, 31.5 years) who underwent MR imaging followed by surgery. The following imaging features were assessed: the presence or absence of a fluid-fluid level, a hypointense rim on T2-weighted images, septation, an off-midline location, the presence or absence of an intracystic nodule, size change, and signal change. On the basis of the results of logistic regression analysis, a diagnostic tree model was developed to differentiate between cystic pituitary adenomas and Rathke cleft cysts. External validation was performed for an additional 16 patients with a cystic pituitary adenoma and 8 patients with a Rathke cleft cyst. The presence of a fluid-fluid level, a hypointense rim on T2-weighted images, septation, and an off-midline location were more common with pituitary adenomas, whereas the presence of an intracystic nodule was more common with Rathke cleft cysts. Multiple logistic regression analysis showed that cystic pituitary adenomas and Rathke cleft cysts can be distinguished on the basis of the presence of a fluid-fluid level, septation, an off-midline location, and the presence of an intracystic nodule (P = .006, .032, .001, and .023, respectively). Among 24 patients in the external validation population, 22 were classified correctly on the basis of the diagnostic tree model used in this study. A systematic approach using this diagnostic tree model can be helpful in distinguishing cystic pituitary adenomas from Rathke cleft cysts. © 2015 by American Journal of Neuroradiology.

Measuring quality of life in cleft lip and palate patients: currently available patient-reported outcomes measures.

PubMed

Eckstein, Donna A; Wu, Rebecca L; Akinbiyi, Takintope; Silver, Lester; Taub, Peter J

2011-11-01

Patient-reported outcomes in cleft lip and palate treatment are critical for patient care. Traditional surgical outcomes focused on objective measures, such as photographs, anatomic measurements, morbidity, and mortality. Although these remain important, they leave many questions unanswered. Surveys that include aesthetics, speech, functionality, self-image, and quality of life provide more thorough outcomes assessment. It is vital that reliable, valid, and comprehensive questionnaires are available to craniofacial surgeons. The authors performed a literature review to identify questionnaires validated in cleft lip and palate patients. Qualifying instruments were assessed for adherence to guidelines for development and validation by the scientific advisory committee and for content. The authors identified 44 measures used in cleft lip and palate studies. After 15 ad hoc questionnaires, eight generic instruments, 11 psychiatric instruments, and one non-English language questionnaire were excluded, nine measures remained. Of these, four were never validated in the cleft population. Analysis revealed one craniofacial-specific measure (Youth Quality of Life-Facial Differences), two voice-related measures (Patient Voice-Related Quality of Life and Cleft Audit Protocol for Speech-Augmented), and two oral health-related measures (Child Oral Health Impact Profile and Child Oral Health Quality of Life). The Youth Quality of Life-Facial Differences, Child Oral Health Impact Profile, and Child Oral Health Quality of Life questionnaires were sufficiently validated. None was created specifically for clefts, resulting in content limitations. There is a lack of comprehensive, valid, and reliable questionnaires for cleft lip and palate surgery. For thorough assessment of satisfaction, further research to develop and validate cleft lip and palate surgery-specific instruments is needed.

Postoperative alar base symmetry in complete unilateral cleft lip and palate:A prospective study.

PubMed

Vyloppilli, Suresh; Krishnakumar, K S; Sayd, Shermil; Latheef, Sameer; Narayanan, Saju V; Pati, Ajit

2017-11-01

In the evolution of cleft lip repair, there have been continuous attempts to minimize local trauma and to improve lip and nasal appearances. In order to obtain an aesthetically balanced development of midface, the primary surgical correction of the nasolabial area is of paramount importance. In this study, the importance of a back-cut extending cephalically above the inferior turbinate at the mucocutaneous junction which elevates the nostril floor on the cleft side for the purpose of achieving symmetry of the alar bases are analyzed by pre and postoperative photographic anthropometry. This study comprised of fifty cases of the unilateral complete cleft lip. At the time of surgery, the patient age ranged from 3-9 months. The surgeries, performed by a single surgeon, employed the standard Millard technique, incorporating Mohler modifications of lip repair. Anthropometric analysis revealed that the preoperative mean difference between the normal side and the cleft side was 0.2056 with a standard deviation of 0.133. In the postoperative analysis, the mean difference was reduced to 0.0174 with a standard deviation of 0.141. The paired t-test showed that the p-value is <0.001, indicating high statistical significance. To conclude, in complete unilateral cleft lip and palate, the geometrically placed nasal back-cut incision has a definite role in the correction of the alar base symmetry during primary surgery. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Evidence-based medicine: cleft palate.

PubMed

Chepla, Kyle J; Gosain, Arun K

2013-12-01

After reading this article, the participant should be able to: 1. Describe recent changes in treatment of cleft palate. 2. Compare the efficacy of different surgical treatments. 3. Assess their own knowledge of cleft palate repair. 4. Determine where further individual in-depth study and development are warranted. The Maintenance of Certification in Plastic Surgery series is designed to ensure professional development and measure continued competency within a specialty or subspecialty. The present article provides an evaluation of the interval studies regarding the management of cleft palate with a specific focus on craniofacial growth, speech outcomes, and obstructive sleep apnea since the last Maintenance of Certification in Plastic Surgery article on the subject published in 2010. This purpose of this article is to update plastic and craniomaxillofacial surgeons on recent changes in treatment of cleft palate, provide a means for accurate self-assessment, and guide further individual in-depth study and development.

Nasal Obstruction in Children With Cleft Lip and Palate: Results of a Cross-Sectional Study Utilizing the NOSE Scale.

PubMed

Zhang, Rosaline S; Lin, Lawrence O; Hoppe, Ian C; Jackson, Oksana A; Low, David W; Bartlett, Scott P; Swanson, Jordan W; Taylor, Jesse A

2018-01-01

To characterize the epidemiology and risk factors for nasal obstruction among subjects with cleft lip and/or cleft palate (CL/P) utilizing the well-validated Nasal Obstruction Symptom Evaluation (NOSE) survey. Retrospective cross-sectional study. Cleft Lip and Palate Program, Children's Hospital of Philadelphia. Patients, Subjects: One thousand twenty-eight surveys obtained from 456 subjects (mean age: 10.10 (4.48) years) with CL/P evaluated between January 2015 and August 2017 with at least 1 completed NOSE survey. Nasal Obstruction Symptom Evaluation surveys completed at each annual visit. Composite NOSE and individual symptom scores. Sixty-seven percent of subjects had nasal obstruction at some point during the study period, with 49% reporting nasal obstruction at latest follow-up. subjects aged 14 years and older reported the most severe symptoms ( P = .002). Subjects with cleft lip and alveolus (CL+A) and unilateral cleft lip and palate (CLP) reported more severe nasal blockage than other phenotypes ( P = .021). subjects with a history of either posterior pharyngeal flap (PPF) or sphincter pharyngoplasty (SP) had significantly higher NOSE scores than subjects with no history of speech surgery ( P = .006). There was no significant difference ( P > .050) in NOSE scores with regard to history of primary tip rhinoplasty, nasal stent use, or nasoalveolar molding. There are more severe nasal obstructive symptoms among subjects older than 14 years of age, with CL+A or unilateral CLP, and with a history of PPF or SP. Future studies utilizing the NOSE are needed to evaluate and address this prevalent morbidity in the CLP population.

MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile.

PubMed

Ramírez-Chau, C; Blanco, R; Colombo, A; Pardo, R; Suazo, J

2016-10-01

The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). We assessed this association in a Chilean population using a combined analysis of case-control and case-parent trio samples. Samples of 165 cases and 291 controls and 121 case-parent trios (sharing the cases) were genotyped. Odds ratio (OR) was estimated for case-control (allele and genotype frequency differences), and this result was confirmed by allele transmission distortion in trios. Due to that these samples are not independent, a combined OR was also computed. Maternal genotype effect was additionally evaluated based on a log-linear method. Borderline but not significant OR (1.28; CI 0.97-1.69) was observed for risk allele (T) in the case-control sample. However, triad sample showed a significant association (OR 1.56: CI 1.09-2.25) which was confirmed by the combined OR (1.37; CI 1.11-1.71). Maternal genotype has been also associated with the phenotype (P = 0.002). In contrast to previous reports considering Chilean subjects, our results demonstrated that the offspring and maternal genotypes for MTHFR c.677C>T variant are strongly associated with NSCL/P in this Chilean population. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Centre-level variation in behaviour and the predictors of behaviour in 5-year-old children with non-syndromic unilateral cleft lip: The Cleft Care UK study. Part 5.

PubMed

Waylen, A; Mahmoud, O; Wills, A K; Sell, D; Sandy, J R; Ness, A R

2017-06-01

The aims of this study were to describe child behavioural and psychosocial outcomes associated with appearance and speech in the Cleft Care UK (CCUK) study. We also wanted to explore centre-level variation in child outcomes and investigate individual predictors of such outcomes. Two hundred and sixty-eight five-year-old children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK. Parents completed the Strengths and Difficulties questionnaire (SDQ) and reported their own perceptions of the child's self-confidence. Child facial appearance and symmetry were assessed using photographs, and intelligibility of speech was derived from audio-visual speech recordings. Centre-level variation in behavioural and psychosocial outcomes was examined using hierarchical models, and associations with clinical outcomes were examined using logit regression models. Children with UCLP had a higher hyperactive difficulty score than the general population. For boys, the average score was 4.5 vs 4.1 (P=.03), and for girls, the average score was 3.8 vs 3.1 (P=.008). There was no evidence of centre-level variation for behaviour or parental perceptions of the child's self-confidence. There is no evidence of associations between self-confidence and SDQ scores and either facial appearance or behaviour. Children born with UCLP have higher levels of behaviour problems than the general population. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shi, Jinna, E-mail: kqkjk@yahoo.com.cn; Song, Tao; Jiao, Xiaohui

2011-07-15

Highlights: {yields} IRF6 rs642961 polymorphism is intensively associated with NSCLP. {yields} IRF6 rs2235371 polymorphism is not associated with NSCLP in the northern Chinese population. {yields} This investigation failed to yield any evidence for the involvement of TFAP2A polymorphisms in NSCLP in the northern Chinese population. -- Abstract: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that is presumably caused by genetic factors alone or gene alterations in combination with environmental changes. A number of studies have shown an association between NSCLP and single-nucleotide polymorphisms (SNPs) in the interferon regulatory factor 6 (IRF6) gene inmore » several populations. The transcription factor AP-2a (TFAP2A), which is involved in regulating mid-face development and upper lip fusion, has also be considered a candidate gene contributing to the etiology of NSCLP. The potential importance of IRF6 and TFAP2A in the NSCLP is further highlighted by a study showing that the two molecules are in the same developmental pathway. To further assess the roles of the IRF6 and TFAP2A in NSCLP, we investigated two identified IRF6 SNPs (rs2235371, rs642961) and three TFAP2A tag SNPs (rs3798691, rs1675414, rs303050) selected from HapMap data in a northern Chinese population, a group with a high prevalence of NSCLP. These SNPs were examined for association with NSCLP in 175 patients and 160 healthy controls. We observed a significant correlation between IRF6 rs642961 and NSCLP, and a lack of association between IRF6 rs2235371 polymorphisms and NSCLP in this population. This investigation indicated that there is no association between the three SNPs in the TFAP2A and NSCLP, suggesting that TFAP2A may not be involved in the development of NSCLP in the northern Chinese population. Our study provides further evidence regarding the role of IRF6 variations in NSCLP development and finds no significant association between TFAP2A and NSCLP in this northern Chinese population.« less

Periconceptional use of folic acid and risk of miscarriage - findings of the Oral Cleft Prevention Program in Brazil.

PubMed

Vila-Nova, Camila; Wehby, George L; Queirós, Fernanda C; Chakraborty, Hrishkesh; Félix, Temis M; Goco, Norman; Moore, Janet; Gewehr, Eduardo V; Lins, Lorene; Affonso, Carla M C; Murray, Jeffrey C

2013-07-01

We report on the risk of miscarriage with high- and low-dosage periconceptional folic acid (FA) supplementation from a double-blind randomized clinical trial for prevention of orofacial cleft recurrence in Brazil. Women at risk of recurrence of orofacial clefts in their offspring were randomized into high (4 mg/day) and low (0.4 mg/day) doses of FA supplementation. The women received the study pills before pregnancy, and supplementation continued throughout the first trimester. Miscarriage rates were compared between the two FA groups and with the population rate. A total of 268 pregnancies completed the study protocol, with 141 in the 4.0-mg group and 127 in the 0.4-mg group. The miscarriage rate was 14.2% in the low-dose FA group (0.4 mg/day) and 11.3% for the high-dose group (4 mg/day) (P=0.4877). These miscarriage rates are not significantly different from the miscarriage rate in the Brazilian population, estimated to be around 14% (P=0.311). These results indicate that high-dose FA does not increase miscarriage risk in this population and add further information to the literature on the safety of high FA supplementation for prevention of birth defect recurrence.

Economic Valuation of the Global Burden of Cleft Disease Averted by a Large Cleft Charity.

PubMed

Poenaru, Dan; Lin, Dan; Corlew, Scott

2016-05-01

This study attempts to quantify the burden of disease averted through the global surgical work of a large cleft charity, and estimate the economic impact of this effort over a 10-year period. Anonymized data of all primary cleft lip and cleft palate procedures in the Smile Train database were analyzed and disability-adjusted life years (DALYs) calculated using country-specific life expectancy tables, established disability weights, and estimated success of surgery and residual disability probabilities; multiple age weighting and discounting permutations were included. Averted DALYs were calculated and gross national income (GNI) per capita was then multiplied by averted DALYs to estimate economic gains. 548,147 primary cleft procedures were performed in 83 countries between 2001 and 2011. 547,769 records contained complete data available for the study; 58 % were cleft lip and 42 % cleft palate. Averted DALYs ranged between 1.46 and 4.95 M. The mean economic impact ranged between USD 5510 and 50,634 per person. This corresponded to a global economic impact of between USD 3.0B and 27.7B USD, depending on the DALY and GNI values used. The estimated cost of providing these procedures based on an average reimbursement rate was USD 197M (0.7-6.6 % of the estimated impact). The immense economic gain realized through procedures focused on a small proportion of the surgical burden of disease highlights the importance and cost-effectiveness of surgical treatment globally. This methodology can be applied to evaluate interventions for other conditions, and for evidence-based health care resource allocation.

Maternal exposure to ozone and PM2.5 and the prevalence of orofacial clefts in four U.S. states

PubMed Central

Zhou, Ying; Gilboa, Suzanne M.; Herdt, Michele L.; Lupo, Philip J.; Flanders, W. Dana; Liu, Yang; Shin, Mikyong; Canfield, Mark A.; Kirby, Russell S.

2017-01-01

Background While there is some evidence that maternal exposure to ambient air pollution is associated with orofacial clefts in offspring, the epidemiologic studies have been largely equivocal. We evaluated whether maternal exposure to elevated county-level ambient fine particulate matter with aerodynamic diameter ≤2.5 μm (PM2.5) and ozone during early gestation was associated with a higher prevalence of orofacial clefts. Methods Birth data consisting of 4.7 million births from 2001 to 2007 were obtained from National Birth Defects Prevention Network for four states — Arizona, Florida, New York (excluding New York City), and Texas. The air pollution exposure assessment for gestational weeks 5–10 was based on county-level average concentrations of PM2.5 and ozone data generated using a Bayesian fusion model available through CDC's Environmental Public Health Tracking Network. Two outcomes were analyzed separately: cleft lip with or without cleft palate, cleft palate alone. In logistic regression analyses, we adjusted for factors that were suspected confounders or modifiers of the association between the prevalence of orofacial clefts and air pollution, i.e., infant sex, race-ethnicity, maternal education, smoking status during pregnancy, whether this was mother's first baby, maternal age. Results Each 10 μg/m3 increase in PM2.5 concentration was significantly associated with cleft palate alone (OR =1.43, 95% CI: 1.11–1.86). There was no significant association between PM2.5 concentration and cleft lip with or without cleft palate. No associations were observed between ozone exposure and the two outcomes of orofacial clefts. Conclusions Our study suggests that PM2.5 significantly increased the risk of cleft palate alone, but did not change the incidence of cleft lip with or without palate. Ozone levels did not correlate with incidence of orofacial clefts. PMID:27888746

The Effectiveness of Psychosocial Intervention for Individuals With Cleft Lip and/or Palate.

PubMed

Norman, Alyson; Persson, Martin; Stock, Nicola; Rumsey, Nichola; Sandy, Jonathan; Waylen, Andrea; Edwards, Zoe; Hammond, Vanessa; Partridge, Lucy; Ness, Andy

2015-05-01

The aim of this review was to assess the effectiveness of different psychological interventions for children and adults with cleft lip and/or palate and their parents. We searched six databases including MEDLINE and EMBASE to June 2013 and checked bibliographies. We included research that evaluated any psychological intervention in studies in which at least 90% of the participants had cleft lip and/or palate or were parents of those with cleft lip and/or palate. Studies containing less than 90% were excluded unless they reported results separately for those with cleft lip and/or palate, or raw data were available upon request from the authors. Inclusion assessment, data extraction, and risk of bias assessment were carried out independently by two reviewers. Seven studies were identified as inclusions, with only two studies being included in the full data analysis (one of which failed to meet the full inclusion criteria). The five remaining studies were included only in a narrative synthesis because data were available for people or parents of those with cleft lip and/or palate only. This highlights a distinct dearth of research into psychological intervention within the field of cleft lip and/or palate. The review found no evidence to support any specific intervention. Key uncertainties need to be identified and addressed. Adequately powered, methodologically rigorous randomized controlled trials are needed to provide a secure evidence base for psychological intervention techniques in participants with cleft lip and/or palate and their parents.

PVRL1 as a Candidate Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate: No Evidence for the Involvement of Common or Rare Variants in Southern Han Chinese Patients

PubMed Central

Cheng, Hong-Qiu; Huang, En-Min; Xu, Ming-Yan; Shu, Shen-You

2012-01-01

The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell–cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). In addition, PVRL1 mutations have been associated with nonsyndromic cleft lip with or without a cleft palate (NSCL/P) in studies of multiethnic samples. To investigate the possible involvement of this gene in southern Han Chinese NSCL/P patients, we performed (i) a case–control association study, and (ii) a resequencing study. A set of 470 patients with NSCL/P and 693 controls were recruited, and a total of 45 tagging single-nucleotide polymorphisms (SNPs) were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. In the resequencing study, the coding regions of the PVRL1 α isoform were direct sequenced in 45 trios from multiply affected families. One (rs7128327) of the 45 tested SNPs showed a trend toward statistical significance in the genotypic-level chi-square test (p=0.009567). However, this result did not withstand correction for multiple testing. Likewise, sliding window haplotype analyses consisting of two, three, or four SNPs failed to detect any positive association. Resequencing analysis also failed to identify any novel rare sequence variants. In conclusion, the present study provided no support for the hypothesis that common or rare variants in PVRL1 play a significant role in NSCL/P development in the southern Han Chinese population. This is the first study that has used tagging SNPs covering all the coding and noncoding regions to search for common NSCL/P-associated mutations of PVRL1. PMID:22455396

Description of Mexican Cleft Surgeons' Experience With Foreign Surgical Volunteer Missions in Mexico.

PubMed

Schoenbrunner, Anna R; Kelley, Kristen D; Buckstaff, Taylor; McIntyre, Joyce K; Sigler, Alicia; Gosman, Amanda A

2018-05-01

Mexican cleft surgeons provide multidisciplinary comprehensive cleft lip and palate care to children in Mexico. Many Mexican cleft surgeons have extensive experience with foreign, visiting surgeons. The purpose of this study was to characterize Mexican cleft surgeons' domestic and volunteer practice and to learn more about Mexican cleft surgeons' experience with visiting surgeons. A cross-sectional validated e-mail survey tool was sent to Mexican cleft surgeons through 2 Mexican plastic surgery societies and the Asociación Mexicana de Labio y Paladar Hendido y Anomalías Craneofaciales, the national cleft palate society that includes plastic and maxillofacial surgeons who specialize in cleft surgery. We utilized validated survey methodology, including neutral fact-based questions and repeated e-mails to survey nonresponders to maximize validity of statistical data; response rate was 30.6% (n = 81). Mexican cleft surgeons performed, on average, 37.7 primary palate repairs per year with an overall complication rate of 2.5%; 34.6% (n = 28) of respondents had direct experience with patients operated on by visiting surgeons; 53.6% of these respondents performed corrective surgery because of complications from visiting surgeons. Respondents rated 48% of the functional outcomes of visiting surgeons as "acceptable," whereas 43% rated aesthetic outcomes of visiting surgeons as "poor"; 73.3% of respondents were never paid for the corrective surgeries they performed. Thirty-three percent of Mexican cleft surgeons believe that there is a role for educational collaboration with visiting surgeons. Mexican cleft surgeons have a high volume of primary cleft palate repairs in their domestic practice with good outcomes. Visiting surgeons may play an important role in Mexican cleft care through educational collaborations that complement the strengths of Mexican cleft surgeons.

Cleft Lip – A Comprehensive Review

PubMed Central

Shkoukani, Mahdi A.; Chen, Michael; Vong, Angela

2013-01-01

Orofacial clefts comprise a range of congenital deformities and are the most common head and neck congenital malformation. Clefting has significant psychological and socio- economic effects on patient quality of life and require a multidisciplinary team approach for management. The complex interplay between genetic and environmental factors play a significant role in the incidence and cause of clefting. In this review, the embryology, classification, epidemiology, and etiology of cleft lip are discussed. The primary goals of surgical repair are to restore normal function, speech development, and facial esthetics. Different techniques are employed based on surgeon expertise and the unique patient presentations. Pre-surgical orthopedics are frequently employed prior to definitive repair to improve outcomes. Long term follow up and quality of life studies are discussed. PMID:24400297

The financial impact of multidisciplinary cleft care: an analysis of hospital revenue to advance program development.

PubMed

Deleyiannis, Frederic W-B; TeBockhorst, Seth; Castro, Darren A

2013-03-01

The purpose of this study was to determine the financial impact of cleft care on the hospital and to evaluate trends in reimbursement over the past 6 years. Medical and accounting records of 327 consecutive infants undergoing cleft repair between 2005 and 2011 were reviewed. Charges, payments, and direct cost data were analyzed to illustrate hospital revenue and margins. Hospital payments for all inpatient services (cleft and noncleft) during the first 24 months of life were $9,483,168. Mean hospital payment varied from $5525 (Medicaid) to $10,274 (managed care) for a cleft lip repair (p < 0.0001) and from $6573 (Medicaid) to $12,933 (managed care) for a cleft palate repair (p < 0.0001). Hospital charges for a definitive lip or palate repair to both Medicaid and managed care more than doubled between 2005 and 2011 (p < 0.0001). Overall, mean hospital margins were $3904 and $3520, respectively, for a cleft lip repair and cleft palate repair. Medicaid physician payments for cleft lip and palate were, respectively, $588 and $646. From 2005 to 2006, 2007 to 2008, and 2009 to 2010, 41 percent, 43 percent, and 63 percent of patients, respectively, were enrolled in Medicaid. Cleft care generates substantial revenue for the hospital. For their mutual benefit, hospitals should join with their cleft teams to provide administrative support. Bolstered reimbursement figures, based on the overall value of cleft care to the hospital system, would better attract and retain skilled clinicians dedicated to cleft care. This may become particularly important if Medicaid enrollment continues to increase.

[Cleft lip and palate: Health-related quality of life (French VSP-A scale) for patients and their family. About 51 families].

PubMed

François-Fiquet, C; Dupouy, M; Daoud, S; Poli-Merol, M-L

2015-06-01

The aim of our study was to investigate the quality of life of patients undergoing cleft lip or cleft lip and palate as well as the perception of quality of life of patients perceived by their parents slot. Fifty-one adolescents and young adults (29 boys and 22 girls) who underwent cleft lip (FL 22) or lip and palate (CLP 29) and their parents have received psychological and surgical joint consultation. The minimum age for inclusion was 10 years (mean age 15.5 years). A quality of life questionnaire (VSP-A) "children" was given between 10 and 11 years and a questionnaire "adolescents" beyond. Parents have them answered a questionnaire of perceived quality of life of their children. The results were analyzed and compared to a control population (Statistics Student test). Perceived parents lived in relation to their children was obtained through the study of linear regression curves. The response rate to the questionnaires was 66.7% for parents, 85.7% for children and 63.6% for teenagers. The quality of life of the patients was assessed by the patients to 65.1/100 on average. The index of overall quality of life was superimposed on the control population (p=0.66). Perceived quality of life of patients by their parents was fairly close to the quality of life described by patients (66.5). On the areas of family, education, recreation, quality index was proportionately less than for other areas. For each of these areas, parents overestimated the quality of life of their child. Compared to the control group the fields of education, leisure, vitality quality index were significantly lower in the/FL population P. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Bilateral superiorly based full-thickness nasolabial island flaps for closure of residual anterior palatal fistulas in an unoperated elderly patient.

PubMed

Erçöçen, A R; Yilmaz, S; Saydam, M

2003-01-01

Unoperated bilateral complete cleft lip and palate in an adult or elderly patient is seen rarely, and the existence of unoperated clefts is a result of unfavorable economic and social circumstances. We report an unoperated 65-year-old patient with bilateral complete cleft lip and palate and present our preference for the surgical management. Repair of the bilateral complete cleft lip and palate was successfully carried out using straight-line closure for the bilateral cleft lip and two-flap pushback palatoplasty with superiorly based lateral port control pharyngeal flap for the wide cleft palate at the first stage, and large residual anterior palatal fistulas were closed using bilateral superiorly based (retrograde flow) full-thickness nasolabial island flaps at the second stage. To our knowledge based on a review of the literature, this is the first report of an elderly patient with bilateral complete cleft lip and palate and the first application of bilateral superiorly based (retrograde flow) full-thickness nasolabial island flaps for closure of large residual anterior palatal fistulas or alveolar clefts. The bilateral superiorly based (retrograde flow) full-thickness nasolabial island flap may be a good solution in large anterior palatal defects using unilaterally or bilaterally in a single stage with minimal donor site morbidity, in which there is not enough tissue for local repair or if previous attempts are unsuccessful.

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

PubMed Central

Böhmer, Anne C.; Bowes, John; Nikolić, Miloš; Ishorst, Nina; Wyatt, Niki; Hammond, Nigel L.; Gölz, Lina; Thieme, Frederic; Barth, Sandra; Schuenke, Hannah; Klamt, Johanna; Spielmann, Malte; Aldhorae, Khalid; Rojas-Martinez, Augusto; Nöthen, Markus M.; Rada-Iglesias, Alvaro; Dixon, Michael J.; Knapp, Michael; Mangold, Elisabeth

2017-01-01

Abstract Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue. This enrichment is also detectable in hNCC regions primed for later activity. Using GCTA analyses, we suggest that 30% of the estimated variance in risk for nsCL/P in the European population can be attributed to common variants, with 25.5% contributed to by the 24 risk loci known to date. For each of these, we identify credible SNPs using a Bayesian refinement approach, with two loci harbouring only one probable causal variant. Finally, we demonstrate that there is no polygenic component of nsCL/P detectable that is shared with nonsyndromic cleft palate only (nsCPO). Our data suggest that, while common variants are strongly contributing to risk for nsCL/P, they do not seem to be involved in nsCPO which might be more often caused by rare deleterious variants. Our study generates novel insights into both nsCL/P and nsCPO etiology and provides a systematic framework for research into craniofacial development and malformation. PMID:28087736

In utero exposure to valproate increases the risk of isolated cleft palate.

PubMed

Jackson, Adam; Bromley, Rebecca; Morrow, James; Irwin, Beth; Clayton-Smith, Jill

2016-05-01

Orofacial clefting (OFC) has been described in infants exposed to valproic acid (VPA) prenatally, but often no distinction is made between cleft lip and palate (CLP) and isolated cleft palate (ICP). This distinction is important as these conditions have different management implications and the distinction has implications too for understanding the teratogenic mechanisms. We searched EMBASE, Medline and Web of Science for observational studies describing OFC in association with VPA exposure. Searches for similarly exposed patients referred to a regional genetic centre and those recorded in the UK Epilepsy and Pregnancy Register (UKEPR) were undertaken. Cleft type and, where available, VPA doses prescribed were recorded. A total of 4459 cases of VPA exposure were reported in the literature in nine separate studies with 50 cases of OFC, the majority of which did not differentiate the cleft type. Eight patients ascertained through the regional genetic centre had ICP. Thirteen cases of OFC occurred in 1282 VPA monotherapy-exposed pregnancies in the UKEPR; nine had ICP and four had CLP, representing an 11.3-fold and 3.5-fold increase risk in ICP and CLP, respectively, over general population risk. Doses ranged from 200 to 2500 mg VPA daily with 73% of monotherapy ICP cases from the local cohort and UKEPR occurring at doses over 1000 mg. ICP is the predominant cleft type seen in prenatal VPA exposure. Parents should be counselled appropriately and infants should undergo review after delivery for ICP. Pregnancy registers collecting information on congenital anomalies should make the distinction between CLP and ICP as the risk differs across the two conditions. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Cephalometric study of facial growth in children after combined pushback and pharyngeal flap operations.

PubMed

Pearl, R M; Kaplan, E N

1976-04-01

Linear and angular cephalometric measurements of children who had had combined palatal pushbacks and superiorly-based pharyngeal flaps do not show later growth retardation of the face. There was an inherent tendency for children with overt clefts of the secondary palate, classic submucous clefts, or occult submucous clefts to demonstrate pre-operatively a narrow SNA and SNB--but the difference between these angles (ANB) was normal.

Assessment of complete unilateral cleft lip and palate treatment outcome using EUROCRAN index and associated factors.

PubMed

Arshad, Anas Imran; Alam, Mohammad Khursheed; Khamis, Mohd Fadhli

2017-09-01

Assessment of treatment outcome is the only non-invasive approach to identify the effects of cleft lip and palate repair and modify management accordingly. Here the aim is to assess the outcome of complete unilateral cleft lip and palate (CUCLP) patients using EUROCRAN index and to check whether there are any factors associated with the treatment outcome. It is a retrospective cross sectional study. Dental models were collected from archives of two cleft referral centers in Pakistan. Five blinded examiners scored 101 models twice at two week interval. The primary outcome was mean EUROCRAN scores based on dental arch relationships and palatal surface morphology. A mean(SD) score of 2.72 (0.76) and 2.20 (0.73) was determined based on dental arch relationships and palatal surface morphology, respectively. According to the final logistic regression model, modified Millard technique (cheiloplasty) and Veau-Wardill-Kilners' method (palatoplasty) had higher odds of producing unfavorable treatment outcome. Present study determined a fair and a fair to poor treatment outcome based on dental arch relationships and palatal surface morphology, respectively. Our study suggests a significant association between treatment outcome and primary surgical techniques for lip and palate. These findings could warrant a modification of management protocols to ensure improvement in future cleft outcomes. Copyright © 2017 Elsevier B.V. All rights reserved.

FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish

PubMed Central

Ghassibe-Sabbagh, Michella; Desmyter, Laurence; Langenberg, Tobias; Claes, Filip; Boute, Odile; Bayet, Bénédicte; Pellerin, Philippe; Hermans, Karlien; Backx, Liesbeth; Mansilla, Maria Adela; Imoehl, Sandra; Nowak, Stefanie; Ludwig, Kerstin U.; Baluardo, Carlotta; Ferrian, Melissa; Mossey, Peter A.; Noethen, Markus; Dewerchin, Mieke; François, Geneviève; Revencu, Nicole; Vanwijck, Romain; Hecht, Jacqueline; Mangold, Elisabeth; Murray, Jeffrey; Rubini, Michele; Vermeesch, Joris R.; Poirel, Hélène A.; Carmeliet, Peter; Vikkula, Miikka

2011-01-01

Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, including cleft lip and palate. Clefts are the most common congenital craniofacial defects. Patients have complications with feeding, speech, hearing, and dental and psychological development. Affected by both genetic predisposition and environmental factors, the complex etiology of clefts remains largely unknown. Here we show that Fas-associated factor-1 (FAF1) is disrupted and that its expression is decreased in a Pierre Robin family with an inherited translocation. Furthermore, the locus is strongly associated with cleft palate and shows an increased relative risk. Expression studies show that faf1 is highly expressed in zebrafish cartilages during embryogenesis. Knockdown of zebrafish faf1 leads to pharyngeal cartilage defects and jaw abnormality as a result of a failure of CNC to differentiate into and express cartilage-specific markers, such as sox9a and col2a1. Administration of faf1 mRNA rescues this phenotype. Our findings therefore identify FAF1 as a regulator of CNC differentiation and show that it predisposes humans to cleft palate and is necessary for lower jaw development in zebrafish. PMID:21295280

Neonatal Presentation of an Air-Filled Neck Mass that Enlarges with Valsalva: A Case Report

PubMed Central

Patel, Jasminkumar Bharatbhai; Kilbride, Howard; Paulson, Lorien

2015-01-01

Branchial cleft cysts are common causes of congenital neck masses in the pediatric population. However, neonatal presentation of branchial cleft cysts is uncommon, but recognizable secondary to acute respiratory distress from airway compression or complications secondary to infection. We report a 1-day-old infant presenting with an air-filled neck mass that enlarged with Valsalva and was not associated with respiratory distress. The infant was found to have a third branchial cleft cyst with an internal opening into the pyriform sinus. The cyst was conservatively managed with endoscopic surgical decompression and cauterization of the tract and opening. We review the embryology of branchial cleft cysts and current management. PMID:26495186

Learning to Rank the Severity of Unrepaired Cleft Lip Nasal Deformity on 3D Mesh Data.

PubMed

Wu, Jia; Tse, Raymond; Shapiro, Linda G

2014-08-01

Cleft lip is a birth defect that results in deformity of the upper lip and nose. Its severity is widely variable and the results of treatment are influenced by the initial deformity. Objective assessment of severity would help to guide prognosis and treatment. However, most assessments are subjective. The purpose of this study is to develop and test quantitative computer-based methods of measuring cleft lip severity. In this paper, a grid-patch based measurement of symmetry is introduced, with which a computer program learns to rank the severity of cleft lip on 3D meshes of human infant faces. Three computer-based methods to define the midfacial reference plane were compared to two manual methods. Four different symmetry features were calculated based upon these reference planes, and evaluated. The result shows that the rankings predicted by the proposed features were highly correlated with the ranking orders provided by experts that were used as the ground truth.

Assessing the association between hypoxia during craniofacial development and oral clefts.

PubMed

Küchler, Erika Calvano; Silva, Lea Assed da; Nelson-Filho, Paulo; Sabóia, Ticiana M; Rentschler, Angela M; Granjeiro, José Mauro; Oliveira, Driely; Tannure, Patricia N; Silva, Raquel Assed da; Antunes, Leonardo Santos; Tsang, Michael; Vieira, Alexandre R

2018-01-01

Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts. The association between the genetic polymorphisms rs2301113 and rs2057482 in HIF-1A with oral clefts was tested. We used real time PCR genotyping approach. ANOVA with Tukey's post-test was used to compare means. The transmission/disequilibrium test was used to analyze the distortion of the inheritance of alleles from parents to their affected offspring. Results For the hypoxic animal model, the anterior portion of the ethmoid plate presented a gap in the anterior edge, forming a cleft. The hypoxia level was associated with the severity of the phenotype (p<0.0001). For the families, there was no under-transmitted allele among the affected progeny (p>0.05). Conclusion Hypoxia is involved in the oral cleft etiology, however, polymorphisms in HIF-1A are not associated with oral clefts in humans.

Assessing the association between hypoxia during craniofacial development and oral clefts

PubMed Central

Rentschler, Angela M.; Oliveira, Driely; da Silva, Raquel Assed; Antunes, Leonardo Santos

2018-01-01

Abstract Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts. The association between the genetic polymorphisms rs2301113 and rs2057482 in HIF-1A with oral clefts was tested. We used real time PCR genotyping approach. ANOVA with Tukey's post-test was used to compare means. The transmission/disequilibrium test was used to analyze the distortion of the inheritance of alleles from parents to their affected offspring. Results For the hypoxic animal model, the anterior portion of the ethmoid plate presented a gap in the anterior edge, forming a cleft. The hypoxia level was associated with the severity of the phenotype (p<0.0001). For the families, there was no under-transmitted allele among the affected progeny (p>0.05). Conclusion Hypoxia is involved in the oral cleft etiology, however, polymorphisms in HIF-1A are not associated with oral clefts in humans. PMID:29791568

Measuring Symmetry in Children With Unrepaired Cleft Lip: Defining a Standard for the Three-Dimensional Midfacial Reference Plane.

PubMed

Wu, Jia; Heike, Carrie; Birgfeld, Craig; Evans, Kelly; Maga, Murat; Morrison, Clinton; Saltzman, Babette; Shapiro, Linda; Tse, Raymond

2016-11-01

  Quantitative measures of facial form to evaluate treatment outcomes for cleft lip (CL) are currently limited. Computer-based analysis of three-dimensional (3D) images provides an opportunity for efficient and objective analysis. The purpose of this study was to define a computer-based standard of identifying the 3D midfacial reference plane of the face in children with unrepaired cleft lip for measurement of facial symmetry.   The 3D images of 50 subjects (35 with unilateral CL, 10 with bilateral CL, five controls) were included in this study.   Five methods of defining a midfacial plane were applied to each image, including two human-based (Direct Placement, Manual Landmark) and three computer-based (Mirror, Deformation, Learning) methods.   Six blinded raters (three cleft surgeons, two craniofacial pediatricians, and one craniofacial researcher) independently ranked and rated the accuracy of the defined planes.   Among computer-based methods, the Deformation method performed significantly better than the others. Although human-based methods performed best, there was no significant difference compared with the Deformation method. The average correlation coefficient among raters was .4; however, it was .7 and .9 when the angular difference between planes was greater than 6° and 8°, respectively.   Raters can agree on the 3D midfacial reference plane in children with unrepaired CL using digital surface mesh. The Deformation method performed best among computer-based methods evaluated and can be considered a useful tool to carry out automated measurements of facial symmetry in children with unrepaired cleft lip.

The financial impact of unrepaired cleft lip and palate in the Philippines.

PubMed

Muntz, Harlan R; Meier, Jeremy D

2013-12-01

There are over 96 million people in the Philippines. Close to 77 thousand persons in this country have orofacial clefting. We estimate nearly 64 thousand are unrepaired. Unemployment and underemployment because of the communication disorders associated with unrepaired clefts will affect family income and hence tax revenues. The purpose of this study is to understand the financial impact of unrepaired cleft lip and/or palate on families and identify how that would translate to the Philippine government in tax revenues. The incidence of orofacial cleft in the Philippines was estimated to be at least 1 in 750 people, with only 16% anticipated to be repaired under current conditions. Assuming a 21% unemployment rate in subjects with untreated clefts, and a tax rate of 6-12.4%, projected lost personal income and federal tax revenue was calculated. In 2012 alone the financial impact on the families may be as much as $US 73-88 million in lost revenue from unemployment and underemployment. This would cost the government between $8.0 and $9.8 million dollars in lost tax revenue. Over a 20 year period at least $US 1.7 billion dollars in family income would be affected costing the government at least $US 194 million in taxes. By appropriately caring for the cleft population tax revenues should increase substantially. The development of the infrastructure for surgical care of this problem would be costly but could be more than offset by revenues. Inattention to surgically correctable causes of communication disorders is not affordable. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Cleft Lip and Palate Repair.

PubMed

Gatti, Gian Luca; Freda, Nicola; Giacomina, Alessandro; Montemagni, Marina; Sisti, Andrea

2017-11-01

Cleft lip and palate is the most frequent congenital craniofacial deformity. In this article, the authors describe their experience with cleft lip and palate repair. Data regarding patients presenting with primary diagnosis of cleft lip and/or palate, between 2009 and 2015, were reviewed. Details including demographics, type of cleft, presence of known risk factors, surgical details, and follow-up visits were collected. Documented complications were reported. Caregivers' satisfaction was assessed with a survey. The survey used to assess satisfaction with cleft-related features was based on the cleft evaluation profile (CEP). In addition, 4 assessors used visual analog scale (VAS) to assess the aesthetic satisfaction. Seven hundred fifty-two patients with primary diagnosis of cleft lip and/or palate underwent surgical correction at "S. Chiara" Hospital, 432 (57.45%) male and 320 (42.55%) female. The most common cleft types in our study were incomplete cleft palate (152 patients) and left unilateral complete cleft lip and palate (152 patients). Associated syndromes were found in 46 patients (6.12%). Cleft lip was repaired using a modified Tennison-Randall technique when the defect was unilateral, whereas a modified Mulliken technique was used for bilateral cleft lip. Cleft palate was repaired using the Bardach technique or Von Langenbeck technique at 5 to 6 months of age. Cleft lip and palate was repaired in several surgical steps. In total, complications were reported in 81 of 752 patients (14.16%). Average fathers' satisfaction score assessed using CEP was 4.5 (lip), 4.8 (nose), 4.7 (teeth), 4.8 (bite), 4.2 (breathing), 4.6 (profile). Average mothers' satisfaction score assessed using CEP was 4.3 (lip), 4.6 (nose), 4.4 (teeth), 4.5 (bite), 4.1 (breathing), 4.4 (profile). Average level of aesthetic satisfaction, assessed using VAS, was 8.7 (fathers), 8.1 (mothers), 7.9 (lay person), and 8.0 (senior cleft surgeon). The multidisciplinary management of children with oral cleft determinated good results, in terms of satisfaction and aesthetic appearance. From our experience, periosteoplasty and lip-adhesion are key surgical techniques.

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries.

PubMed

Klassen, Anne F; Riff, Karen Wy Wong; Longmire, Natasha M; Albert, Asteria; Allen, Gregory C; Aydin, Mustafa Asim; Baker, Stephen B; Cano, Stefan J; Chan, Andrew J; Courtemanche, Douglas J; Dreise, Marieke M; Goldstein, Jesse A; Goodacre, Timothy E E; Harman, Karen E; Munill, Montserrat; Mahony, Aisling O; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S; Vargas, Federico; Forrest, Christopher R

2018-04-16

Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8-29 years of age with cleft lip and/or palate. © 2018 Joule Inc. or its licensors.

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries

PubMed Central

Riff, Karen WY Wong; Longmire, Natasha M.; Albert, Asteria; Allen, Gregory C.; Aydin, Mustafa Asim; Baker, Stephen B.; Cano, Stefan J.; Chan, Andrew J.; Courtemanche, Douglas J.; Dreise, Marieke M.; Goldstein, Jesse A.; Goodacre, Timothy E.E.; Harman, Karen E.; Munill, Montserrat; Mahony, Aisling O.; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L.; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S.; Vargas, Federico; Forrest, Christopher R.

2018-01-01

BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8–29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. RESULTS: Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. INTERPRETATION: The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8–29 years of age with cleft lip and/or palate. PMID:29661814

Assessing Angle's malocclusion among cleft lip and/or palate patients in Jammu.

PubMed

Gupta, Akshay; Gupta, Anur; Bhardwaj, Amit; Vikram, S; Gomathi, Ajeetha; Singh, Karanprakash

2016-04-01

The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. This descriptive study was done among 168 patients with abnormalities of cleft lip and/or palate. Angle's classification of malocclusion was applied for assessment of occlusion as Class I, Class II, and Class III. The types of oral clefts classification such as cleft lip unilateral and cleft lip bilateral, cleft palate (CP), unilateral cleft lip with palate (UCLP) and bilateral cleft lip with palate (BCLP) was considered. Chi-square test was applied to analyze the data at P < 0.05. The study showed different categories of clefts patients as cleft lip (81), CP (31), and both cleft lip and palate (53). The occurrence of unilateral cleft lip (44) was maximum among the sample followed by UCLP (39), and bilateral cleft lip (31). Maximum subjects with Class II (10.7%) and Class III (4.9%) malocclusion were seen with unilateral cleft lip deformities. None of the patients with UCLP had Class III malocclusion. Cleft lip was the most commonly observed deformity and high frequency of Class II and III malocclusion was evident. Therefore, patients with such abnormalities should be screened timely.

[Clinical-epidemiological study in children with cleft lip palate in a secondary-level hospital].

PubMed

Pons-Bonals, Alicia; Pons-Bonals, Leticia; Hidalgo-Martínez, Sandra Margarita; Sosa-Ferreyra, Carlos Francisco

One of the most common congenital disorders that affects the facial structures is the cleft lip palate (CLP). The aim of this study was to generate the clinical-epidemiological profile of CLP patients from Hospital de Especialidades del Niño y la Mujer (HENM) Dr. Felipe Nuñez Lara, from the Ministry of Health, Queretaro, Mexico, from 2011 to 2014, who received treatment from the Cleft Lip Palate Clinic in order to provide interdisciplinary treatments for CLP patients based on the information from the pediatric records. Retrospective, cross-sectional, observational study using univariate analysis frequencies for qualitative variables; central statistical and dispersion for quantitative variables and clinical profile. One hundred records were reviewed, from which 15 were discarded for being syndromic cases. Epidemiological, clinical, and socio-demographic variables were studied. The epidemiological profile (variables associated with mother's pregnancy, patient's health at birth, nutritional and psychomotor development; family medical records, addictions, and socioeconomic factors) and clinical profile (disease classification by sex, structure, and side; surgeries classification and order in which they took place) of the treated population were registered. The results showed the need to standardize the data registration on medical records to improve the monitoring and treatment of patients and emphasize actions to maintain low incidence of CLP in Queretaro. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Unusual extension of the first branchial cleft anomaly.

PubMed

Ada, Mehmet; Korkut, Nazim; Güvenç, M Güven; Acioğlu, Engin; Yilmaz, Süleyman; Cevikbaş, Uğur

2006-03-01

First branchial cleft is the only branchial structure that persists as the external ear canal, while all other clefts are resorbed. Incomplete obliteration and the degree of closure cause the varied types of first branchial cleft anomalies. They were classified based on the anatomical and histological features. We present an unusual type of first branchial cleft anomaly involving the external auditory canal, the middle ear and the nasopharynx through the eustachian tube.

Scalable, sustainable cost-effective surgical care: a model for safety and quality in the developing world, part III: impact and sustainability.

PubMed

Campbell, Alex; Restrepo, Carolina; Mackay, Don; Sherman, Randy; Varma, Ajit; Ayala, Ruben; Sarma, Hiteswar; Deshpande, Gaurav; Magee, William

2014-09-01

The Guwahati Comprehensive Cleft Care Center (GCCCC) utilizes a high-volume, subspecialized institution to provide safe, quality, and comprehensive and cost-effective surgical care to a highly vulnerable patient population. The GCCCC utilized a diagonal model of surgical care delivery, with vertical inputs of mission-based care transitioning to investments in infrastructure and human capital to create a sustainable, local care delivery system. Over the first 2.5 years of service (May 2011-November 2013), the GCCCC made significant advances in numerous areas. Progress was meticulously documented to evaluate performance and provide transparency to stakeholders including donors, government officials, medical oversight bodies, employees, and patients. During this time period, the GCCCC provided free operations to 7,034 patients, with improved safety, outcomes, and multidisciplinary services while dramatically decreasing costs and increasing investments in the local community. The center has become a regional referral cleft center, and governments of surrounding states have contracted the GCCCC to provide care for their citizens with cleft lip and cleft palate. Additional regional and global impact is anticipated through continued investments into education and training, comprehensive services, and research and outcomes. The success of this public private partnership demonstrates the value of this model of surgical care in the developing world, and offers a blueprint for reproduction. The GCCCC experience has been consistent with previous studies demonstrating a positive volume-outcomes relationship, and provides evidence for the value of the specialty hospital model for surgical delivery in the developing world.

Maternal dietary intake of nitrates, nitrites and nitrosamines and selected birth defects in offspring: a case-control study

PubMed Central

2013-01-01

Background Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. Methods For this population-based case–control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (> 30% of calories from fat), and state of residence. Results While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR] <1.12). Similar results were found for OCs and LDs with the exception of animal nitrites and cleft lip with/without cleft palate (aORs and CIs for quartile 4 compared to quartile 1 =1.24; CI=1.05-1.48), animal nitrites and cleft lip (4th quartile aOR=1.32; CI=1.01-1.72), and total nitrite and intercalary LD (4th quartile aOR=4.70; CI=1.23-17.93). Conclusions Overall, odds of NTDs, OCs or LDs did not appear to be significantly associated with estimated dietary intake of nitrate, nitrite, and nitrosamines. PMID:23514444

Maternal dietary intake of nitrates, nitrites and nitrosamines and selected birth defects in offspring: a case-control study.

PubMed

Huber, John C; Brender, Jean D; Zheng, Qi; Sharkey, Joseph R; Vuong, Ann M; Shinde, Mayura U; Griesenbeck, John S; Suarez, Lucina; Langlois, Peter H; Canfield, Mark A; Romitti, Paul A; Weyer, Peter J

2013-03-21

Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. For this population-based case-control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (>30% of calories from fat), and state of residence. While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR]<1.12). Similar results were found for OCs and LDs with the exception of animal nitrites and cleft lip with/without cleft palate (aORs and CIs for quartile 4 compared to quartile 1 =1.24; CI=1.05-1.48), animal nitrites and cleft lip (4th quartile aOR=1.32; CI=1.01-1.72), and total nitrite and intercalary LD (4th quartile aOR=4.70; CI=1.23-17.93). Overall, odds of NTDs, OCs or LDs did not appear to be significantly associated with estimated dietary intake of nitrate, nitrite, and nitrosamines.

A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology

PubMed Central

Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

2015-01-01

Structured Abstract Objectives We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. Setting and Sample Population This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Materials and Methods Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. Results We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Conclusions Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. PMID:26567851

Evaluation of 5-year-old children with complete cleft lip and palate: Multicenter study. Part 1: Lip and nose aesthetic results.

PubMed

Dissaux, Caroline; Bodin, Frédéric; Grollemund, Bruno; Picard, Arnaud; Vazquez, Marie-Paule; Morand, Béatrice; James, Isabelle; Kauffmann, Isabelle; Bruant-Rodier, Catherine

2015-12-01

Cleft surgery is marked by all the controversies and the multiplication of protocols, as it has been shown by the Eurocleft study. The objective of this pilot study is to start a comparison and analyzing procedure between primary surgical protocols in French centers. Four French centers with different primary surgical protocols for cleft lip and palate repair, have accepted to be involved in this retrospective study. In each center, 20 consecutive patients with complete cleft lip and palate (10 UCLP and 10 BCLP per center), non syndromic, have been evaluated at a mean age of 5 [4,6]. In this first part, the aesthetic results of nose and lip repair were assessed based on the scale established by Mortier et al. (1997). Considering nose outcome, primary cleft repair surgery including a nasal dissection gives a statistically significant benefit in terms of septum deviation. Considering lip result, muscular dehiscence rate is significantly higher in BCLP patients with a two-stage lip closure. The centers using Millard one-stage lip closure do not have uniform results. For UCLP patients, the quality of scar is not statistically different between Skoog and Millard techniques. Primary results based on a simple, reproducible evaluation protocol. Extension to other centers required. Therapeutic study. Level III/retrospective multicenter comparative study. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Application of the International Classification of Functioning, Disability, and Health-Children and Youth Version (ICF-CY) to cleft lip and palate.

PubMed

Neumann, Sandra; Romonath, Roswitha

2012-05-01

In recent health policy discussions, the World Health Organization has urged member states to implement the International Classification of Functioning, Disability, and Health: Children and Youth Version in their clinical practice and research. The purpose of this study was to identify codes from the International Classification of Functioning, Disability, and Health: Children and Youth Version relevant for use among children with cleft lip and/or palate, thereby highlighting the potential value of these codes for interprofessional cleft palate-craniofacial teams. The scope of recent published research in the area of cleft lip and/or palate was reviewed and compared with meaningful terms identified from the International Classification of Functioning, Disability, and Health: Children and Youth Version. In a five-step procedure, a consensus-based list of terms was developed that was linked separately to International Classification of Functioning, Disability, and Health: Children and Youth Version categories and codes. This provided a first draft of a core set for use in the cleft lip and/or palate field. Adopting International Classification of Functioning, Disability, and Health: Children and Youth Version domains in cleft lip and/or palate may aid experts in identifying appropriate starting points for assessment, counseling, and therapy. When used as a clinical tool, it encourages health care professionals to go beyond treatment and outcome perspectives that are focused solely on the child and to include the children's environment and their familial/societal context. In order to establish improved, evidence-based interdisciplinary treatments for children with cleft lip and/or palate, more studies are needed that seek to identify all the influencing conditions of activities, children's participation, and barriers/facilitators in their environments.

Current Training and Continuing Education Needs of Preschool and School-Based Speech-Language Pathologists regarding Children with Cleft Lip/Palate

ERIC Educational Resources Information Center

Bedwinek, Anne P.; Kummer, Ann W.; Rice, Gale B.; Grames, Lynn Marty

2010-01-01

Purpose: The purpose of this study was to obtain information regarding the education and experience of preschool and school-based speech-language pathologists (SLPs) regarding the assessment and treatment of children born with cleft lip and/or palate and to determine their continuing education needs in this area. Method: A 16-item mixed-methods…

Does the Recording Medium Influence Phonetic Transcription of Cleft Palate Speech?

ERIC Educational Resources Information Center

Klintö, Kristina; Lohmander, Anette

2017-01-01

Background: In recent years, analyses of cleft palate speech based on phonetic transcriptions have become common. However, the results vary considerably among different studies. It cannot be excluded that differences in assessment methodology, including the recording medium, influence the results. Aims: To compare phonetic transcriptions from…

Common dental anomalies in cleft lip and palate patients.

PubMed

Haque, Sanjida; Alam, Mohammad Khursheed

2015-01-01

Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

Prevalence of dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate.

PubMed

Rullo, R; Festa, V M; Rullo, R; Addabbo, F; Chiodini, P; Vitale, M; Perillo, L

2015-09-01

To examine the prevalence of different types of dental anomalies in children with nonsyndromic cleft lip, unilateral cleft lip-palate, and bilateral cleft lip-palate. A sample of 90 patients (aged 4-20 years) affected by isolated cleft lip, unilateral and bilateral cleft lip and palate was examined. Cleft patients were classified into one of three groups according to cleft type: (1) Unilateral Cleft Lip-Palate, (2) Bilateral Cleft Lip-Palate, and (3) Cleft Lip. Intraoral exams, panoramic radiographs and dental casts, were used to analyse the prevalence of the various dental anomalies included in this study. There were no statistically significant differences between patients with cleft lip, unilateral cleft lip and palate and bilateral cleft lip and palate. The congenital absence of the cleft-side lateral incisor was observed in 40% of the sample, and a total of 30% patients showed supernumerary teeth at the incisors region. Second premolar agenesis was found in 4.4% of patients, whereas in 18.9% of the sample there was an ectopic dental eruption. Lateral or central incisors rotation was noted in 31.1% of the sample, while shape anomaly, lateral incisor microdontia, and enamel hypoplasia were detected respectively in 25.6%, 5.6% and 18.9% of cleft patients. High prevalence of different dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate has been confirmed. This study, in particular, shows the presence of ectopic and rotated teeth in the cleft area.

Injection and adhesion palatoplasty: a preliminary study in a canine model.

PubMed

Martínez-Álvarez, Concepción; González-Meli, Beatriz; Berenguer-Froehner, Beatriz; Paradas-Lara, Irene; López-Gordillo, Yamila; Rodríguez-Bobada, Cruz; González, Pablo; Chamorro, Manuel; Arias, Pablo; Hilborn, Jöns; Casado-Gómez, Inmaculada; Martínez-Sanz, Elena

2013-08-01

Raising mucoperiosteal flaps in traditional palatoplasty impairs mid-facial growth. Hyaluronic acid-based hydrogels have been successfully tested for minimally invasive craniofacial bone generation in vivo as carriers of bone morphogenetic protein-2 (BMP-2). We aimed to develop a novel flapless technique for cleft palate repair by injecting a BMP-2 containing hydrogel. Dog pups with congenital cleft palate were either non-treated (n=4) or treated with two-flap palatoplasty (n=6) or with the proposed injection/adhesion technique (n=5). The experimental approach was to inject a hyaluronic acid-based hydrogel containing hydroxyapatite and BMP-2 subperiosteally at the cleft palate margins of pups aged six weeks. At week ten, a thin strip of the medial edge mucosa was removed and the margins were closed directly. Occlusal photographs and computed tomography (CT) scans were obtained up to week 20. Four weeks after the gel injection the cleft palate margins had reached the midline and engineered bone had enlarged the palatal bones. Removal of the medial edge mucosa and suturing allowed complete closure of the cleft. Compared to traditional palatoplasty, the injection/adhesion technique was easier, and the post-surgical recovery was faster. CT on week 20 revealed some overlapping or "bending" of palatal shelves in the two-flap repair group, which was not observed in the experimental nor control groups. A minimally invasive technique for cleft palate repair upon injectable scaffolds in a dog model of congenital cleft palate is feasible. Results suggest better growth of palatal bones. This represents an attractive clinical alternative to traditional palatoplasty for cleft palate patients. Copyright © 2013 Elsevier Inc. All rights reserved.

Does the visibility of a congenital anomaly affect maternal-infant attachment levels?

PubMed

Boztepe, Handan; Ay, Ayşe; Kerimoğlu Yıldız, Gizem; Çınar, Sevil

2016-10-01

To determine whether congenital anomaly visibility affects maternal-infant attachment levels. The study population consisted of mothers who had infants with cleft lip/palate or congenital heart anomalies who were receiving treatment in a university hospital. The data were collected using the Structured Questionnaire Form and the Maternal Attachment Inventory. Statistically significant differences in maternal-infant attachment levels were observed between infants with cleft lips/palates and healthy infants and between infants with congenital heart anomalies and healthy infants. It is important to apply appropriate nursing interventions for these mothers during the postpartum period. © 2016, Wiley Periodicals, Inc.

A lining vomer flap for palate pushback in unilateral cleft palate repair.

PubMed

Clavin, H D; Owsley, J Q

1978-01-01

A combinaation vomer mucoperiosteal flap and nasal floor mucoperiosteal flap is described which is used to achieve nasal coverage in unilateral cleft palate patients requiring pushbacks. A posteriorly based readily accessible vomer flap is raised on the cleft side and used as nasal lining for the palatal mucoperiosteal flap on the non-cleft side. On the cleft side, a symmetrically sized nasal floor flap is easily elevated under direct vision and used to cover the nasal aspect of the corresponding mucoperiosteal palatal flap.

Dermatoglyphics and Cheiloscopy as Key Tools in Resolving the Genetic Correlation of Inheritance Patterns in Cleft Lip and Palate Patients: An Assessment of 160 Patients.

PubMed

Singh, Priyankar; Nathani, Dipesh B

2017-09-01

  The objective of this study was to correlate dermatoglyphics and cheiloscopy with genetic inheritance in cleft lip and cleft palate patients.   This was a case-control study to look for asymmetry in finger and lip print patterns. All of the participants were divided into two equal groups (40 mothers and 40 fathers in each group). The data were analyzed by three evaluators who were blind to the study to avoid any chances of error.   A sample of 160 sporadic participants were identified and evaluated. Group A was composed of 80 healthy parents not affected by cleft lip and cleft palate but had at least one child born with nonsyndromic cleft. Group B consisted of 80 healthy parents not affected by cleft lip and cleft palate and had healthy children without cleft lip and cleft palate.   Main outcome measures were marked dermatoglyphic asymmetry and specific lip print pattern in the study group.   We found marked asymmetry in various fingerprints and specific type II and type III lip print in the study group when compared with the control group. It was observed that groove count on the lip was significantly more frequent in study group parents.   Our study determined that there is a significant correlation between increased dermatoglyphic asymmetry and specific type II and type III lip print pattern in parents of children born with cleft. This could act as an important screening marker for the prediction of cleft lip and cleft palate inheritance.

Characterization of the IMF By-dependent field-aligned currents in the cleft region based on DE 2 observations

NASA Technical Reports Server (NTRS)

Taguchi, S.; Sugiura, M.; Winningham, J. D.; Slavin, J. A.

1993-01-01

The magnetic field and plasma data from 47 passes of DE-2 are used to study the IMF By-dependent distribution of field-aligned currents in the cleft region. It is proposed that the low-latitude cleft current (LCC) region is not an extension of the region 1 or region 2 current system and that a pair of LCCs and high-latitude cleft currents (HCCs) constitutes the cleft field-aligned current regime. The proposed pair of cleft field-aligned currents is explained with a qualitative model in which this pair of currents is generated on open field lines that have just been reconnected on the dayside magnetopause. The electric fields are transmitted along the field lines to the ionosphere, creating a poleward electric field and a pair of field-aligned currents when By is positive; the pair of field-aligned currents consists of a downward current at lower latitudes and an upward current at higher latitudes. In the By negative case, the model explains the reversal of the field-aligned current direction in the LCC and HCC regions.

Early Cleft Lip Repair Revisited: A Safe and Effective Approach Utilizing a Multidisciplinary Protocol

PubMed Central

Imahiyerobo, Thomas A.; Liang, Fan; Fahradyan, Artur; Urbinelli, Leo; Lau, Jennifer; Matar, Marla; Magee, William; Urata, Mark

2017-01-01

Background: The optimal timing for cleft lip repair has yet to be established. Advances in neonatal anesthesia, along with a growing body of literature, suggesting benefits of earlier cleft lip and nasal repair, have set the stage for a reexamination of current practices. Methods: In this prospective study, cleft lip and nasal repair occurred on average at 34.8 days (13–69 days). Nasal correction was achieved primarily through molding the nasal cartilage without the placement of nasal sutures at the time of repair. A standardized anesthetic protocol aimed at limiting neurotoxicity was utilized in all cases. Anesthetic and postoperative complications were assessed. A 3-dimensional nasal analysis compared pre- and postoperative nasal symmetry for unilateral clefts. Surveys assessed familial response to repair. Results: Thirty-two patients were included (27 unilateral and 5 bilateral clefts). In this study, the overall complication rate was 3.1%. Anthropometric measurements taken from 3-dimensional-image models showed statistically significant improvement in ratios of nostril height (preoperative mean, 0.59; postoperative mean, 0.80), nasal base width (preoperative mean, 1.96; postoperative mean, 1.12), columella length (preoperative mean, 0.62; postoperative mean, 0.89; and columella angle (preoperative mean, 30.73; postoperative mean, 9.1). Survey data indicated that families uniformly preferred earlier repair. Conclusions: We present evidence that early cleft lip and nasal repair can be performed safely and is effective at improving nasal symmetry without the placement of any nasal sutures. Utilization of this protocol has the potential to be a paradigm shift in the treatment of cleft lip and nasal deformity. PMID:28740766

Early Cleft Lip Repair Revisited: A Safe and Effective Approach Utilizing a Multidisciplinary Protocol.

PubMed

Hammoudeh, Jeff A; Imahiyerobo, Thomas A; Liang, Fan; Fahradyan, Artur; Urbinelli, Leo; Lau, Jennifer; Matar, Marla; Magee, William; Urata, Mark

2017-06-01

The optimal timing for cleft lip repair has yet to be established. Advances in neonatal anesthesia, along with a growing body of literature, suggesting benefits of earlier cleft lip and nasal repair, have set the stage for a reexamination of current practices. In this prospective study, cleft lip and nasal repair occurred on average at 34.8 days (13-69 days). Nasal correction was achieved primarily through molding the nasal cartilage without the placement of nasal sutures at the time of repair. A standardized anesthetic protocol aimed at limiting neurotoxicity was utilized in all cases. Anesthetic and postoperative complications were assessed. A 3-dimensional nasal analysis compared pre- and postoperative nasal symmetry for unilateral clefts. Surveys assessed familial response to repair. Thirty-two patients were included (27 unilateral and 5 bilateral clefts). In this study, the overall complication rate was 3.1%. Anthropometric measurements taken from 3-dimensional-image models showed statistically significant improvement in ratios of nostril height (preoperative mean, 0.59; postoperative mean, 0.80), nasal base width (preoperative mean, 1.96; postoperative mean, 1.12), columella length (preoperative mean, 0.62; postoperative mean, 0.89; and columella angle (preoperative mean, 30.73; postoperative mean, 9.1). Survey data indicated that families uniformly preferred earlier repair. We present evidence that early cleft lip and nasal repair can be performed safely and is effective at improving nasal symmetry without the placement of any nasal sutures. Utilization of this protocol has the potential to be a paradigm shift in the treatment of cleft lip and nasal deformity.

Hospital admissions for dental treatment among children with cleft lip and/or palate born between 1997 and 2003: an analysis of Hospital Episode Statistics in England.

PubMed

Fitzsimons, Kate J; Copley, Lynn P; Smallridge, Jacqueline A; Clark, Victoria J; van der Meulen, Jan H; Deacon, Scott A

2014-05-01

Children with clefts have an increased tendency for dental anomalies and caries. To determine the pattern of hospital admissions for dental treatment during primary dentition among children with clefts. Cohort study based on Hospital Episode Statistics, an administrative database of all admissions to National Health Service hospitals in England. Patients born alive between 1997 and 2003 who had both a cleft diagnosis and cleft repair were included. The number of hospital admissions for surgical removal of teeth, simple extraction of teeth, and restoration of teeth before the age of seven was examined. Eight hundred and fifty-eight hospital admissions for dental treatment among 6551 children (<7 year) with a cleft were identified. 66.4% of admissions were primarily for caries and 95.6% involved extractions. 11.4% of children had at least one admission for dental treatment. The presence of additional anomalies, having a more severe cleft type, and living in relatively deprived areas increased the risk of hospital admission. Factors increasing the risk of hospital admission among cleft children should be taken into account when planning services. Efforts to reduce the number of hospital admissions should be focused on disease prevention, particularly among those most at risk of caries. © 2013 BSPD, IAPD and John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Clival Malformations in CHARGE Syndrome.

PubMed

Mahdi, E S; Whitehead, M T

2018-06-01

CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome. In this retrospective study, the CT/MR imaging data base at a single academic children's hospital was queried for the phrase "CHARGE syndrome" during a 17-year period (2001-2017). Electronic medical records were reviewed to confirm the diagnosis. Images were assessed for skull base anomalies, specifically clival hypoplasia and dysplasia. The search yielded 42 examinations (21 CTs and 21 MRIs) from 15 distinct patients (mean age, 4.1 ± 5.6 years; range, 2 days to 19 years). CHARGE syndrome diagnosis was confirmed either by clinical and genetic testing ( n = 6) or by clinical diagnosis only ( n = 9). A coronal clival cleft was identified in 87% of patients (37 examinations, n = 13 patients), either partial (53%) or complete (33%). Clival hypoplasia without clefting was present in all 5 examinations from the remaining 2 patients. Clival pathology is universal in CHARGE syndrome. Coronal clival clefts are extremely common, representing a useful additional diagnostic finding. Detection of a clival cleft should alert the radiologist to examine the palate, choana, eyes, ears, and olfactory centers for other signs of CHARGE syndrome. © 2018 by American Journal of Neuroradiology.

Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shiang, R.; Lidral, A.C.; Ardinger, H.H.

1993-10-01

Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. The authors carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3[prime] untranslated region ofmore » the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using X[sup 2] analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3[prime] untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P. 46 refs., 3 figs., 3 tabs.« less

Quality of life in patients with cleft lip and palate after operation.

PubMed

Augsornwan, Darawan; Namedang, Sarakull; Pongpagatip, Sumalee; Surakunprapha, Palakorn

2011-12-01

Cleft lip and cleft palate are the most common craniofacial anomalies. Srinagarind Hospital has 150-200 cases each year. The operating process of care, requires continuity of care involving a multidisciplinary team. When the patients go to hospital for an operation they experience pain, limited activity and also food is very different from normal life. When attending school they suffer speech articulation problems and feel shy and isolated, which has a detrimental affect on their life style and quality of life. The main purpose of the study is to the present study quality of life in patients with cleft lip and palate after operation. The present study is descriptive research using qualitative and quantitative approaches. The studied population were patients age 8-18 years old who were admitted at 3C Ward and Outpatient Department, Srinagarind Hospital. 33 patients were interviewed for the quantitative approach. Guideline for in-depth interview with 15 patients were used for the qualitative approach. Quantitative data were analyzed and presented in frequency, percentage and standard deviation. The qualitative data were analyzed through content analysis. Patients consider their QOL is high level, but in detail they still worry about self concept psychological well-being. From indept interview patients would like to get further treatment to minimize their scar as soon as possible. Patients consider their quality of life as high level, but they would like to get further treatment.

Long-Term Speech Results of Cleft Palate Speakers with Marginal Velopharyngeal Competence.

ERIC Educational Resources Information Center

Hardin, Mary A.; And Others

1990-01-01

This study of the longitudinal speech performance of 48 cleft palate speakers with marginal velopharyngeal competence, from age 6 to adolescence, found that the adolescent subjects' velopharyngeal status could be predicted based on 2 variables at age 6: the severity ratings of articulation defectiveness and nasality. (Author/JDD)

Facial Aesthetic Outcomes of Cleft Surgery: Assessment of Discrete Lip and Nose Images Compared with Digital Symmetry Analysis.

PubMed

Deall, Ciara E; Kornmann, Nirvana S S; Bella, Husam; Wallis, Katy L; Hardwicke, Joseph T; Su, Ting-Li; Richard, Bruce M

2016-10-01

High-quality aesthetic outcomes are of paramount importance to children growing up after cleft lip and palate surgery. Establishing a validated and reliable assessment tool for cleft professionals and families will facilitate cleft units, surgeons, techniques, and protocols to be audited and compared with greater confidence. This study used exemplar images across a five-point aesthetic scale, identified in a pilot project, to score lips and noses as separate units and compared these human scores with computer-based SymNose symmetry scores. Forty-five assessors (17 cleft surgeons nationally and 28 other cleft professionals from the UK South West Tri-centre units), scored 25 standardized photographs, uploaded randomly onto a Web-based platform, twice. Each photograph was shown in three forms: lip and nose together, and separately cropped images of nose only and lip only. The same images were analyzed using the SymNose software program. Scoring lips gave the best intrarater and interrater reliabilities. Nose scores were more variable. Lip scoring associated most closely with the whole-image score. SymNose ranking of the lip images related highly to the same ranking by humans (p = 0.001). The exemplar images maintained their established previous ranking. Images illustrating the aesthetic outcome grades are confirmed. The lip score is reliable and seems to dominate in the whole-image score. Noses are much harder to score reliably. It appears that SymNose can score lip images very effectively by symmetry. Further use of SymNose will be investigated, and families of children with cleft will trial the scoring system. Therapeutic, III.

Thymic cyst: a fourth branchial cleft anomaly.

PubMed

Nayan, Smriti; MacLean, Jonathan; Sommer, Doron

2010-01-01

We report a unique case of a fourth branchial cleft cyst found within the thymus of an adult patient. In the literature to date, there have been no reports of such a finding in the adult population. These anomalies can often cause recurrent acute suppurative thyroiditis or recurrent deep neck abscesses. Delay in recognizing the underlying etiology can lead to significant complications.

Clinical characteristics of horses and foals diagnosed with cleft palate in a referral population: 28 cases (1988–2011)

PubMed Central

Shaw, Sarah D.; Norman, Tracy E.; Arnold, Carolyn E.; Coleman, Michelle C.

2015-01-01

The objective of this case series was to characterize the population, case presentations, and outcomes of 28 equids diagnosed with cleft palate over a 25-year period. The incidence of cleft palate was 0.04%. The median age at presentation was 2 mo (range: 1 d to 3 y). Fifty percent of the animals were < 2 mo old, 21% were ≥ 2 mo but < 1 y old, and 29% were 1 y of age or older. Males and females were nearly equally represented. Short-term outcomes included euthanasia in 50%, surgical repair in 11%, supportive care in 4%, and no treatment in 32% of cases; 46% of the animals survived to discharge. Defects involving both the hard and soft palate and/or aspiration pneumonia generally had less favorable outcomes. Though cleft palate is rare in horses, it should be considered as a differential diagnosis in horses of all ages with nasal discharge, a cough, a history of recurrent respiratory infections, poor growth, or chronic submandibular lymphadenopathy. Endoscopic evaluation of the pharynx may aid in earlier diagnosis and prognostication for owners. PMID:26130841

Indoor air pollution and the risk of orofacial clefts in a rural population in Shanxi province, China.

PubMed

Liu, Yingying; Wang, Bin; Li, Zhiwen; Zhang, Le; Liu, Jufen; Ren, Aiguo

2016-08-01

Shanxi Province is a region in China with a high incidence of orofacial clefts (OFCs). Our objective is to investigate the effect of maternal exposure to indoor air pollution (IAP) from coal combustion and tobacco smoke on the risk of an infant being born with orofacial clefts. Data were derived from an ongoing population-based case-control study of major external structural birth defects in Shanxi Province. Subjects included 213 cases with OFCs and 1319 healthy babies born between November 2002 and December 2014 in four rural counties. Exposure information was collected by face-to-face interview with mothers within 1 week of delivery or pregnancy termination. The authors derived an exposure index by integrating a series of IAP-related characteristics concerning dwelling and lifestyle. Increased odds of OFC were associated with IAP exposure from heating (adjusted odds ratio [aOR] = 2.4; 95% confidence interval [CI], 1.2-4.5) and from smoking (aOR = 1.8; 95% CI: 1.3, 2.5), but not with exposure from cooking (aOR = 0.9; 95% CI, 0.6-1.4). Compared with women without IAP exposure, the aORs of OFC for children of women with exposure indices of 1, 2, 3 and ≥ 4 were 1.1 (95% CI, 0.6-1.8), 1.4 (95% CI, 0.8-2.4), 1.8 (95% CI, 1.0-3.2), and 3.4 (95% CI, 1.6-7.4), respectively, demonstrating a clear dose-response trend (p < 0.001). Periconceptional exposure to IAP from coal combustion and tobacco smoking may increase the risk of OFCs in offsprings of women in Shanxi Province. Birth Defects Research (Part A) 106:708-715, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

A functional polymorphism in the pre-miR-146a gene is associated with the risk of nonsyndromic orofacial cleft.

PubMed

Pan, Yongchu; Li, Dandan; Lou, Shu; Zhang, Chi; Du, Yifei; Jiang, Hongbing; Zhang, Weibing; Ma, Lan; Wang, Lin

2018-05-01

microRNAs (miRNAs) are widely involved in craniofacial development, and genetic variants of miRNAs may be associated with the risk of nonsyndromic orofacial cleft (NSOC). Here, we systematically selected five single nucleotide polymorphisms (SNPs) of miRNAs and investigated the associations between these variants and NSOC susceptibility in a two-stage case-control study including 1,406 NSOC patients and 1,578 controls from the Chinese population. We found that compared with the C allele, the rs2910164 G allele of pre-miR-146a was associated with an increased risk of NSOC (additive model: odds ratio [OR] = 1.17, 95% confidence interval [CI]: 1.06-1.30, P = 0.002), including both cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). Bioinformatic prediction and functional assays revealed that the C allele of rs2910164 was significantly associated with inhibited HEK-293 and HEPM cell proliferation and decreased abundance of TRAF6. Both miR-146a and TRAF6 were expressed in the lip tissue samples of NSOC patients, and a moderate inverse correlation was observed between them. Taken together, these results demonstrated that miR-146a/rs2910164 is associated with susceptibility to NSOC, providing novel insights into the genetic etiology and underlying biology of NSOC. © 2018 Wiley Periodicals, Inc.

Comparative Assessment of the Cleft Profile by Patients with Cleft Lip and Palate, Cleft Surgeons, and Lay People.

PubMed

Meng, Tian; Ma, Lian; Wang, Zhi

2015-10-01

This cross-sectional study aimed to compare subjective assessments among patients with cleft lip and palate (CLP), cleft surgeons, and lay people regarding the soft tissue lateral profile of CLP patients. We also investigated the correlations between subjective assessments and photogrammetric measurements. A total of 150 CLP patients who wished to have treatment for their unattractive appearance were randomly selected. A standard lateral profile color photograph was taken. Panels of three cleft surgeons, ten CLP patients, and ten lay people were selected to be assessors. They rated nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile for each photograph. Three angular measurements (nasal prominence angle, nasolabial angle, and lip angle) were measured for each photograph. Kendall's coefficient of concordance and logistic regression were used for statistical analysis. Kendall's coefficient of concordance of nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile were 0.734, 0.683, 0.828, and 0.747, respectively (p < 0.001). Lip angle was associated with the profile scores for cleft surgeons and CLP patients (p < 0.001). The nasal prominence angle and lip angle were associated with the profile scores for lay people (p < 0.001). CLP patients, cleft surgeons, and lay people have similar attitudes to the appearance of CLP patients. Upper and lower lip esthetics is associated with the assessment of the cleft profile that is provided by CLP patients, cleft surgeons, and lay people. In addition, nasal tip projection is another determining factor for lay people. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Dynamic Equilibrium of Cardiac Troponin C's Hydrophobic Cleft and Its Modulation by Ca2+ Sensitizers and a Ca2+ Sensitivity Blunting Phosphomimic, cTnT(T204E).

PubMed

Schlecht, William; Dong, Wen-Ji

2017-10-18

Several studies have suggested that conformational dynamics are important in the regulation of thin filament activation in cardiac troponin C (cTnC); however, little direct evidence has been offered to support these claims. In this study, a dye homodimerization approach is developed and implemented that allows the determination of the dynamic equilibrium between open and closed conformations in cTnC's hydrophobic cleft. Modulation of this equilibrium by Ca 2+ , cardiac troponin I (cTnI), cardiac troponin T (cTnT), Ca 2+ -sensitizers, and a Ca 2+ -desensitizing phosphomimic of cTnT (cTnT(T204E) is characterized. Isolated cTnC contained a small open conformation population in the absence of Ca 2+ that increased significantly upon the addition of saturating levels of Ca 2+ . This suggests that the Ca 2+ -induced activation of thin filament arises from an increase in the probability of hydrophobic cleft opening. The inclusion of cTnI increased the population of open cTnC, and the inclusion of cTnT had the opposite effect. Samples containing Ca 2+ -desensitizing cTnT(T204E) showed a slight but insignificant decrease in open conformation probability compared to samples with cardiac troponin T, wild type [cTnT(wt)], while Ca 2+ sensitizer treated samples generally increased open conformation probability. These findings show that an equilibrium between the open and closed conformations of cTnC's hydrophobic cleft play a significant role in tuning the Ca 2+ sensitivity of the heart.

GENES AS INSTRUMENTS FOR STUDYING RISK BEHAVIOR EFFECTS: AN APPLICATION TO MATERNAL SMOKING AND OROFACIAL CLEFTS

PubMed Central

Jugessur, Astanand; Murray, Jeffrey C.; Moreno, Lina; Wilcox, Allen; Lie, Rolv T.

2011-01-01

This study uses instrumental variable (IV) models with genetic instruments to assess the effects of maternal smoking on the child’s risk of orofacial clefts (OFC), a common birth defect. The study uses genotypic variants in neurotransmitter and detoxification genes relateded to smoking as instruments for cigarette smoking before and during pregnancy. Conditional maximum likelihood and two-stage IV probit models are used to estimate the IV model. The data are from a population-level sample of affected and unaffected children in Norway. The selected genetic instruments generally fit the IV assumptions but may be considered “weak” in predicting cigarette smoking. We find that smoking before and during pregnancy increases OFC risk substantially under the IV model (by about 4–5 times at the sample average smoking rate). This effect is greater than that found with classical analytic models. This may be because the usual models are not able to consider self-selection into smoking based on unobserved confounders, or it may to some degree reflect limitations of the instruments. Inference based on weak-instrument robust confidence bounds is consistent with standard inference. Genetic instruments may provide a valuable approach to estimate the “causal” effects of risk behaviors with genetic-predisposing factors (such as smoking) on health and socioeconomic outcomes. PMID:22102793

Longitudinal treatment of cleft lip and palate in developing countries: dentistry as part of a multidisciplinary endeavor.

PubMed

Lee, Cameron C Y; Jagtap, Rasika R; Deshpande, Gaurav S

2014-09-01

Cleft lip and palate affects roughly 1 in 600 children and predisposes patients to a lifetime of functional and esthetic discrepancies. Disparities in access as well as quality of care exist worldwide, with many children in developing countries unable to receive treatment. In the late 20th century, humanitarian medical missions emerged as a means of delivering surgical expertise to patients in resource-limited settings. These early missions took on a patient-centered approach focused solely on cleft repair, with little emphasis on treating the dental abnormalities that arose after the initial surgery. However, modern cleft care is characterized by a multidisciplinary, team-based approach with significant dental involvement. Recent cleft lip and palate endeavors have shifted from a mission-based approach to a developmental approach facilitating growth of an independent care center. This strategy focuses on creating an institution with expanded access to dental services, thus facilitating the long-term treatment inherent in modern cleft care. One clinic in a developing country that has experienced successful transitioning from a mission site to an independent craniofacial clinic is Operation Smile's Cleft Comprehensive Care Clinic in Guwahati, India. This article will summarize the rationale and planning of the clinic, underscore the team-based approach required in longitudinal treatment of cleft lip and palate, and demonstrate how treatment methodology may differ in resource-limited settings by outlining the therapeutic considerations of each provider in the Guwahati Clinic.

A novel computer system for the evaluation of nasolabial morphology, symmetry and aesthetics after cleft lip and palate treatment. Part 2: Comparative anthropometric analysis of patients with repaired unilateral complete cleft lip and palate and healthy individuals.

PubMed

Pietruski, Piotr; Majak, Marcin; Pawlowska, Elzbieta; Skiba, Adam; Antoszewski, Boguslaw

2017-04-01

The aim of this study was to use a novel system, 'Analyse It Doc' (A.I.D.) for a complex anthropometric analysis of the nasolabial region in patients with repaired unilateral complete cleft lip and palate and in healthy individuals. A set of standardized facial photographs in frontal, lateral and submental view have been taken in 50 non-cleft controls (mean age 20.6 years) and 42 patients with repaired unilateral complete cleft and palate (mean age 19.57 years). Then, based on linear, angular and area measurements taken from the digital photographs with the aid of the A.I.D. system, a photogrammetric analysis of intergroup differences in nasolabial morphology and symmetry was conducted. Patients with cleft lip and palate differed from the controls in terms of more than half of analysed angular measurements and proportion indices derived from linear and area measurements of the nasolabial region. The findings presented herein imply that despite primary surgical repair, patients with unilateral complete cleft lip and palate still show some degree of nasolabial dysmorphology. Furthermore, the study demonstrated that the novel computer system is suitable for a reliable, simple and time-efficient anthropometric analysis in a clinical setting. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

The Correlation between Maternal Exposure to Air Pollution and the Risk of Orofacial Clefts in Infants: a Systematic Review and Meta-Analysis

PubMed Central

Rao, Ajit; Ahmed, Mairaj K.; Taub, Peter J.

2016-01-01

ABSTRACT Objectives The authors performed a systematic review and meta-analysis to investigate the possible correlation between ambient air pollution and orofacial cleft anomalies in newborns. Material and Methods A literature search was performed using the PubMed and Google Scholar, using the keywords “air pollution”, “cleft lip”, “cleft palate”, “carbon monoxide”, “ozone”, “sulfur dioxide”, “nitrogen oxide”, “nitrogen dioxide”, and “aerodynamic diameter”. Eight epidemiologic articles met the criteria of correlating either carbon monoxide (CO), ozone (O3), nitrogen oxides (NOx), airborne particulate matter of less than 10 µm in diameter (PM10), or sulfur dioxide (SO2) exposures with clefting of the palate alone, clefting of the lip alone, or clefting of the lip and palate. Odds ratios were extracted from the eight studies and tabulated in this meta-analysis. Quality analysis showed six high quality, one medium quality, and one low quality study. Results Meta-analysis of the combined data confirmed the association of O3 exposure and risk of orofacial cleft anomalies (OR = 1.08; P = 0.02). NOx was consistently associated with decreased risk of cleft lip with or without palate and cleft palate. Conclusions Ozone showed the strongest correlation with cleft lip and cleft palate anomalies. However, the studies overall showed an inconsistent correlation between orofacial clefts and air pollutants. PMID:27099696

One-stage closure of isolated cleft palate with the Veau-Wardill-Kilner V to Y pushback procedure or the Cronin modification. III. Comparison of lateral craniofacial morphology.

PubMed

Heliövaara, A; Ranta, R

1993-10-01

The craniofacial morphology of 116 consecutive patients with isolated cleft palate was studied by means of lateral cephalograms at 17 to 20 years of age. One-stage hard- and soft-palate closure had been carried out at the mean age of 1.8 years by using the Veau-Wardill-Kilner or the Cronin mucoperiosteal palatal V-Y pushback technique. In the Veau-Wardill-Kilner group the cranial base was longer, the cranial base angle was larger, and the mandible longer and its ramus higher but less backward rotated. The patients with originally the most extensive clefts showed the most marked deviations in craniofacial morphology at adult age.

Repair of bilateral cleft lip and its variants

PubMed Central

Mulliken, John B.

2009-01-01

The surgeon who lifts a scalpel to repair a bilateral cleft lip and nasal deformity is accountable for: 1) precise craftsmanship based on three-dimensional features and four-dimensional changes; 2) periodic assessment throughout the child's growth; and 3) technical modifications during primary closure based on knowledge gained from long-term follow-up evaluation. These children should not have to endure the stares prompted by nasolabial stigmata that result from outdated concepts and technical misadventures. The principles for repair of bilateral complete cleft lip have evolved to such a level that the child's appearance should be equivalent to, or surpass, that of a unilateral complete cleft lip. These same principles also apply to the repair of the variants of bilateral cleft lip, although strategies and execution differ slightly. PMID:19884685

Causal Inferences from Mining ToxCast Data and the Biomedical Literature for Molecular Pathways and Cellular Processes in Cleft Palate (SOT)

EPA Science Inventory

Sixty-five chemicals in the ToxCast high-throughput screening (HTS) dataset have been linked to cleft palate based on data from ToxRefDB (rat or rabbit prenatal developmental toxicity studies) or from literature reports. These compounds are structurally diverse and thus likely to...

"What They Highlight Is...": The Discourse Functions of Basic "Wh"-Clefts in Lectures

ERIC Educational Resources Information Center

Deroey, Katrien L. B.

2012-01-01

This paper reports findings from a study on the discourse functions of basic "wh"-clefts such as "what our brains do is complicated information processing" in 160 lectures drawn from the British Academic Spoken English (BASE) corpus. Like much linguistic research on this academic genre, the investigation is motivated by the…

Cleft-Related Orthognathic Surgery Based on Maxillary Vertical Lengthening of the Anterior Facial Height.

PubMed

Jeong, Woo Shik; Jeong, Hyung Hwa; Kwon, Soon Man; Koh, Kyung S; Choi, Jong Woo

2018-03-01

The conventional approach during orthognathic surgery for cleft-related deformities has focused largely on restoration of maxilla retrusion, using the maxillary advancement as a standard treatment objective. However, the authors thought that maxillary vertical shortening and deficient incisor show could be additional key elements of cleft-related deformities. Although slight vertical lengthening can be obtained with only maxillary advancement, it would not be enough to obtain satisfactory aesthetic results in terms of the anterior facial height. The authors hypothesized that vertical deficiency and anteroposterior maxillary retrusion exists in cleft-related deformities. Therefore, orthognathic surgery including intentional vertical lengthening and advancement would be better than the conventional simple advancement. A new approach was used to treat consecutive patients with dentofacial deformities between December of 2007 and December of 2016. Patients with cleft-related dentofacial deformities were included in the study. Forty-one patients with cleft-related dentofacial deformities were included. The distance from the nasion to the incisor tip was 76.70 mm; the angle of the lines connecting the sella, nasion, and point A was 74.03 degrees; and the incisor show was 1.02 mm. Corresponding measurements in 40 patients without clefts were 81.57 mm, 80.08 degrees, and 3.38 mm, respectively. Postoperatively, the average vertical lengthening achieved was 0.88 mm in the simple maxillary advancement group and 7.65 mm in the intentional vertical lengthening accompanied by maxillary advancement group. The authors' results suggest that simultaneous maxillary vertical lengthening with horizontal advancement is a viable approach to orthognathic surgery for cleft-related deformities, given the long-term stability of outcomes demonstrated in this study. Therapeutic, III.

Lip prints and inheritance of cleft lip and cleft palate.

PubMed

Cj, Manasa Ravath; Hc, Girish; Murgod, Sanjay; Hegde, Ramesh B; Jk, Savita

2014-07-01

Labial mucosa has elevations and depressions forming a pattern called 'Lip Prints'. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. A new whorl pattern was present in the study group. The groove count was higher in the fathers' than in the mothers' prints in the upper lip and vice versa in the lower lip. The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies.

Lip Prints and Inheritance of Cleft Lip and Cleft Palate

PubMed Central

CJ, Manasa Ravath; HC, Girish; Hegde, Ramesh B; JK, Savita

2014-01-01

Background: Labial mucosa has elevations and depressions forming a pattern called ‘Lip Prints’. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Objectives: Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. Methodology: The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. Results: A new whorl pattern was present in the study group. The groove count was higher in the fathers’ than in the mothers’ prints in the upper lip and vice versa in the lower lip. Conclusion: The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies. PMID:25177633

Clinical Study of Second Branchial Cleft Anomalies.

PubMed

Lee, Dong Hoon; Yoon, Tae Mi; Lee, Joon Kyoo; Lim, Sang Chul

2018-03-30

The objective of this study was to review the clinical characteristics and surgical treatment outcomes of second branchial cleft anomalies, and to evaluate the usefulness and accuracy of preoperative fine-needle aspiration cytology (FNAC) in the diagnosis of branchial cleft cysts. A retrospective chart review was performed at Chonnam National University Hwasun Hospital from January 2010 to December 2016. Among 25 patients with second branchial cleft anomalies, in 23 patients (92.0%), these anomalies presented as cysts, and in the remaining 2 patients (8.0%), these anomalies presented as fistulas. Fine-needle aspiration cytology had a diagnostic sensitivity of 100%, a positive-predictive value of 100%, and accuracy of 100% for diagnosing second branchial cleft cyst. All patients of second branchial cleft anomalies were treated surgically under general anesthesia. No recurrence of second branchial cleft anomalies was observed. Branchial cleft cysts were the most common type of second branchial cleft anomalies. Preoperative FNAC is a useful and accurate method for preoperative evaluation of branchial cleft cysts. Surgical excision of second branchial cleft anomalies is the treatment of choice without any complications and with no recurrence.

SISL (ScreeningsInstrument Schisis Leuven): assessment of cleft palate speech, resonance and myofunction.

PubMed

Breuls, M; Sell, D; Manders, E; Boulet, E; Vander Poorten, V

2006-01-01

This paper presents an assessment protocol for the evaluation and description of speech, resonance and myofunctional characteristics commonly associated with cleft palate and/or velopharyngeal dysfunction. The protocol is partly based on the GOS.SP.ASS'98 and adapted to Flemish. It focuses on the relevant aspects of cleft type speech necessary to facilitate assessment, adequate diagnosis and management planning in a multi-disciplinary setting of cleft team care.

[Cleft lip, alveolar and palate sequelae. Proposal of new alveolar score by the Alveolar Cleft Score (ACS) classification].

PubMed

Molé, C; Simon, E

2015-06-01

The management of cleft lip, alveolar and palate sequelae remains problematic today. To optimize it, we tried to establish a new clinical index for diagnostic and prognostic purposes. Seven tissue indicators, that we consider to be important in the management of alveolar sequelae, are listed by assigning them individual scores. The final score, obtained by adding together the individual scores, can take a low, high or maximum value. We propose a new classification (ACS: Alveolar Cleft Score) that guides the therapeutic team to a prognosis approach, in terms of the recommended surgical and prosthetic reconstruction, the type of medical care required, and the preventive and supportive therapy to establish. Current studies are often only based on a standard radiological evaluation of the alveolar bone height at the cleft site. However, the gingival, the osseous and the cellular areas bordering the alveolar cleft sequelae induce many clinical parameters, which should be reflected in the morphological diagnosis, to better direct the surgical indications and the future prosthetic requirements, and to best maintain successful long term aesthetic and functional results. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Single-Stage Primary Cleft Lip and Palate Repair: A Review of the Literature.

PubMed

Kantar, Rami S; Rifkin, William J; Cammarata, Michael J; Maliha, Samantha G; Diaz-Siso, J Rodrigo; Farber, Scott J; Flores, Roberto L

2018-06-26

Single-stage cleft lip and palate repair is a debated surgical approach. While some studies have described favorable outcomes, concerns include the effect on craniomaxillofacial growth and increased risk of complications. To this date, there has not been a comprehensive appraisal of available data following combined cleft lip and palate repair. An extensive literature review was performed to identify all relevant articles. The level of evidence of these articles was graded according to the Oxford Centre for Evidence-Based Medicine Levels of Evidence Scale. A total of 22 relevant articles were identified, all of which were retrospective in nature. Patient age at the time of surgery ranged from 1 month to 10 years, the longest duration of follow-up was 18 years, and the largest study included 106 patients. Review of the literature shows that overall surgical outcomes following combined cleft lip and palate repair are encouraging. An increased rate of postoperative fistulas with associated speech abnormalities in some studies is noteworthy. Importantly, there is no evidence to suggest an impact on craniomaxillofacial growth, and psychosocial outcomes and parental satisfaction seem to be improved with single-stage surgery as compared with the staged approach. Our review shows overall favorable outcomes associated with combined cleft lip and palate repair. The limited follow-up time or nature of evaluated outcomes in some studies may underrepresent the true rate of adverse events, and highlights the need for additional long-term studies with standardized follow-up. To our knowledge, our review is the first to evaluate existing data regarding outcomes following combined cleft lip and palate repair.

Structure-based Design and In-Parallel Synthesis of Inhibitors of AmpC b-lactamase

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tondi, D.; Powers, R.A.; Negri, M.C.

2010-03-08

Group I {beta}-lactamases are a major cause of antibiotic resistance to {beta}-lactams such as penicillins and cephalosporins. These enzymes are only modestly affected by classic {beta}-lactam-based inhibitors, such as clavulanic acid. Conversely, small arylboronic acids inhibit these enzymes at sub-micromolar concentrations. Structural studies suggest these inhibitors bind to a well-defined cleft in the group I {beta}-lactamase AmpC; this cleft binds the ubiquitous R1 side chain of {beta}-lactams. Intriguingly, much of this cleft is left unoccupied by the small arylboronic acids. To investigate if larger boronic acids might take advantage of this cleft, structure-guided in-parallel synthesis was used to explore newmore » inhibitors of AmpC. Twenty-eight derivatives of the lead compound, 3-aminophenylboronic acid, led to an inhibitor with 80-fold better binding (2; K{sub i} 83 nM). Molecular docking suggested orientations for this compound in the R1 cleft. Based on the docking results, 12 derivatives of 2 were synthesized, leading to inhibitors with K{sub i} values of 60 nM and with improved solubility. Several of these inhibitors reversed the resistance of nosocomial Gram-positive bacteria, though they showed little activity against Gram-negative bacteria. The X-ray crystal structure of compound 2 in complex with AmpC was subsequently determined to 2.1 {angstrom} resolution. The placement of the proximal two-thirds of the inhibitor in the experimental structure corresponds with the docked structure, but a bond rotation leads to a distinctly different placement of the distal part of the inhibitor. In the experimental structure, the inhibitor interacts with conserved residues in the R1 cleft whose role in recognition has not been previously explored. Combining structure-based design with in-parallel synthesis allowed for the rapid exploration of inhibitor functionality in the R1 cleft of AmpC. The resulting inhibitors differ considerably from {beta}-lactams but nevertheless inhibit the enzyme well. The crystal structure of 2 (K{sub i} 83 nM) in complex with AmpC may guide exploration of a highly conserved, largely unexplored cleft, providing a template for further design against AmpC {beta}-lactamase.« less

Cone-Beam Computed Tomography Analysis of the Nasopharyngeal Airway in Nonsyndromic Cleft Lip and Palate Subjects.

PubMed

Al-Fahdawi, Mahmood Abd; Farid, Mary Medhat; El-Fotouh, Mona Abou; El-Kassaby, Marwa Abdelwahab

2017-03-01

  To assess the nasopharyngeal airway volume, cross-sectional area, and depth in previously repaired nonsyndromic unilateral cleft lip and palate versus bilateral cleft lip and palate patients compared with noncleft controls using cone-beam computed tomography with the ultimate goal of finding whether cleft lip and palate patients are more liable to nasopharyngeal airway obstruction.   A retrospective analysis comparing bilateral cleft lip and palate, unilateral cleft lip and palate, and control subjects. Significance at P ≤ .05.   Cleft Care Center and the outpatient clinic that are both affiliated with our faculty.   Cone-beam computed tomography data were selected of 58 individuals aged 9 to 12 years: 14 with bilateral cleft lip and palate and 20 with unilateral cleft lip and palate as well as 24 age- and gender-matched noncleft controls.   Volume, depth, and cross-sectional area of nasopharyngeal airway were measured.   Patients with bilateral cleft lip and palate showed significantly larger nasopharyngeal airway volume than controls and patients with unilateral cleft lip and palate (P < .001). Patients with bilateral cleft lip and palate showed significantly larger cross-sectional area than those with unilateral cleft lip and palate (P < .001) and insignificant cross-sectional area compared with controls (P > .05). Patients with bilateral cleft lip and palate showed significantly larger depth than controls and those with unilateral cleft lip and palate (P < .001). Patients with unilateral cleft lip and palate showed insignificant nasopharyngeal airway volume, cross-sectional area, and depth compared with controls (P > .05).   Unilateral and bilateral cleft lip and palate patients did not show significantly less volume, cross-sectional area, or depth of nasopharyngeal airway than controls. From the results of this study we conclude that unilateral and bilateral cleft lip and palate patients at the studied age and stage of repaired clefts are not more prone to nasopharyngeal airway obstruction than controls.

IsoCleft Finder – a web-based tool for the detection and analysis of protein binding-site geometric and chemical similarities

PubMed Central

Najmanovich, Rafael

2013-01-01

IsoCleft Finder is a web-based tool for the detection of local geometric and chemical similarities between potential small-molecule binding cavities and a non-redundant dataset of ligand-bound known small-molecule binding-sites. The non-redundant dataset developed as part of this study is composed of 7339 entries representing unique Pfam/PDB-ligand (hetero group code) combinations with known levels of cognate ligand similarity. The query cavity can be uploaded by the user or detected automatically by the system using existing PDB entries as well as user-provided structures in PDB format. In all cases, the user can refine the definition of the cavity interactively via a browser-based Jmol 3D molecular visualization interface. Furthermore, users can restrict the search to a subset of the dataset using a cognate-similarity threshold. Local structural similarities are detected using the IsoCleft software and ranked according to two criteria (number of atoms in common and Tanimoto score of local structural similarity) and the associated Z-score and p-value measures of statistical significance. The results, including predicted ligands, target proteins, similarity scores, number of atoms in common, etc., are shown in a powerful interactive graphical interface. This interface permits the visualization of target ligands superimposed on the query cavity and additionally provides a table of pairwise ligand topological similarities. Similarities between top scoring ligands serve as an additional tool to judge the quality of the results obtained. We present several examples where IsoCleft Finder provides useful functional information. IsoCleft Finder results are complementary to existing approaches for the prediction of protein function from structure, rational drug design and x-ray crystallography. IsoCleft Finder can be found at: http://bcb.med.usherbrooke.ca/isocleftfinder. PMID:24555058

Risk factors leading to mucoperiosteal flap necrosis after primary palatoplasty in patents with cleft palate.

PubMed

Rossell-Perry, Percy; Figallo-Hudtwalcker, Olga; Vargas-Chanduvi, Roberto; Calderon-Ayvar, Yvette; Romero-Narvaez, Carolina

2017-10-01

Few studies have been published reporting risk factors for flap necrosis after primary palatoplasty in patients with cleft palate. This complication is rare, and the event is a disaster for both the patient and the surgeon. This study was performed to explore the associations between different risk factors and the development of flap necrosis after primary palatoplasty in patients with cleft palate. This is a case-control study. A 20 years retrospective analysis (1994-2015) of patients with nonsyndromic cleft palate was identified from medical records and screening day registries). Demographical and risk factor data were collected using a patient´s report, including information about age at surgery, gender, cleft palate type, and degree of severity. Odds ratios and 95% confident intervals were derived from logistic regression analysis. All cases with diagnoses of flap necrosis after primary palatoplasty were included in the study (48 patients) and 156 controls were considered. In multivariate analysis, female sex, age (older than 15 years), cleft type (bilateral and incomplete), and severe cleft palate index were associated with significantly increased risk for flap necrosis. The findings suggest that female sex, older age, cleft type (bilateral and incomplete), and severe cleft palatal index may be associated with the development of flap necrosis after primary palatoplasty in patients with cleft palate.

[Hearing capacity and speech production in 417 children with facial cleft abnormalities].

PubMed

Schönweiler, R; Schönweiler, B; Schmelzeisen, R

1994-11-01

Children with cleft palates often suffer from chronic conductive hearing losses, delayed language acquisition and speech disorders. This study presents results of speech and language outcomes in relation to hearing function and types of palatal malformations found. 417 children with cleft palates were examined during followup evaluations that extended over several years. Disorders were studied as they affected the ears, nose and throat, audiometry and speech and language pathology. Children with isolated cleft lips were excluded. Among the total group, 8% had normal speech and language development while 92% had speech or language disorders. 80% of these latter children had hearing problems that predominantly consisted of fluctuating conductive hearing losses caused by otitis media with effusion. 5% had sensorineural hearing losses. Fifty-eight children (14%) with rhinolalia aperta were not improved by speech therapy and required velopharyngoplasties, using a cranial-based pharyngeal flap. Language skills did not depend on the type of cleft palate presents but on the frequency and amount of hearing loss found. Otomicroscopy and audiometric follow-ups with insertions of ventilation tubes were considered to be most important for language development in those children with repeated middle ear infections. Speech or language therapy was necessary in 49% of the children.

Video-imaging assessment of nasal morphology in individuals with complete unilateral cleft lip and palate.

PubMed

Russell, K A; Waldman, S D; Lee, J M

2000-11-01

The purpose of this study was to develop a video-imaging mathematical method to assess nostril morphology. This retrospective study involved two age-matched groups: 28 subjects with complete unilateral cleft lip and palate (CUCLP) and 19 noncleft controls. Nose casts were reproducibly oriented in a jig such that the casts could be rotated about the coronal axis. Video images of the nostrils were captured and then analyzed for area, perimeter, centroid, principal axis, moments about the major and minor axes (I11, I22), anisometry, bulkiness, lateral offset, internostril angle, and rotational angle. All parameters identified nostril asymmetry in both groups. The results of the analyses using anisometry, I11, and I22 showed that, in both groups, one nostril was rounder and one was more elliptical. This asymmetry, however, differed between the two groups, and the difference was primarily based on the degree of ellipticity of the nostrils. Maximum dimension, perimeter, lateral offset, I11, and I22 were more asymmetric in the cleft group. In the control group, the right nostril was more elliptical and had a greater perimeter, and the left-side nostril had a greater bulkiness (enfolding). The method developed was validated for assessment of nasal morphology in cleft and noncleft samples. Nostril morphology was asymmetric in both groups but more asymmetric in the cleft group than the control group. The dominant influence of the cleft resulted in more elliptical noncleft nostrils and greater nostril shape asymmetry in the cleft group. The validated video-imaging method can now be used to assess the efficacy of treatment on nasal morphology.

The Cleft Care UK study. Part 4: perceptual speech outcomes.

PubMed

Sell, D; Mildinhall, S; Albery, L; Wills, A K; Sandy, J R; Ness, A R

2015-11-01

To describe the perceptual speech outcomes from the Cleft Care UK (CCUK) study and compare them to the 1998 Clinical Standards Advisory Group (CSAG) audit. A cross-sectional study of 248 children born with complete unilateral cleft lip and palate, between 1 April 2005 and 31 March 2007 who underwent speech assessment. Centre-based specialist speech and language therapists (SLT) took speech audio-video recordings according to nationally agreed guidelines. Two independent listeners undertook the perceptual analysis using the CAPS-A Audit tool. Intra- and inter-rater reliability were tested. For each speech parameter of intelligibility/distinctiveness, hypernasality, palatal/palatalization, backed to velar/uvular, glottal, weak and nasalized consonants, and nasal realizations, there was strong evidence that speech outcomes were better in the CCUK children compared to CSAG children. The parameters which did not show improvement were nasal emission, nasal turbulence, hyponasality and lateral/lateralization. These results suggest that centralization of cleft care into high volume centres has resulted in improvements in UK speech outcomes in five-year-olds with unilateral cleft lip and palate. This may be associated with the development of a specialized workforce. Nevertheless, there still remains a group of children with significant difficulties at school entry. © The Authors. Orthodontics & Craniofacial Research Published by John Wiley & Sons Ltd.

Novel insights into a retinoic-acid-induced cleft palate based on Rac1 regulation of the fibronectin arrangement.

PubMed

Tang, Qinghuang; Li, Liwen; Lee, Min-Jung; Ge, Qing; Lee, Jong-Min; Jung, Han-Sung

2016-03-01

Retinoic acid (RA)-induced cleft palate results from both extrinsic obstructions by the tongue and internal factors within the palatal shelves. Our previous study showed that the spatiotemporal expression of Rac1 regulates the fibronectin (FN) arrangement through cell density alterations that play an important role in palate development. In this study, we investigate the involvement of the Rac1 regulation of the FN arrangement in RA-induced cleft palate. Our results demonstrate that RA-induced intrinsic alterations in palatal shelves, including a delayed progress of cell condensation, delay palate development, even after the removal of the tongue. Further analysis shows that RA treatment diminishes the region-distinctive expression of Rac1 within the palatal shelves, which reversely alters the fibrillar arrangement of FN. Furthermore, RA treatment disrupts the formation of lamellipodia, which are indicative structures of cell migration that are regulated by Rac1. These results suggest that the Rac1 regulation of the FN arrangement is involved in RA-induced cleft palate through the regulation of cell migration, which delays the progress of cell condensation and subsequently influences the FN arrangement, inducing a delay in palate development. Our study provides new insights into the RA-induced impairment of palatal shelf elevation based on cell migration dynamics.

Maxillofacial growth and speech outcome after one-stage or two-stage palatoplasty in unilateral cleft lip and palate. A systematic review.

PubMed

Reddy, Rajgopal R; Gosla Reddy, Srinivas; Vaidhyanathan, Anitha; Bergé, Stefaan J; Kuijpers-Jagtman, Anne Marie

2017-06-01

The number of surgical procedures to repair a cleft palate may play a role in the outcome for maxillofacial growth and speech. The aim of this systematic review was to investigate the relationship between the number of surgical procedures performed to repair the cleft palate and maxillofacial growth, speech and fistula formation in non-syndromic patients with unilateral cleft lip and palate. An electronic search was performed in PubMed/old MEDLINE, the Cochrane Library, EMBASE, Scopus and CINAHL databases for publications between 1960 and December 2015. Publications before 1950-journals of plastic and maxillofacial surgery-were hand searched. Additional hand searches were performed on studies mentioned in the reference lists of relevant articles. Search terms included unilateral, cleft lip and/or palate and palatoplasty. Two reviewers assessed eligibility for inclusion, extracted data, applied quality indicators and graded level of evidence. Twenty-six studies met the inclusion criteria. All were retrospective and non-randomized comparisons of one- and two-stage palatoplasty. The methodological quality of most of the studies was graded moderate to low. The outcomes concerned the comparison of one- and two-stage palatoplasty with respect to growth of the mandible, maxilla and cranial base, and speech and fistula formation. Due to the lack of high-quality studies there is no conclusive evidence of a relationship between one- or two-stage palatoplasty and facial growth, speech and fistula formation in patients with unilateral cleft lip and palate. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Open conformation of a substrate-binding cleft: sup 19 F NMR studies of cleft angle in the D-galactose chemosensory receptor

DOE Office of Scientific and Technical Information (OSTI.GOV)

Luck, L.A.; Falke, J.J.

1991-07-02

The Escherichia coli D-galactose and D-glucose receptor is a two-domain structure with a sugar-binding site at the interface between domains. The structure of the closed cleft containing bound D-glucose has been determined crystalloghraphically, but the open cleft remains to be characterized. The present study illustrates a generalizable approach that is used to detect and analyze both the open- and closed-cleft conformations in solution. A {sup 19}F nucleus located inside the cleft is monitored by {sup 19}F NMR. When the cleft is occupied by D-glucose, the {sup 19}F nucleus is found to be inaccessible to the aqueous paramagnetic probe Gd{center dot}EDTA,more » verifying that the occupied cleft is closed in solution and inaccessible to bulk solvent. When the cleft is empty, the {sup 19}F nucleus becomes accessible to the paramagnet such that the distance of closest approach is r {le} 10 {angstrom}, indicating that the empty cleft opens at least transiently by an angle {theta} {ge} 18 {plus minus} 3{degrees}.« less

Haplotype diversity in 11 candidate genes across four populations.

PubMed

Beaty, T H; Fallin, M D; Hetmanski, J B; McIntosh, I; Chong, S S; Ingersoll, R; Sheng, X; Chakraborty, R; Scott, A F

2005-09-01

Analysis of haplotypes based on multiple single-nucleotide polymorphisms (SNP) is becoming common for both candidate gene and fine-mapping studies. Before embarking on studies of haplotypes from genetically distinct populations, however, it is important to consider variation both in linkage disequilibrium (LD) and in haplotype frequencies within and across populations, as both vary. Such diversity will influence the choice of "tagging" SNPs for candidate gene or whole-genome association studies because some markers will not be polymorphic in all samples and some haplotypes will be poorly represented or completely absent. Here we analyze 11 genes, originally chosen as candidate genes for oral clefts, where multiple markers were genotyped on individuals from four populations. Estimated haplotype frequencies, measures of pairwise LD, and genetic diversity were computed for 135 European-Americans, 57 Chinese-Singaporeans, 45 Malay-Singaporeans, and 46 Indian-Singaporeans. Patterns of pairwise LD were compared across these four populations and haplotype frequencies were used to assess genetic variation. Although these populations are fairly similar in allele frequencies and overall patterns of LD, both haplotype frequencies and genetic diversity varied significantly across populations. Such haplotype diversity has implications for designing studies of association involving samples from genetically distinct populations.

The 100 Most-Cited Human Cleft Lip and Palate-Related Articles Published in Dentistry, Oral Surgery, and Medicine Journals.

PubMed

Christou, Panagiotis; Antonarakis, Gregory S

2015-07-01

To identify the 100 most-cited articles pertaining to human cleft lip and palate research published in dentistry, oral surgery, and medicine journals and to identify their principal bibliometric characteristics. Web-based bibliometric analysis. The Web of Science was searched to identify the 100 most-cited clinical articles related to cleft lip and/or palate. Information was extracted with regard to total number of citations, number of authors, affiliations, year, and journal of publication, Medical Subject Headings, type of study, specific area of study. Trends in citations were assessed. The 100 most-cited articles identified received between 437 and 58 citations. The oldest was published in 1954 and the most recent in 2008. The number of authors ranged from 1 to 12, with an average of three authors per article. Most of the first authors were affiliated with institutions in the United States, with the most prolific institution being the University of Iowa. More than 70% of the studies appeared in The Cleft Palate-Craniofacial Journal. There was a significant negative correlation between average citations per year and time since publication (P < .001); whereas, a significant positive correlation was observed between average citations per year and number of total citations (P < .001). The 100 most-cited articles in human cleft lip and palate research published in dentistry, oral surgery, and medicine journals are listed and characterized. This can be used as a potential knowledge base for specialists in training or to produce relevant knowledge defining the direction of future research.

Strategies to Improve Regeneration of the Soft Palate Muscles After Cleft Palate Repair

PubMed Central

Carvajal Monroy, Paola L.; Grefte, Sander; Kuijpers-Jagtman, Anne Marie; Wagener, Frank A.D.T.G.

2012-01-01

Children with a cleft in the soft palate have difficulties with speech, swallowing, and sucking. These patients are unable to separate the nasal from the oral cavity leading to air loss during speech. Although surgical repair ameliorates soft palate function by joining the clefted muscles of the soft palate, optimal function is often not achieved. The regeneration of muscles in the soft palate after surgery is hampered because of (1) their low intrinsic regenerative capacity, (2) the muscle properties related to clefting, and (3) the development of fibrosis. Adjuvant strategies based on tissue engineering may improve the outcome after surgery by approaching these specific issues. Therefore, this review will discuss myogenesis in the noncleft and cleft palate, the characteristics of soft palate muscles, and the process of muscle regeneration. Finally, novel therapeutic strategies based on tissue engineering to improve soft palate function after surgical repair are presented. PMID:22697475

Strategies to improve regeneration of the soft palate muscles after cleft palate repair.

PubMed

Carvajal Monroy, Paola L; Grefte, Sander; Kuijpers-Jagtman, Anne Marie; Wagener, Frank A D T G; Von den Hoff, Johannes W

2012-12-01

Children with a cleft in the soft palate have difficulties with speech, swallowing, and sucking. These patients are unable to separate the nasal from the oral cavity leading to air loss during speech. Although surgical repair ameliorates soft palate function by joining the clefted muscles of the soft palate, optimal function is often not achieved. The regeneration of muscles in the soft palate after surgery is hampered because of (1) their low intrinsic regenerative capacity, (2) the muscle properties related to clefting, and (3) the development of fibrosis. Adjuvant strategies based on tissue engineering may improve the outcome after surgery by approaching these specific issues. Therefore, this review will discuss myogenesis in the noncleft and cleft palate, the characteristics of soft palate muscles, and the process of muscle regeneration. Finally, novel therapeutic strategies based on tissue engineering to improve soft palate function after surgical repair are presented.

Presurgical Unilateral Cleft Lip Anthropometrics and the Presence of Dental Anomalies.

PubMed

Antonarakis, Gregory S; Fisher, David M

2015-07-01

To investigate associations between cleft lip anthropometrics and dental anomalies in the permanent dentition in unilateral cleft lip patients. Retrospective cross-sectional study. Children with unilateral clefts of the lip, with or without cleft palate. Anthropometric lip measurements, made immediately prior to lip repair, were available for each patient. The presence of dental anomalies in the permanent dentition was assessed radiographically. The presence of associations between anthropometric lip measurements and prevalence rates of different dental anomalies were determined using logistic regression analyses. In the 122 included patients, the cleft lateral lip element was deficient in height in 80% and in transverse length in 84% of patients. Patients with more deficient cleft side lateral lip height and less deficient cleft side lateral lip transverse length were more likely to present with cleft side maxillary lateral incisor agenesis. On the other hand, patients with a less deficient cleft side lateral lip height and more deficient cleft side lateral lip transverse length were more likely to present with a cleft side supernumerary maxillary lateral incisor. When looking only at incomplete clefts, the cleft side lateral lip transverse length deficiency was more predictive of the presence of supernumerary maxillary lateral incisors (P = .030), while for complete clefts, the cleft side lateral lip height deficiency was more predictive of the presence of maxillary lateral incisor agenesis (P = .035). In patients with unilateral clefts, cleft lip anthropometrics have a predictive role in determining the occurrence of dental anomalies.

Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France.

PubMed Central

Stoll, C; Alembik, Y; Dott, B; Roth, M P

1991-01-01

The epidemiology of oral clefts was studied in the geographical area covered by our registry of congenital malformations. For each of the 207 new cases studied during the period 1979 to 1987, more than 50 factors were compared in probands and controls. The incidence of oral clefts was 1.75 per 1000, with cleft lip/palate (CL(P] 0.98 and cleft palate only (CP) 0.77 per 1000. A total of 8.2% of cleft cases were stillbirths and 5.3% were induced abortions. The more common types of associated malformations in the 76 affected cases (36.7%) with at least one anomaly other than oral cleft were neural tube defects and skeletal malformations. At birth, infants with oral clefts and other malformations were smaller, weighed less, and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with oral clefts were more often complicated by threatened abortion, polyhydramnios, and arterial hypertension. There was a significant association between clefting and consanguinity; heritability of CL(P) was 81% and first degree relatives of probands had more than three times the prevalence of noncleft malformations as controls. These results are of relevance to genetic counselling. PMID:1842671

A Longitudinal Study of the Presence of Dental Anomalies in the Primary and Permanent Dentitions of Cleft Lip and/or Palate Patients.

PubMed

Suzuki, Akira; Nakano, Masayuki; Yoshizaki, Keigo; Yasunaga, Atsushi; Haruyama, Naoto; Takahashi, Ichiro

2017-05-01

  The aim is to survey primary and permanent dental anomalies: hypodontia, microdontia, a supernumerary tooth, and fused teeth in patients with cleft lip and/or palate.   Retrospective longitudinal study Subjects :  The subjects were selected from all 1724 patients with cleft lip and/or palate who were registered at the orthodontic clinic of Kyushu University Hospital, Fukuoka, Japan, from 1970 to 2009. Finally, 994 subjects were evaluated for primary dentition, 1352 for permanent dentition, and 871 for the longitudinal changes from primary to permanent dentition.   The prevalence of dental anomalies was compared for each tooth type, among various cleft types, between males and females, and between the alveolar cleft area and the noncleft area.   The prevalence of hypodontia was 16.2% for primary dentition and 52.7% for permanent dentition in the subjects with cleft lip and/or palate. Hypodontia increased with the severity of the cleft type. Multiple hypodontia was found more frequently in the subjects with bilateral cleft lip and palate and the subjects with unilateral cleft lip and palate. Microformed lateral incisors were found in 22.7% of permanent lateral incisors but not in primary dentition. Supernumerary teeth were found in 17.7% of the subjects with cleft lip and/or palate for primary maxillary dentition and in 5.7% for permanent maxillary dentition.   The prevalence of hypodontia was greater in permanent dentition than in primary dentition; although, it was not much different between males and females or between the right and left sides. The prevalence of dental anomalies was significantly different among four groups by cleft type: cleft lip, cleft lip and alveolus, cleft lip and palate, and cleft palate.

Lower concentrations of receptor for advanced glycation end products and epiregulin in amniotic fluid correlate to chemically induced cleft palate in mice.

PubMed

Wang, Xinhuan; Zhu, Jingjing; Fang, Yanjun; Bian, Zhuan; Meng, Liuyan

2017-04-01

This study investigated the correlation between differentially expressed proteins in amniotic fluid (AF) and cleft palate induced by all-trans retinoic acid (atRA), and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in mice. Seven proteins were differentially expressed at embryonic day (E) 16.5 in atRA and control groups as revealed by label-based mouse antibody array. Enzyme-linked immunosorbent assay was further used to detect the expression levels of these proteins in AF from E13.5 to E16.5 in atRA, TCDD, and control groups. The cleft palate groups showed lower concentrations of receptor for advanced glycation end products (RAGE) and epiregulin at E16.5. RAGE immunostaining obviously decreased in palatal tissue sections obtained from E14.5 to E16.5 in the cleft palate groups as revealed by immunohistochemistry. These findings indicate that reduced levels of RAGE and epiregulin in AF are correlated to chemically induced cleft palate in mice. Copyright © 2017 Elsevier B.V. All rights reserved.

Ear Infection in Isolated Cleft Lip: Etiological Implications.

PubMed

Ruegg, Teresa A; Cooper, Margaret E; Leslie, Elizabeth J; Ford, Matthew D; Wehby, George L; Deleyiannis, Frederic W B; Czeizel, Andrew E; Hecht, Jacqueline T; Marazita, Mary L; Weinberg, Seth M

2017-03-01

  Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n = 94) compared with controls (n = 183).   A questionnaire was used to obtain information on history of chronic ear infection. The association between ear infection status (present/absent) and cleft lip status (cleft lip case/control) was tested using both chi-square and logistic regression.   The reported occurrence of chronic ear infection was significantly greater in cleft lip cases (31%) compared with unaffected controls (11%). After adjusting for age and sex, having a cleft lip increased the odds of being positive for ear infection by a factor greater than 3 (odds ratio = 3.698; 95% confidence interval = 1.91 to 7.14). Within cleft lip cases, there was no difference in the occurrence of ear infection by defect laterality or by the type of clefting present in the family history. Although velopharyngeal insufficiency was present in 18.4% of our cleft lip sample, there was no statistical association between ear infection and abnormal speech patterns. These results may have potential implications both for the clinical management of isolated cleft lip cases and for understanding the etiology of orofacial clefting.

Ear Infection in Isolated Cleft Lip: Etiological Implications

PubMed Central

Ruegg, Teresa A.; Cooper, Margaret E.; Leslie, Elizabeth J.; Ford, Matthew D.; Wehby, George L.; Deleyiannis, Frederic W.B.; Czeizel, Andrew E.; Hecht, Jacqueline T.; Marazita, Mary L.; Weinberg, Seth M.

2015-01-01

Background and Hypothesis Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n=94) compared with controls (n=183). Methods A questionnaire was used to obtain information on history of chronic ear infection. The association between ear infection status (present/absent) and cleft lip status (cleft lip case/control) was tested using both chi-square and logistic regression. Results and Conclusions The reported occurrence of chronic ear infection was significantly greater in cleft lipcases (31%) compared to unaffected controls (11%). After adjusting for age and sex, having a cleft lip increased the odds of being positive for ear infection by a factor greater than three (OR=3.698; 95%CI=1.91–7.14). Within cleft lipcases, there was no difference in the occurrence of ear infection by defect laterality or by the type of clefting present in the family history. Although velopharyngeal insufficiency was present in 18.4% of our cleft lip sample, there was no statistical association between ear infection and abnormal speech patterns. These results may have potential implications both for the clinical management of isolated cleft lip cases and for understanding the etiology of orofacial clefting. PMID:26153759

[Surgical correction of cleft palate].

PubMed

Kimura, F T; Pavia Noble, A; Soriano Padilla, F; Soto Miranda, A; Medellín Rodríguez, A

1990-04-01

This study presents a statistical review of corrective surgery for cleft palate, based on cases treated at the maxillo-facial surgery units of the Pediatrics Hospital of the Centro Médico Nacional and at Centro Médico La Raza of the National Institute of Social Security of Mexico, over a five-year period. Interdisciplinary management as performed at the Cleft-Palate Clinic, in an integrated approach involving specialists in maxillo-facial surgery, maxillar orthopedics, genetics, social work and mental hygiene, pursuing to reestablish the stomatological and psychological functions of children afflicted by cleft palate, is amply described. The frequency and classification of the various techniques practiced in that service are described, as well as surgical statistics for 188 patients, which include a total of 256 palate surgeries performed from March 1984 to March 1989, applying three different techniques and proposing a combination of them in a single surgical time, in order to avoid complementary surgery.

Studies of genes involved in craniofacial development and tumorigenesis: FGF3 contributes to isolated oral clefts and may interact with PAX9.

PubMed

Küchler, Erika C; Sabóia, Ticiana M; Vieira, Thays C; Lips, Andrea; Tannure, Patricia N; Deeley, Kathleen; Reis, Maria F; Ho, Bao; Rey, Ana C; Costa, Marcelo C; Granjeiro, José M; Vieira, Alexandre R

2014-11-01

Previous studies suggest individuals born with oral clefts and their families have a higher susceptibility for cancer, which raises the hypothesis that these two conditions share common molecular pathways. This study evaluated the association between oral clefts and polymorphisms in genes that play a role in craniofacial and tumor development. Four hundred and ninety-seven subjects born with oral clefts and 823 unaffected subjects were recruited. Twenty-nine markers in 13 genes were genotyped by the Taqman method. Chi-square was used to compare allele and genotype frequencies. Bonferroni correction for multiple testing was used and the established alpha was 0.0003. This study also used logistic regression to test if genetic variants were associated with oral clefts using positive family history of cancer and age as covariates. There was no association between family history of cancer and oral clefts (p = 0.51). None of the 1320 study participants had a diagnosis of cancer at the time of participation in the study. The marker rs4980700 in FGF3 was associated with oral clefts (p = 0.0002). Logistic regression analysis also provided evidence for gene-gene interaction between FGF3 (rs4980700) and PAX9 (rs2073242), increasing the risk for isolated oral clefts (p = 0.0003). FGF3 is associated with oral clefts and may interact with PAX9.

Safe sleeping positions: practice and policy for babies with cleft palate.

PubMed

Davies, Karen; Bruce, Iain A; Bannister, Patricia; Callery, Peter

2017-05-01

Guidance recommends 'back to sleep' positioning for infants from birth in order to reduce the risk of sudden infant death. Exceptions have been made for babies with severe respiratory difficulties where lateral positioning may be recommended, although uncertainty exists for other conditions affecting the upper airway structures, such as cleft palate. This paper presents research of (i) current advice on sleep positioning provided to parents of infants with cleft palate in the UK; and (ii) decision making by clinical nurse specialists when advising parents of infants with cleft palate. A qualitative descriptive study used data from a national survey with clinical nurse specialists from 12 regional cleft centres in the UK to investigate current practice. Data were collected using semi-structured telephone interviews and analysed using content analysis. Over half the regional centres used lateral sleep positioning based on clinical judgement of the infants' respiratory effort and upper airway obstruction. Assessment relied upon clinical judgement augmented by a range of clinical indicators, such as measures of oxygen saturation, heart rate and respiration. Specialist practitioners face a clinical dilemma between adhering to standard 'back to sleep' guidance and responding to clinical assessment of respiratory effort for infants with cleft palate. In the absence of clear evidence, specialist centres rely on clinical judgement regarding respiratory problems to identify what they believe is the most appropriate sleeping position for infants with cleft palate. Further research is needed to determine the best sleep position for an infant with cleft palate. What is Known • Supine sleep positioning reduces the risk of sudden infant death in new born infants. • There is uncertainty about the benefits or risks of lateral sleep positioning for infants with upper airway restrictions arising from cleft palate. What is New • Variability exists in the information/advice provided to parents of infants with cleft palate regarding sleep positioning. • Over half the national specialist centres for cleft palate in the UK advise positioning infants with CP in the lateral position as a routine measure to reduce difficulties with respiration.

Cranio-facial clefts in pre-hispanic America.

PubMed

Marius-Nunez, A L; Wasiak, D T

2015-10-01

Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review.

PubMed

Sreejith, V P; Arun, V; Devarajan, Anooj P; Gopinath, Arjun; Sunil, Madhuri

2018-01-01

Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities. The identification of the defect at an early stage in the pregnancy helps the parents to be well informed and counseled regarding the treatment possibilities and outcomes of cleft lip and palate (CLP) treatment. To analyze the psychological effects of prenatal diagnosis of CLP on the parents. PubMed, Cochrane, and Google Scholar searches were made with search strings "prenatal diagnosis cleft lip palate," "antenatal diagnosis," "anomaly scan," "psychological effect cleft lip palate," and "prenatal counseling cleft lip palate." Of the results obtained, studies which evaluated the psychological aspects of parents of cleft children were further included in the study. Electronic search yielded 500 articles after duplication removal. Forty studies concentrated on the results of the scan and their implications predominantly in the diagnosis and management of cleft and other related abnormalities. Eight studies discussed the effects of prenatal diagnosis and counseling on the parents. Prenatal diagnosis enables appropriate and timely counseling of the parents by the cleft team and helps instill a sense of preparedness for the family which highly improves the quality of treatment received by the child enabling a near-to-normal quality and standard of life.

Palatogenesis

PubMed Central

Levi, Benjamin; Brugman, Samantha; Wong, Victor W; Grova, Monica; Longaker, Michael T

2011-01-01

Cleft palate represents the second most common birth defect and carries substantial physiologic and social challenges for affected patients, as they often require multiple surgical interventions during their lifetime. A number of genes have been identified to be associated with the cleft palate phenotype, but etiology in the majority of cases remains elusive. In order to better understand cleft palate and both surgical and potential tissue engineering approaches for repair, we have performed an in-depth literature review into cleft palate development in humans and mice, as well as into molecular pathways underlying these pathologic developments. We summarize the multitude of pathways underlying cleft palate development, with the transforming growth factor β superfamily being the most commonly studied. Furthermore, while the majority of cleft palate studies are performed using a mouse model, studies focusing on tissue engineering have also focused heavily on mouse models. A paucity of human randomized controlled studies exists for cleft palate repair, and so far, tissue engineering approaches are limited. In this review, we discuss the development of the palate, explain the basic science behind normal and pathologic palate development in humans as well as mouse models and elaborate on how these studies may lead to future advances in palatal tissue engineering and cleft palate treatments. PMID:21964245

Novel computer vision analysis of nasal shape in children with unilateral cleft lip.

PubMed

Mercan, Ezgi; Morrison, Clinton S; Stuhaug, Erik; Shapiro, Linda G; Tse, Raymond W

2018-01-01

Optimization of treatment of the unilateral cleft lip nasal deformity (uCLND) is hampered by lack of objective means to assess initial severity and changes produced by treatment and growth. The purpose of this study was to develop automated 3D image analysis specific to the uCLND; assess the correlation of these measures to esthetic appraisal; measure changes that occur with treatment and differences amongst cleft types. Dorsum Deviation, Tip-Alar Volume Ratio, Alar-Cheek Definition, and Columellar Angle were assessed using computer-vision techniques. Subjects included infants before and after primary cleft lip repair (N = 50) and children aged 8-10 years with previous cleft lip (N = 50). Two expert surgeons ranked subjects according to esthetic nose appearance. Computer-based measurements strongly correlated with rankings of infants pre-repair (r = 0.8, 0.75, 0.41 and 0.54 for Dorsum Deviation, Tip-Alar Volume Ratio, Alar-Cheek Definition, and Columellar Angle, p < 0.01) while all measurements except Alar-Cheek Definition correlated moderately with rankings of older children post-repair (r ∼ 0.35, p < 0.01). Measurements were worse with greater severity of cleft type but improved following initial repair. Abnormal Dorsum Deviation and Columellar Angle persisted after surgery and were more severe with greater cleft type. Four fully-automated measures were developed that are clinically relevant, agree with expert evaluations and can be followed through initial surgery and in older children. Computer vision analysis techniques can quantify the nasal deformity at different stages, offering efficient and standardized tools for large studies and data-driven conclusions. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

The comparative study of resonance disorders for Vietnamese and Korean cleft palate speakers using nasometer.

PubMed

Shin, Yu-Jeong; Kim, Yongsoo; Kim, Hyun-Gi

2017-12-01

Nasalance is used to evaluate the velopharyngeal incompetence in clinical diagnoses using a nasometer. The aim of this study is to find the nasalance differences between Vietnamese cleft palate children and Korean cleft palate children by measuring the nasalance of five oral vowels. Ten Vietnamese cleft palate children after surgery, three Vietnamese children for the control group, and ten Korean cleft palate children after surgery with the same age participated in this experimentation. Instead of Korean control, the standard value of Korean version of the simplified nasometric assessment procedures (kSNAP) was used. The results are as follows: (1) the highest nasalance score among the Vietnamese normal vowels is the low vowel /a/; however, that of Korean normal vowels is the high vowel /i/. (2) The average nasalance score of Korean cleft palate vowels is 18% higher than that of Vietnamese cleft palate vowels. There was a nasalance score of over 45% among the vowels /e/ and /i/ in Vietnamese cleft palate patients and /i/, /o/, and /u/ in Korean cleft palate patients. These different nasalance scores of the same vowels seem to cause an ethnic difference between Vietnamese and Korean cleft palate children.

Changes in nose symmetry in unilateral cleft lip and palate treated by differing pre-surgical assistance: An objective assessment of primary repair.

PubMed

Spolyar, John L; Roldán, J Camilo

2015-07-01

Residual deformity of the nose, not lip, continues to be the greater challenge in UCCLP rehabilitation. Platform distortions often re-emerge following primary reconstruction revealing the stereotypical cleft-nose. Nasal alveolar molding reduces nose asymmetry. However, this study applies directional mechanics to the underlying platform distortions and soft tissue nose, introducing a novel device addressing the distorted septo-premaxillary junction. Retrospective assessment of 47 UCCLP patients by 2-dimensional photographic analysis with 24 subjects treated by dento-maxillary advancement (DMA) and nasal septum button-head pin (NSBP), 17 having nasal molding (NM), compared to 23 subjects without nose treatment, 16 with DMA and 7 with passive plates. Measurements were assessed by t tests, ≤ 05 confidence. Frontal view: nose-treatment sample achieved ideal ala-bases vertical symmetry (p = 0.00065 & 0.00073); significantly improved ala-rims "slump" angle (p = 0.0071). Both samples had nose positioning within the facial frame like non-cleft population. Sub-nasal view: significant differences were for columella angle (p = 0.0015), nares "offset" (p = 0.002), and columella symmetry (p = 0.022) with nose-treatment achieving near ideal columella symmetry score (0.92) vs. (0.81). NM and the novel NSBP procedures integrated with the platform correction effect of the DMA successfully treated at three distorted anatomic-levels native to UCCLP to improve nasal aesthetics. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Cleft closure and undersizing annuloplasty improve mitral repair in atrioventricular canal defects

PubMed Central

Padala, Muralidhar; Vasilyev, Nikolay V.; Owen, James W.; Jimenez, Jorge H.; Dasi, Lakshmi P.; del Nido, Pedro J.; Yoganathan, Ajit P.

2009-01-01

Objective Reoperation rates to correct left atrioventricular valve regurgitation after primary repair of atrioventricular canal defects remain relatively high. The causes of valvular regurgitation are likely multifactorial, and simple cleft closure is often insufficient to prevent recurrence. Methods To elucidate the mechanisms leading to regurgitation, we conducted hemodynamic studies using isolated native mitral valves. Anatomy of these valves was altered to mimic atrioventricular canal type valves and studied under pediatric hemodynamic conditions. The impact of subvalvular geometry, cleft closure, annular dilatation, and annular undersizing on regurgitation were investigated. Results Papillary muscle position did not have a significant effect on regurgitation. Cleft closure had a significant impact on valvular competence, with reduction in regurgitation volume with increased cleft closure. Regurgitation volume decreased from 12.5 ± 2.4 mL/beat for an open cleft to 4.9 ± 1.9 mL/beat for a partially closed cleft and to 1.4 ± 1.6 mL/beat when the cleft was completely closed. Annular dilatation had a significant impact on regurgitation even after cleft closure. A 40% increase in annular size increased regurgitation by 59% for a partially closed cleft and by 84% for a fully closed cleft. Reducing the annular size by 20% from the physiologic level decreased the regurgitation volume by 12% for a fully open cleft and by 58% for the partially closed cleft case. Conclusions Annular dilatation after primary repair has a potentially significant role in the recurrence of atrioventricular valve regurgitation. Reducing the annular size and restricting dilatation as an adjunct to cleft closure is a promising surgical approach in such valve anatomies. PMID:19026810

Assessment of patients' level of satisfaction with cleft treatment using the Cleft Evaluation Profile.

PubMed

Noor, Siti Noor Fazliah Mohd; Musa, Sabri

2007-05-01

Determination of the psychosocial status and assessment of the level of satisfaction in Malaysian cleft palate patients and their parents. Cross-sectional study. Sixty cleft lip and palate patients (12 to 17 years of age) from Hospital Universiti Sains Malaysia and their parents were selected. The questionnaires used were the Child Interview Schedule, the Parents Interview Schedule, and the Cleft Evaluation Profile (CEP), administered via individual interviews. Patients were teased because of their clefts and felt their self-confidence was affected by the cleft condition. They were frequently teased about cleft-related features such as speech, teeth, and lip appearance. Parents also reported that their children were being teased because of their clefts and that their children's self-confidence was affected by the clefts. Both showed a significant level of satisfaction with the treatment provided by the cleft team. There was no significant difference between the responses of the patients and their parents. The features that were found to be most important for the patients and their parents, in decreasing order of priority, were teeth, nose, lips, and speech. Cleft lip and/or palate patients were teased because of their clefts, and it affected their self-confidence. The Cleft Evaluation Profile is a reliable and useful tool to assess patients' level of satisfaction with treatment received for cleft lip and/or palate and can identify the types of cleft-related features that are most important for the patients.

Improvement of nasal breathing in cleft patients following midface osteotomy.

PubMed

Götzfried, H F; Masing, H

1988-02-01

In 20 adult cleft patients, the influence of a Le-Fort-I-osteotomy and ventral-caudal advancement of the maxilla on nasal breathing was studied. An increase of nasal air flow in the majority of patients is due to an increase in the volume of nasal skeleton and/or in the nasolabial angle and alar nasal base. Rhinomanometric measurements and X-ray examination confirm the results.

Three-dimensional analysis of maxillary development in patients with unilateral cleft lip and palate during the first six years of life.

PubMed

Stancheva, Nadezhda; Dannhauer, Karl-Heinz; Hemprich, Alexander; Krey, Karl-Friedrich

2015-09-01

The purpose of this work was to analyse early upper-jaw development in patients with unilateral cleft lip and palate (UCLP) treated using two different concepts and to compare shape and size developments between these two groups and a group of noncleft patients. A total of 204 maxillary casts available for this study from 50 UCLP patients were analyzed for upper-jaw development based on three-dimensional measurements performed with a Reflex Microscope from birth up to 71 months of age. Thirty-five of these 50 patients were part of an early treatment group (two-stage cleft closure with single-stage palatoplasty at an age of 10-14 months) and 15 were part of a late treatment group (two-stage cleft closure with palatoplasty at an age of 4-7 years). The control group included 39 casts of 17 noncleft patients. Analysis of shape and size between the patients in the three groups yielded statistically significant differences between the cleft and the noncleft patients. In both treatment groups, we made observations typically associated with cleft formation like lateralization, asymmetry of the greater and lesser cleft segments, and pronounced vertical deviations of the segments. Viewed in all dimensions, however, the patients in the early treatment group approached the control group more closely, although a statistically significant difference was still observed. Our results suggest that the timing of hard-palate closure is not a decisive factor for upper-jaw development. Intrinsic factors (initial cleft width, presence of tooth buds) and the surgeon's skills appear to have a much more defining role.

A Mixed-Method Study to Determine the Benefits of Periconceptional Folic Acid Supplementation and Effects of Folic Acid Deficiency in Mothers on Birth Outcomes.

PubMed

Murthy, Gudlavalleti Venkata S; Kolli, Sunanda Reddy; Neogi, Sutapa B; Singh, Samiksha; Allagh, Komal Preet; John, Neena; N, Srinivas; Ramani, Sudha; Shamanna, B R; Doyle, Pat; Kinra, Sanjay; Ness, Andy; Pallepogula, Dinesh Raj; Pant, Hira B; Babbar, Smiksha; Reddy, Raghunath; Singh, Rachna

2016-06-23

Evidence from high income countries shows mothers who are supplemented with folic acid in their periconceptional period and early pregnancy have significantly reduced adverse outcomes like birth defects. However, in India there is a paucity of data on association of birth defects and folic acid supplementation. We identified a few important questions to be answered using separate scientific methods and then planned to triangulate the information. In this paper, we describe the protocol of our study that aims to determine the association of folic acid and pregnancy outcomes like neural tube defects (NTDs) and orofacial clefts (OFCs). We decided to fill the gaps in knowledge from India to determine public health consequences of folic acid deficiency and factors influencing dietary and periconceptional consumption of folic acid. The proposed study will be carried out in five stages and will examine the questions related to folic acid deficiency across selected locations in South and North India. The study will be carried out over a period of 4 years through the hierarchical evidence-based approach. At first a systematic review was conducted to pool the current birth prevalence of NTDs and orofacial clefts OFCs in India. To investigate the population prevalence, we plan to use the key informant method to determine prevalence of NTDs and OFCs. To determine the normal serum estimates of folic acid, iron, and vitamin B12 among Indian women (15-35 years), we will conduct a population-based, cross-sectional study. We will further strengthen the evidence of association between OFCs and folic acid by conducting a hospital-based, case-control study across three locations of India. Lastly, using qualitative methods we will understand community and health workers perspective on factors that decide the intake of folic acid supplements. This study will provide evidence on the community prevalence of birth defects and prevalence folic acid and vitamin B12 deficiency in the community. The case-control study will help understand the association of folic acid deficiency with OFCs. The results from this study are intended to strengthen the evidence base in childhood disability for planning and policy initiatives.

Factors related to quality of life and satisfaction with nasal appearance in patients treated for unilateral cleft lip and palate.

PubMed

Mani, Maria; Reiser, Erika; Andlin-Sobocki, Anna; Skoog, Valdemer; Holmström, Mats

2013-07-01

Objective : To identify factors related to quality of life (QoL) and satisfaction with nasal appearance among patients treated for unilateral cleft lip and palate (UCLP). Design : Cross-sectional population study with long-term follow-up. Patients/Settings : All patients with UCLP born between 1960 and 1987, treated at Uppsala University Hospital, were invited (n  =  109); 86 (79%) participated. Mean follow-up time was 35 years. Main Outcome Measures : Quality of life was measured with Short Form-36 (SF-36) and analyzed using mental and physical cluster scores (MCS and PCS). Nasal appearance was self-assessed with the "Satisfaction With Appearance" questionnaire and by panel judgment. Multivariate regression analyses explored endogenous factors (age, gender, infancy cleft width, nasal function, nasolabial appearance) and exogenous factors (marital status, number of children, education level, operation method, number of rhinoplasties performed). Results : A larger cleft width in infancy was associated with less satisfaction with nasal appearance as adults. A lower mental health QoL was associated with less satisfaction with nasal appearance. Despite female gender being linked to less satisfaction with nasal appearance, it was associated with higher mental health QoL. Higher resistance during nasal breathing was associated with lower physical health QoL. Conclusions : Gender and infant cleft width may affect QoL and satisfaction with nasal appearance among adults. They are potential predictive factors for satisfaction with nasal appearance and QoL during adulthood. The correlation of nasal function impairment and decreased physical health QoL underlines the importance of treatment of nasal symptoms in these patients.

Engineering out motion: introduction of a de novo disulfide bond and a salt bridge designed to close a dynamic cleft on the surface of cytochrome b5.

PubMed

Storch, E M; Daggett, V; Atkins, W M

1999-04-20

A previous molecular dynamics (MD) simulation of cytochrome b5 (cyt b5) at 25 degrees C displayed localized dynamics on the surface of the protein giving rise to the periodic formation of a cleft that provides access to the heme through a protected hydrophobic channel [Storch and Daggett (1995) Biochemistry 34, 9682]. Here we describe the production and testing of mutants designed to prevent the cleft from opening using a combination of experimental and theoretical techniques. Two mutants have been designed to close the surface cleft: S18D to introduce a salt bridge and S18C:R47C to incorporate a disulfide bond. The putative cleft forms between two separate cores of the protein: one is structural in nature and can be monitored through the fluorescence of Trp 22, and the other binds the heme prosthetic group and can be tracked via heme absorbance. An increase in motion localized to the cleft region was observed for each protein, except for the disulfide-containing variant, in MD simulations at 50 degrees C compared to simulations at 25 degrees C. For the disulfide-containing variant, the cleft remained closed. Both urea and temperature denaturation curves were nearly identical for wild-type and mutant proteins when heme absorbance was monitored. In contrast, fluorescence studies revealed oxidized S18C:R47C to be considerably more stable based on the midpoints of the denaturation transitions, Tm and U1/2. Moreover, the fluorescence changes for each protein were complete at approximately 50 degrees C and a urea concentration of approximately 3.9 M, significantly below the temperature and urea concentration (62 degrees C, 5 M urea) required to observe heme release. In addition, solvent accessibility based on acrylamide quenching of Trp 22 was lower in the S18C:R47C mutant, particularly at 50 degrees C, before heme release [presented in the accompanying paper (58)]. The results suggest that a constraining disulfide bond can be designed to inhibit dynamic cleft formation on the surface of cyt b5. Located near the heme, the native dynamics of the cleft may be functionally important for protein-protein recognition and/or complex stabilization.

Children's Attitudes Toward Peers With Unintelligible Speech Associated With Cleft Lip and/or Palate.

PubMed

Lee, Alice; Gibbon, Fiona E; Spivey, Kimberley

2017-05-01

  The objective of this study was to investigate whether reduced speech intelligibility in children with cleft palate affects social and personal attribute judgments made by typically developing children of different ages.   The study (1) measured the correlation between intelligibility scores of speech samples from children with cleft palate and social and personal attribute judgments made by typically developing children based on these samples and (2) compared the attitude judgments made by children of different ages. Participants   A total of 90 typically developing children, 30 in each of three age groups (7 to 8 years, 9 to 10 years, and 11 to 12 years).   Speech intelligibility scores and typically developing children's attitudes were measured using eight social and personal attributes on a three-point rating scale.   There was a significant correlation between the speech intelligibility scores and attitude judgments for a number of traits: "sick-healthy" as rated by the children aged 7 to 8 years, "no friends-friends" by the children aged 9 to 10 years, and "ugly-good looking" and "no friends-friends" by the children aged 11 to 12 years. Children aged 7 to 8 years gave significantly lower ratings for "mean-kind" but higher ratings for "shy-outgoing" when compared with the other two groups.   Typically developing children tended to make negative social and personal attribute judgments about children with cleft palate based solely on the intelligibility of their speech. Society, educators, and health professionals should work together to ensure that children with cleft palate are not stigmatized by their peers.

Nasalance Scores of Children with Repaired Cleft Palate Who Exhibit Normal Velopharyngeal Closure during Aerodynamic Testing

ERIC Educational Resources Information Center

Zajac, David J.

2013-01-01

Purpose: To determine if children with repaired cleft palate and normal velopharyngeal (VP) closure as determined by aerodynamic testing exhibit greater acoustic nasalance than control children without cleft palate. Method: Pressure-flow procedures were used to identify 2 groups of children based on VP closure during the production of /p/ in the…

Fourth-dimensional changes in nasolabial dimensions following rotation-advancement repair of unilateral cleft lip.

PubMed

Mulliken, John B; LaBrie, Richard A

2012-02-01

Repair of unilateral cleft lip requires three-dimensional craftsmanship and understanding four-dimensional changes. Ninety-nine children with unilateral complete or incomplete cleft lip were measured by direct anthropometry following rotation-advancement repair (intraoperatively) and again in childhood. Changes in heminasal width, labial height, and labial width were analyzed and compared measures depending on whether the cleft was incomplete/complete or involved left/right side. Average heminasal width (sn-al) was set 1 mm less on the cleft side and measured only 0.7 mm less at 6 years. Labial height (sn-cphi) was slightly greater on the cleft side at repair and matched the noncleft side at follow-up. Vertical dimension (sbal-cphi) was slightly less at operation; the percent change was the same on both sides. Transverse labial width (cphi-ch) was set short on the cleft side and lengthened disproportionately, resulting in less than 1 mm difference at 6 years. All anthropometric dimensions grew less in complete cleft lips compared with incomplete forms; however, only labial height and width were significantly different. There were no disparities in nasolabial growth between left- and right-sided cleft lips. Cleft side alar base drifts laterally and should be positioned slightly more medial and secured to nasalis or periosteum. Growth in labial height lags and, therefore, the repaired side should be equal to or slightly greater than on the normal side, particularly in a complete labial cleft. Transverse labial width grows more on the cleft side; thus, lateral Cupid's bow peak point can be marked closer to the commissure to match the labial height on the noncleft side. Therapeutic, IV.

Cleft Palate, Retrognathia and Congenital Heart Disease in Velo-Cardio-Facial Syndrome: A Phenotype Correlation Study

PubMed Central

Friedman, Marcia A.; Miletta, Nathanial; Roe, Cheryl; Wang, Dongliang; Morrow, Bernice E.; Kates, Wendy R.; Higgins, Anne Marie; Shprintzen, Robert J.

2011-01-01

Objective Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. Methods This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY. Each combination of congenital heart disease, cleft palates, and retrognathia was analyzed by chi square or Fisher exact test. Results For all categories of congenital heart disease and cleft palate or retrognathia no significant associations were found, with the exception of submucous cleft palate and retrognathia (nominal p=0.0325) and occult submucous cleft palate and retrognathia (nominal p=0.000013). Conclusions Congenital heart disease and cleft palate do not appear to be correlated in human subjects with VCFS despite earlier suggestions from animal models. Possible explanations include modification of the effect of TBX1 by genes outside of the 22q11.2 region that may further influence the formation of the palate or heart, or the presence of epigenetic factors that may effect genes within the deleted region, modifying genes elsewhere, or polymorphisms on the normal copy of chromosome 22. Lastly, it is possible that TBX1 plays a role in palate formation in some species, but not in humans. In VCFS, retrognathia is caused by an obtuse angulation of the skull base. It is unknown if the correlation between retrognathia and cleft palate in VCFS indicates a developmental sequence related to skull morphology, or direct gene effects of both anomalies. Much work remains to be done to fully understand the complex relationships between phenotypic characteristics in VCFS. PMID:21763005

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.

PubMed

Friedman, Marcia A; Miletta, Nathanial; Roe, Cheryl; Wang, Dongliang; Morrow, Bernice E; Kates, Wendy R; Higgins, Anne Marie; Shprintzen, Robert J

2011-09-01

Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY. Each combination of congenital heart disease, cleft palates, and retrognathia was analyzed by Chi square or Fisher exact test. For all categories of congenital heart disease and cleft palate or retrognathia no significant associations were found, with the exception of submucous cleft palate and retrognathia (nominal p=0.0325) and occult submucous cleft palate and retrognathia (nominal p=0.000013). Congenital heart disease and cleft palate do not appear to be correlated in human subjects with VCFS despite earlier suggestions from animal models. Possible explanations include modification of the effect of TBX1 by genes outside of the 22q11.2 region that may further influence the formation of the palate or heart, or the presence of epigenetic factors that may effect genes within the deleted region, modifying genes elsewhere, or polymorphisms on the normal copy of chromosome 22. Lastly, it is possible that TBX1 plays a role in palate formation in some species, but not in humans. In VCFS, retrognathia is caused by an obtuse angulation of the skull base. It is unknown if the correlation between retrognathia and cleft palate in VCFS indicates a developmental sequence related to skull morphology, or direct gene effects of both anomalies. Much work remains to be done to fully understand the complex relationships between phenotypic characteristics in VCFS. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Parental satisfaction in Ugandan children with cleft lip and palate following synchronous lip and palatal repair.

PubMed

Luyten, Anke; D'haeseleer, Evelien; Budolfsen, Dorte; Hodges, Andrew; Galiwango, George; Vermeersch, Hubert; Van Lierde, Kristiane

2013-01-01

The purpose of the present case control study was to assess parental satisfaction with speech and facial appearance in Ugandan children with complete unilateral or bilateral cleft lip and palate (CLP), who underwent a synchronous lip and palatal closure. The results are compared with an age- and gender-matched control group. The experimental group consisted of the parents or guardians of 44 Ugandan patients (21 males, 23 females) with complete unilateral or bilateral CLP (mean age: 3;1 years). The control group included the foster mothers of 44 orphan children matched by age and gender (mean age: 3;7 years). A survey based on the Cleft Evaluation Profile was used to assess the perceived satisfaction for individual features related to cleft care. Overall high levels of satisfaction were observed in the experimental group for all features (range: 56-100%). No significant differences could be established regarding age, gender, age of lip and palatal closure, cleft type or maternal vs. paternal judgments. In participants who were dissatisfied with the appearance of the lip, the time period between the cleft closure and the survey was significantly larger compared with satisfied participants. Furthermore, significantly lower levels of satisfaction were observed in the cleft group for speech and the appearance of the teeth and the nose compared with the control group. Satisfaction with speech and facial appearance in Ugandan children with cleft lip and/or palate is important since normal esthetics and speech predominantly determine the children's social acceptance in the Ugandan society. As a result of reading this manuscript, the reader will be able to explain the attitudes of parents toward the surgical repair of their children's cleft lip and palate. As a result of reading this manuscript, the reader will be able to identify differences in parental attitudes toward synchronous lip and palate repair. Copyright © 2013 Elsevier Inc. All rights reserved.

Cleft lip and palate: a descriptive comparative, retrospective, and prospective study of patients with cleft deformities managed at 2 hospitals in Kenya.

PubMed

Wanjeri, Joseph Kimani; Wachira, John Makanga

2009-09-01

This was a combined retrospective and prospective study in which 2 sets of results from 2 hospitals in Nairobi were analyzed and compared. The retrospective study was conducted at Kenyatta National Hospital, whereas the prospective study was conducted at Metropolitan Hospital.The main objective of the study was to establish the presentation and pattern of patients with cleft lip and palate and complications of repair at the 2 hospitals.In the retrospective arm of the study, files of all patients presenting with clefts at Kenyatta National Hospital between January 1998 and December 2007 were retrieved, and a questionnaire was filled out for each of them, whereas all patients seen and operated on for clefts at the Metropolitan Hospital from January 2007 to October 2008 were recruited into the prospective study.There was a predominance of male participants in both studies, and most clefts were on the left side. The retrospective and prospective studies had positive family history in 3.5% and 30.9%, respectively. Associated congenital malformations were 8.2% for the retrospective study and 25% for the prospective study. In both studies, the central province had the largest number of clefts, whereas the coast province had very few.Cleft lip and palate is a significant congenital malformation in Kenya, and there seems to be a higher incidence of familial tendency and associated congenital malformations than that reported elsewhere.

Clefts of the lip and palate: is the Internet a trustworthy source of information for patients?

PubMed

Karamitros, G A; Kitsos, N A

2018-04-02

Great numbers of patients use the Internet to obtain information and familiarize themselves with medical conditions. However, the quality of Internet-based information on clefts of the lip and palate has not yet been examined. The goal of this study was to assess the quality of Internet-based patient information on orofacial clefts. Websites were evaluated based on the modified Ensuring Quality Information for Patients (EQIP) instrument (36 items). Three hundred websites were identified using the most popular search engines. Of these, 146 were assessed after the exclusion of duplicates, irrelevant sites, and web pages in languages other than English. Thirty-four (23.2%) web pages, designed mostly by academic centres and hospitals, covered more than 22 items and were classified as high-score websites. The EQIP score achieved by websites ranged between 4 and 30, out of a total possible 36 points; the median score was 19 points. The top five high-scoring web pages are highlighted. The overall quality of Internet-based patient information on orofacial clefts is low. Also, the majority of web pages created by medical practitioners have a marketing perspective and in order to attract more patients/customers avoid mentioning the risks of the reconstructive procedures needed. Copyright © 2018 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Variations in Velopharyngeal Structure in Adults With Repaired Cleft Palate.

PubMed

Perry, Jamie L; Kotlarek, Katelyn J; Sutton, Bradley P; Kuehn, David P; Jaskolka, Michael S; Fang, Xiangming; Point, Stuart W; Rauccio, Frank

2018-01-01

The purpose of this study was to examine differences in velopharyngeal structures between adults with repaired cleft palate and normal resonance and adults without cleft palate. Thirty-six English-speaking adults, including 6 adults (2 males and 4 females) with repaired cleft palate (M = 32.5 years of age, SD = 17.4 years) and 30 adults (15 males and 15 females) without cleft palate (M = 23.3 years of age, SD = 4.1 years), participated in the study. Fourteen velopharyngeal measures were obtained on magnetic resonance images and compared between groups (cleft and noncleft). After adjusting for body size and sex effects, there was a statistically significant difference between groups for 10 out of the 14 velopharyngeal measures. Compared to those without cleft palate, participants with repaired cleft palate had a significantly shorter hard palate height and length, shorter levator muscle length, shorter intravelar segment, more acute levator angles of origin, shorter and thinner velum, and greater pharyngeal depth. Although significant differences were evident in the cleft palate group, individuals displayed normal resonance. These findings suggest that a wide variability in velopharyngeal anatomy can occur in the presence of normal resonance, particularly for those with repaired cleft palate. Future research is needed to understand how anatomic variability impacts function, such as during speech.

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

PubMed

Tan, Ene-Choo; Lim, Eileen Chew-Ping; Yap, Shiao-Hui; Lee, Seng-Teik; Cheng, Joanne; Por, Yong-Chen; Yeow, Vincent

2008-06-01

Van der Woude syndrome is the most common cause of syndromic orofacial clefting. It is characterised by the presence of lip pits, cleft lip and/or cleft palate. It is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity. Several mutations in the interferon regulatory factor 6 (IRF6) gene have been found in VWS families, suggesting that this gene is the primary locus. We screened for mutations in this gene in three families in our population. There was a recurrent nonsense mutation within exon 9 of the gene for a Malay family consisting of five affected members with different presentations. We also found a co-segregating rare polymorphism which would result in a non-synonymous change 23 bases downstream of the nonsense mutation. This polymorphism was present in <1% of the Malay subjects screened, but was not found among the Chinese and Indians in our population. For another family, a 396C-->T mutation (R45W in the DNA-binding domain) was found in the proband, although the possibility of a genetic defect elsewhere could not be excluded because his mother and twin sister (both unaffected) also had this variant. In the third case with complete absence of family history, a de novo deletion spanning the whole IRF6 gene was detected in the child with VWS. This case of haploinsufficiency caused disruption of orofacial development but not other organ systems as the child has no other medical or developmental abnormalities despite the deletion of at least five other genes.

Tobacco smoking and oral clefts: a meta-analysis.

PubMed Central

Little, Julian; Cardy, Amanda; Munger, Ronald G.

2004-01-01

OBJECTIVE: To examine the association between maternal smoking and non-syndromic orofacial clefts in infants. METHODS: A meta-analysis of the association between maternal smoking during pregnancy was carried out using data from 24 case-control and cohort studies. FINDINGS: Consistent, moderate and statistically significant associations were found between maternal smoking and cleft lip, with or without cleft palate (relative risk 1.34, 95% confidence interval 1.25-1.44) and between maternal smoking and cleft palate (relative risk 1.22, 95% confidence interval 1.10-1.35). There was evidence of a modest dose-response effect for cleft lip with or without cleft palate. CONCLUSION: The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns. PMID:15112010

Three-dimensional Imaging Methods for Quantitative Analysis of Facial Soft Tissues and Skeletal Morphology in Patients with Orofacial Clefts: A Systematic Review

PubMed Central

Kuijpers, Mette A. R.; Chiu, Yu-Ting; Nada, Rania M.; Carels, Carine E. L.; Fudalej, Piotr S.

2014-01-01

Background Current guidelines for evaluating cleft palate treatments are mostly based on two-dimensional (2D) evaluation, but three-dimensional (3D) imaging methods to assess treatment outcome are steadily rising. Objective To identify 3D imaging methods for quantitative assessment of soft tissue and skeletal morphology in patients with cleft lip and palate. Data sources Literature was searched using PubMed (1948–2012), EMBASE (1980–2012), Scopus (2004–2012), Web of Science (1945–2012), and the Cochrane Library. The last search was performed September 30, 2012. Reference lists were hand searched for potentially eligible studies. There was no language restriction. Study selection We included publications using 3D imaging techniques to assess facial soft tissue or skeletal morphology in patients older than 5 years with a cleft lip with/or without cleft palate. We reviewed studies involving the facial region when at least 10 subjects in the sample size had at least one cleft type. Only primary publications were included. Data extraction Independent extraction of data and quality assessments were performed by two observers. Results Five hundred full text publications were retrieved, 144 met the inclusion criteria, with 63 high quality studies. There were differences in study designs, topics studied, patient characteristics, and success measurements; therefore, only a systematic review could be conducted. Main 3D-techniques that are used in cleft lip and palate patients are CT, CBCT, MRI, stereophotogrammetry, and laser surface scanning. These techniques are mainly used for soft tissue analysis, evaluation of bone grafting, and changes in the craniofacial skeleton. Digital dental casts are used to evaluate treatment and changes over time. Conclusion Available evidence implies that 3D imaging methods can be used for documentation of CLP patients. No data are available yet showing that 3D methods are more informative than conventional 2D methods. Further research is warranted to elucidate it. Systematic review registration International Prospective Register of Systematic Reviews, PROSPERO CRD42012002041 PMID:24710215

Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft.

PubMed

Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-04-23

Objective :  The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design :  Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants :  Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results :  Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion :  Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft.

PubMed

Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-11-01

Objective : The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design : Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants : Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results : Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion : Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Velopharyngeal function of patients with cleft palate after primary palatoplasty: relevance of sex, age, and cleft type.

PubMed

Yang, Yunqiang; Li, Yang; Wu, Yeke; Gu, Yifei; Yin, Heng; Long, Hu; Shi, Bing; Zheng, Qian

2013-05-01

The aim of this study was to investigate the relevance of sex, age, and cleft type to velopharyngeal function after primary Sommerlad palatoplasty so as to improve velopharyngeal function after the procedure. Records of 503 patients with nonsyndromic cleft palate after primary Sommerlad palatoplasty were included in the retrospective study. Relevance between their velopharyngeal function and sex, age, and cleft type was analyzed. Statistical analysis was performed using SPSS 13.0 (SPSS Inc., Chicago, IL). There were no significant differences of velopharyngeal competence (VPC) rates between different sexes (P = 0.635). Specifically, VPC rates were significantly higher in younger-than-2-years groups than in older age groups (P < 0.05) and significantly lower in 6-years-or-older group (P < 0.05). No differences were found among 2- to 6-year-old groups (P > 0.05). The VPC rates were significantly lower in the bilateral complete cleft palate and the unilateral complete cleft palate than in the incomplete cleft palate before 2 years old (P < 0.05), whereas there were no significant differences totally (P = 0.875). Results showed that the disparity of the VPC rate among different cleft types would decrease with age. Moreover, results of multivariate logistic regression also indicated that operation age and cleft type are factors influencing velopharyngeal function. Primary palatoplasty should be completed before 2 years old, and the postoperative velopharygeal function will greatly decreases after 6 years old. The influence of cleft type on velopharyngeal function is limited to young patients. For those who have missed the best surgical timing, appropriate delay of operation age is reasonable, especially for patients with complete cleft palate. For patients 4 to 6 years old, the first choice is still simple palatoplasty no matter which cleft type they are classified into.

[Nasolabial muscle finite-element study and clinical application].

PubMed

Yin, Ningbei; Wu, Jiajun; Chen, Bo; Wang, Yongqian; Song, Tao; Ma, Hengyuan

2015-05-01

To investigate the nasolabial muscle anatomy and biomechanical characteristics. Micro-computed tomography scan was performed in 8 cases of spontaneous abortion fetus lip nasal specimens to construct a three-dimensional model. The nasolabial muscle structure was analyzed using Mimics software. The three-dimensional configuration model of nasolabial muscle was established based on local anatomy and tissue section, and compared with tissue section. Three dimensional finite element analysis was performed on lip nasal muscle related biomechanics and surface deformation in Application verification was carried out in 263 cases of microform cleft lip surgery. There was close relationship between nasolabial muscle. The nasolabial muscle tension system was constituted, based on which a new cleft lip repair surgery was designed and satisfied results were achieved. There is close relationship among nasolabial muscle in anatomy, histology and biomechanics. To obtain better effect, cleft lip repair should be performed on the basis of recovering muscle tension system.

Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

PubMed

Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

2016-08-15

Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts. Copyright © 2016. Published by Elsevier B.V.

Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases.

PubMed

Spinelli, C; Rossi, L; Strambi, S; Piscioneri, J; Natale, G; Bertocchini, A; Messineo, A

2016-05-01

Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients. We conducted a retrospective analysis of a total of 50 pediatric patients operated from June 2005 to June 2014 for the presence of branchial cleft anomalies. 27 cases (54 %) presented a second branchial cleft fistula and 11 cases (22 %) a second branchial cleft cyst and one case (2 %) presented both cyst and sinus of the second branchial cleft; four cases (8 %) presented first branchial cleft cyst whereas four cases (8 %) a first branchial cleft sinus and two cases (4 %) a first branchial cleft fistula; one case (2 %) presented a piriform sinus fistula (third branchial cleft). None of our patients presented anomalies of the fourth branchial cleft. All patients underwent surgical treatment and lesions have been removed by excision or fistulectomy. No post-surgical complication occurred. The rate of recurrence was 4 %. Pre-operative diagnosis supplies important information to the surgeon for a proper therapy: a complete excision of the lesion without inflammatory signs is essential to avoid re-intervention and to achieve a good outcome.

Longitudinal Comparison of the Speech and Language Performance of United States-Born and Internationally Adopted Toddlers with Cleft Lip and Palate: A Pilot Study.

PubMed

Scherer, Nancy J; Baker, Shauna; Kaiser, Ann; Frey, Jennifer R

2018-01-01

Objective This study compares the early speech and language development of children with cleft palate with or without cleft lip who were adopted internationally with children born in the United States. Design Prospective longitudinal description of early speech and language development between 18 and 36 months of age. Participants This study compares four children (age range = 19 to 38 months) with cleft palate with or without cleft lip who were adopted internationally with four children (age range = 19 to 38 months) with cleft palate with or without cleft lip who were born in the United States, matched for age, gender, and cleft type across three time points over 10 to 12 months. Main Outcome Measures Children's speech-language skills were analyzed using standardized tests, parent surveys, language samples, and single-word phonological assessments to determine differences between the groups. Results The mean scores for the children in the internationally adopted group were lower than the group born in the United States at all three time points for expressive language and speech sound production measures. Examination of matched pairs demonstrated observable differences for two of the four pairs. No differences were observed in cognitive performance and receptive language measures. Conclusions The results suggest a cumulative effect of later palate repair and/or a variety of health and environmental factors associated with their early circumstances that persist to age 3 years. Early intervention to address the trajectory of speech and language is warranted. Given the findings from this small pilot study, a larger study of the long-term speech and language development of children who are internationally adopted and have cleft palate with or without cleft lip is recommended.

Parental risk factors for oral clefts among Central Africans, Southeast Asians, and Central Americans

PubMed Central

Ly, Stephanie; Magee, Kathleen S.; Ihenacho, Ugonna; Baurley, James W.; Sanchez‐Lara, Pedro A.; Brindopke, Frederick; Nguyen, Thi‐Hai‐Duc; Nguyen, Viet; Tangco, Maria Irene; Giron, Melissa; Abrahams, Tamlin; Jang, Grace; Vu, Annie; Zolfaghari, Emily; Yao, Caroline A.; Foong, Athena; DeClerk, Yves A.; Samet, Jonathan M.; Magee, William

2015-01-01

Background Several lifestyle and environmental exposures have been suspected as risk factors for oral clefts, although few have been convincingly demonstrated. Studies across global diverse populations could offer additional insight given varying types and levels of exposures. Methods We performed an international case–control study in the Democratic Republic of the Congo (133 cases, 301 controls), Vietnam (75 cases, 158 controls), the Philippines (102 cases, 152 controls), and Honduras (120 cases, 143 controls). Mothers were recruited from hospitals and their exposures were collected from interviewer‐administered questionnaires. We used logistic regression modeling to estimate odds ratios (OR) and 95% confidence intervals (CI). Results Family history of clefts was strongly associated with increased risk (maternal: OR = 4.7; 95% CI, 3.0–7.2; paternal: OR = 10.5; 95% CI, 5.9–18.8; siblings: OR = 5.3; 95% CI, 1.4–19.9). Advanced maternal age (5 year OR = 1.2; 95% CI, 1.0–1.3), pregestational hypertension (OR = 2.6; 95% CI, 1.3–5.1), and gestational seizures (OR = 2.9; 95% CI, 1.1–7.4) were statistically significant risk factors. Lower maternal (secondary school OR = 1.6; 95% CI, 1.2–2.2; primary school OR = 2.4, 95% CI, 1.6–2.8) and paternal education (OR = 1.9; 95% CI, 1.4–2.5; and OR = 1.8; 95% CI, 1.1–2.9, respectively) and paternal tobacco smoking (OR = 1.5, 95% CI, 1.1–1.9) were associated with an increased risk. No other significant associations between maternal and paternal factors were found; some environmental factors including rural residency, indoor cooking with wood, chemicals and water source appeared to be associated with an increased risk in adjusted models. Conclusion Our study represents one of the first international studies investigating risk factors for clefts among multiethnic underserved populations. Our findings suggest a multifactorial etiology including both maternal and paternal factors. Birth Defects Research (Part A) 103:863–879, 2015. © 2015 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:26466527

Parental risk factors for oral clefts among Central Africans, Southeast Asians, and Central Americans.

PubMed

Figueiredo, Jane C; Ly, Stephanie; Magee, Kathleen S; Ihenacho, Ugonna; Baurley, James W; Sanchez-Lara, Pedro A; Brindopke, Frederick; Nguyen, Thi-Hai-Duc; Nguyen, Viet; Tangco, Maria Irene; Giron, Melissa; Abrahams, Tamlin; Jang, Grace; Vu, Annie; Zolfaghari, Emily; Yao, Caroline A; Foong, Athena; DeClerk, Yves A; Samet, Jonathan M; Magee, William

2015-10-01

Several lifestyle and environmental exposures have been suspected as risk factors for oral clefts, although few have been convincingly demonstrated. Studies across global diverse populations could offer additional insight given varying types and levels of exposures. We performed an international case-control study in the Democratic Republic of the Congo (133 cases, 301 controls), Vietnam (75 cases, 158 controls), the Philippines (102 cases, 152 controls), and Honduras (120 cases, 143 controls). Mothers were recruited from hospitals and their exposures were collected from interviewer-administered questionnaires. We used logistic regression modeling to estimate odds ratios (OR) and 95% confidence intervals (CI). Family history of clefts was strongly associated with increased risk (maternal: OR = 4.7; 95% CI, 3.0-7.2; paternal: OR = 10.5; 95% CI, 5.9-18.8; siblings: OR = 5.3; 95% CI, 1.4-19.9). Advanced maternal age (5 year OR = 1.2; 95% CI, 1.0-1.3), pregestational hypertension (OR = 2.6; 95% CI, 1.3-5.1), and gestational seizures (OR = 2.9; 95% CI, 1.1-7.4) were statistically significant risk factors. Lower maternal (secondary school OR = 1.6; 95% CI, 1.2-2.2; primary school OR = 2.4, 95% CI, 1.6-2.8) and paternal education (OR = 1.9; 95% CI, 1.4-2.5; and OR = 1.8; 95% CI, 1.1-2.9, respectively) and paternal tobacco smoking (OR = 1.5, 95% CI, 1.1-1.9) were associated with an increased risk. No other significant associations between maternal and paternal factors were found; some environmental factors including rural residency, indoor cooking with wood, chemicals and water source appeared to be associated with an increased risk in adjusted models. Our study represents one of the first international studies investigating risk factors for clefts among multiethnic underserved populations. Our findings suggest a multifactorial etiology including both maternal and paternal factors. © 2015 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.

Initial counselling for cleft lip and palate: parents' evaluation, needs and expectations.

PubMed

Kuttenberger, J; Ohmer, J N; Polska, E

2010-03-01

During the first counselling after the birth of a child with cleft lip and palate (CLP) information about the malformation should be delivered and a long-standing relationship between the cleft team and the affected family must be established. The present study was conducted to evaluate the parents' experiences, needs and expectations with this first consultation. A questionnaire was sent to 105 parents at the cleft clinic, which could be answered anonymously. It collected demographic data, data on the parents' pre-existing level of information and the parents' assessment of the counselling at the cleft centre. Seventy percent of the questionnaires were returned. In 16% the clefts were diagnosed prenatally, in 32% there were relatives with clefts. Seventy-one percent of the parents received detailed counselling, 89% of which occurred in the first week. The parents requested that information about surgery (80%), feeding the child (63%) and the aetiology of clefts (44%) should be given. The quality of the consultation was rated very good or good by 87% of families. This study confirms the importance of initial counselling for CLP. The exceptional psychological situation of the family has to be considered and a close collaboration between cleft centre and maternity hospitals is mandatory.

Arrangement of the orbicularis oris muscle in different types of cleft lips.

PubMed

Wijayaweera, C J; Amaratunga, N A; Angunawela, P

2000-05-01

A thorough knowledge of the anatomy of the labial region, especially the arrangement of the muscle fibers, is essential for the success of primary repair of the cleft lip. Pared lateral and medial edges from 20 unilateral incomplete cleft lips and 25 unilateral complete cleft lips were obtained during primary surgery. Three specimens of normal lips were taken from unclaimed infant cadavers as the controls. They were prepared for routine histological studies and were examined to study the direction of muscle fibers. Intrinsic and extrinsic bundles were identified in both lateral and medial sides of specimens of both cleft types. The intrinsic bundle was not displaced but was interrupted by the cleft. The extrinsic bundle in the lateral side of both cleft types ran upward along the lateral cleft margin, whereas in the medial side it ran horizontally to terminate close to the medial cleft margin. The extrinsic bundle is the retractor, which is associated with facial expression, whereas the intrinsic bundle is the constrictor of the mouth. Because there are two functional components in the orbicularis oris muscle, identifying and repairing them separately will enable each of them to accomplish their distinctive functions.

Three-Dimensional Cone Beam Computed Tomography Volumetric Outcomes of rhBMP-2/Demineralized Bone Matrix versus Iliac Crest Bone Graft for Alveolar Cleft Reconstruction.

PubMed

Liang, Fan; Yen, Stephen L-K; Imahiyerobo, Thomas; Sanborn, Luke; Yen, Leia; Yen, Daniel; Nazarian, Sheila; Jedrzejewski, Breanna; Urata, Mark; Hammoudeh, Jeffrey

2017-10-01

Recent studies indicate that recombinant human bone morphogenetic protein-2 (rhBMP-2) in a demineralized bone matrix scaffold is a comparable alternative to iliac bone autograft in the setting of secondary alveolar cleft repair. Postreconstruction occlusal radiographs demonstrate improved bone stock when rhBMP-2/demineralized bone matrix (DBM) scaffold is used but lack the capacity to evaluate bone growth in three dimensions. This study uses cone beam computed tomography to provide the first clinical evaluation of volumetric and density comparisons between these two treatment modalities. A prospective study was conducted with 31 patients and 36 repairs of the alveolar cleft over a 2-year period. Twenty-one repairs used rhBMP-2/DBM scaffold and 14 repairs used iliac bone grafting. Postoperatively, occlusal radiographs were obtained at 3 months to evaluate bone fill; cone beam computed tomographic images were obtained at 6 to 9 months to compare volumetric and density data. At 3 months, postoperative occlusal radiographs demonstrated that 67 percent of patients receiving rhBMP-2/DBM scaffold had complete bone fill of the alveolus, versus 56 percent of patients in the autologous group. In contrast, cone beam computed tomographic data showed 31.6 percent (95 percent CI, 24.2 to 38.5 percent) fill in the rhBMP-2 group compared with 32.5 percent (95 percent CI, 22.1 to 42.9 percent) in the autologous population. Density analysis demonstrated identical average values between the groups (1.38 g/cc). These data demonstrate comparable bone regrowth and density values following secondary alveolar cleft repair using rhBMP-2/DBM scaffold versus autologous iliac bone graft. Cone beam computed tomography provides a more nuanced understanding of true bone regeneration within the alveolar cleft that may contribute to the information provided by occlusal radiographs alone. Therapeutic, II.

Lobe-cleft instability in the buoyant gravity current generated by estuarine outflow

NASA Astrophysics Data System (ADS)

Horner-Devine, Alexander R.; Chickadel, C. Chris

2017-05-01

Gravity currents represent a broad class of geophysical flows including turbidity currents, powder avalanches, pyroclastic flows, sea breeze fronts, haboobs, and river plumes. A defining feature in many gravity currents is the formation of three-dimensional lobes and clefts along the front and researchers have sought to understand these ubiquitous geophysical structures for decades. The prevailing explanation is based largely on early laboratory and numerical model experiments at much smaller scales, which concluded that lobes and clefts are generated due to hydrostatic instability exclusively in currents propagating over a nonslip boundary. Recent studies suggest that frontal dynamics change as the flow scale increases, but no measurements have been made that sufficiently resolve the flow structure in full-scale geophysical flows. Here we use thermal infrared and acoustic imaging of a river plume to reveal the three-dimensional structure of lobes and clefts formed in a geophysical gravity current front. The observed lobes and clefts are generated at the front in the absence of a nonslip boundary, contradicting the prevailing explanation. The observed flow structure is consistent with an alternative formation mechanism, which predicts that the lobe scale is inherited from subsurface vortex structures.

Taila Dāha (Cauterization with Oil) an Innovative Approach in Pilonidal Sinus.

PubMed

Tripathy, Rabinarayan; John, Neelima Sherly; Vijayalekshmi, Sreedevi; Nair, Nj Anuja; Pasupalan, Suresh

2016-01-01

Summary : Pilonidal sinus is a chronic inflammatory track in mid gluteal cleft usually associated with hairs with an incidence rate of twenty six per one lakh population. It is more prevalently seen in the natal cleft of hairy middle aged obese, males. Such type of non-healing tracts may be considered as Nāḍivraṇa (Sinuses) and can either be treated by the conventional Kṣārasūtra (medicated seton) therapy or contemporary treatment methods. Irrespective of whatsoever management protocol adopted, it inevitably needs long term hospitalisation and is associated with complications. A case of a 28 year old male patient, presenting with pain (within tolerable limits) in the natal cleft and frequent occurrence of a pustule which burst out spontaneously on and off, diagnosed as pilonidal sinus ( nāḍi vraṇa ) was treated with excision of tract and Tailadāha (thermal cauterization with hot oil) with a combination of yaṣṭimadhu taila and powdered Copper Sulphate (CuSO 4 ). Good haemostasis and uneventful wound healing with a minimally invasive and cost effective treatment was the outcome of study. This study represents an innovative treatment modality in pilonidal sinus.

Bony defect of palate and vomer in submucous cleft palate patients.

PubMed

Ren, S; Ma, L; Zhou, X; Sun, Z

2015-01-01

The aim of this study was to visualize bony defects of the palate and vomer in submucous cleft palate patients (SMCP) by three-dimensional (3D) computed tomography (CT) reconstruction and to classify the range of bony defects. Forty-eight consecutive non-operated SMCP patients were included. Diagnosis was based on the presence of at least one of three classical signs of SMCP: bifid uvula, a translucent zone in the midline of the soft palate, and a palpable 'V' notch on the posterior border of the bony palate. Patients were imaged using spiral CT. 3D reconstruction models were created of the palate and vomer. The sagittal extent of the bony cleft in SMCP was classified into four types: type I, no V-shaped hard palate cleft (8.3%); type II, cleft involving the partial palate (43.8%); type III, cleft involving the complete palate and extending to the incisive foramen (43.8%); type IV, cleft involving the complete palate and the alveolar bone (4.2%). The extent of the vomer defect was classified into three types: type A, vomer completely fused with the palate (8.3%); type B, vomer partially fused with the palate (43.8%); type C, vomer not fused with the palate up to the incisive foramen (47.9%). Significant variability in hard palate defects in SMCP is the rule rather than the exception. The association of velopharyngeal insufficiency with anatomical malformations may be complex. Copyright © 2014 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Preoperative Cleft Lip Measurements and Maxillary Growth in Patients With Unilateral Cleft Lip and Palate.

PubMed

Antonarakis, Gregory S; Tompson, Bryan D; Fisher, David M

2016-11-01

Maxillary growth in patients with cleft lip and palate is highly variable. The authors' aim was to investigate associations between preoperative cleft lip measurements and maxillary growth determined cephalometrically in patients with complete unilateral cleft lip and palate (cUCLP). Retrospective cross-sectional study. Children with cUCLP. Preoperative cleft lip measurements were made at the time of primary cheiloplasty and available for each patient. Maxillary growth was evaluated on lateral cephalometric radiographs taken prior to any orthodontic treatment and alveolar bone grafting (8.5 ± 0.7 years). The presence of associations between preoperative cleft lip measurements and cephalometric measures of maxillary growth was determined using regression analyses. In the 58 patients included in the study, the cleft lateral lip element was deficient in height in 90% and in transverse width in 81% of patients. There was an inverse correlation between cleft lateral lip height and transverse width with a β coefficient of -0.382 (P = .003). Patients with a more deficient cleft lateral lip height displayed a shorter maxillary length (β coefficient = 0.336; P = .010), a less protruded maxilla (β coefficient = .334; P = .008), and a shorter anterior maxillary height (β coefficient = 0.306; P = .020) than those with a less deficient cleft lateral lip height. Patients with cUCLP present with varying degrees of lateral lip hypoplasia. Preoperative measures of lateral lip deficiency are related to later observed deficiencies of maxillary length, protrusion, and height.

The impact of congenital cardiovascular malformations on the assessment and surgical management of infants with cleft lip and/or palate.

PubMed

Harry, Brian L; TeBockhorst, Seth; Deleyiannis, Frederic W-B

2013-05-01

The purpose of this study was to assess the cardiac evaluation of cleft lip and/or palate patients, characterize their cardiovascular malformations, and determine the impact of cardiovascular malformations on surgical management. A single-institution retrospective study of 329 consecutive cleft patients was performed. Cardiovascular malformations were categorized according to involvement of cardiac septa, vasculature, and valves. Their impact on the need for cardiac surgery, timing of cleft repair, need for subacute bacterial endocarditis (SBE) prophylaxis, and the perioperative experience was evaluated. Ten percent (33/329) of cleft patients had a cardiovascular malformation, and 3% underwent cardiac surgery prior to cleft repair. Malformations of the septa, vasculature, and valves were present in 9%, 6%, and 2% of cleft infants, respectively. Murmur as a sign of structural cardiovascular disease was 79% sensitive and 97% specific. Cleft palate repair was delayed by 2 months in patients with a cardiovascular malformation (P = .001). Subacute bacterial endocarditis prophylaxis was recommended, not recommended, or not specified by cardiology in 18%, 33%, and 48% of cleft patients with a cardiovascular malformation, respectively. Postoperative stay and surgical complications were not associated with cardiovascular malformation. Even in the absence of a murmur, echocardiographic screening should be considered in infants with nonspecific signs of cardiovascular disease. Greater awareness of the guidelines for SBE prophylaxis is needed. Most cleft patients with a cardiovascular malformation do not require cardiac surgery and do not experience an increased rate of complications associated with cleft surgery.

A Survey of Congenital Heart Disease and Other Organic Malformations Associated with Different Types of Orofacial Clefts in Eastern China

PubMed Central

Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

Background A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. Methodology and Principal Findings All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1st Jan 2009 and 30th Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (P<0.01). In subgroups, unilateral cleft lip and palate had a statistically higher incidence of associated abnormalities than bilateral cleft lip and palate (P<0.01). The most common malformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. Conclusions and Significance As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed. PMID:23349958

A survey of congenital heart disease and other organic malformations associated with different types of orofacial clefts in Eastern China.

PubMed

Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1(st) Jan 2009 and 30(th) Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (P<0.01). In subgroups, unilateral cleft lip and palate had a statistically higher incidence of associated abnormalities than bilateral cleft lip and palate (P<0.01). The most common malformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed.

Maxillary growth in a congenital cleft palate canine model for surgical research.

PubMed

Paradas-Lara, Irene; Casado-Gómez, Inmaculada; Martín, Conchita; Martínez-Sanz, Elena; López-Gordillo, Yamila; González, Pablo; Rodríguez-Bobada, Cruz; Chamorro, Manuel; Arias, Pablo; Maldonado, Estela; Ortega, Ricardo; Berenguer, Beatriz; Martínez-Álvarez, Concepción

2014-01-01

We have recently presented the Old Spanish Pointer dog, with a 15-20% spontaneous congenital cleft palate rate, as a unique experimental model of this disease. This study aimed to describe the cleft palate of these dogs for surgical research purposes and to determine whether congenital cleft palate influences maxillofacial growth. Seven newborn Old Spanish Pointer dogs of both sexes, comprising a cleft palate group (n = 4) and a normal palate group (n = 3), were fed using the same technique. Macroscopic photographs and plaster casts from the palate, lateral radiographs and computer tomograms of the skull were taken sequentially over 41 weeks, starting at week 5. The cleft morphology, the size and the tissue characteristics in these dogs resembled the human cleft better than current available animal models. During growth, the cleft width varies. Most of the transverse and longitudinal measures of the palate were statistically lower in the cleft palate group. The cleft palate group showed hypoplasia of the naso-maxillary complex. This model of congenital cleft palate seems suitable for surgical research purposes. A reduced maxillofacial pre- and post-natal development is associated to the congenital cleft palate in the Old Spanish Pointer dog. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Dental materials for cleft palate repair.

PubMed

Sharif, Faiza; Ur Rehman, Ihtesham; Muhammad, Nawshad; MacNeil, Sheila

2016-04-01

Numerous bone and soft tissue grafting techniques are followed to repair cleft of lip and palate (CLP) defects. In addition to the gold standard surgical interventions involving the use of autogenous grafts, various allogenic and xenogenic graft materials are available for bone regeneration. In an attempt to discover minimally invasive and cost effective treatments for cleft repair, an exceptional growth in synthetic biomedical graft materials have occurred. This study gives an overview of the use of dental materials to repair cleft of lip and palate (CLP). The eligibility criteria for this review were case studies, clinical trials and retrospective studies on the use of various types of dental materials in surgical repair of cleft palate defects. Any data available on the surgical interventions to repair alveolar or palatal cleft, with natural or synthetic graft materials was included in this review. Those datasets with long term clinical follow-up results were referred to as particularly relevant. The results provide encouraging evidence in favor of dental and other related biomedical materials to fill the gaps in clefts of lip and palate. The review presents the various bones and soft tissue replacement strategies currently used, tested or explored for the repair of cleft defects. There was little available data on the use of synthetic materials in cleft repair which was a limitation of this study. In conclusion although clinical trials on the use of synthetic materials are currently underway the uses of autologous implants are the preferred treatment methods to date. Copyright © 2015 Elsevier B.V. All rights reserved.

An outcome study of a 2-flap pushback palatoplasty used in the treatment of wide cleft palates.

PubMed

Lin, Kant Y; Black, Jonathan S; Wang, Jessica S; Kerpelman, Jocelyn; Ho, Thuy-Van Tina; Borowitz, Kathleen

2015-05-01

Cleft palate remains a common congenital deformity. The wide cleft palate in particular presents a unique challenge when attempting to restore a competent velopharyngeal mechanism. We present an outcome study of a single surgeon's experience using a modified surgical technique designed to specifically address the wide cleft palate. The surgical technique consisted of a 2-flap pushback palatoplasty without nasal mucosa closure combined with an end-to-end intravelar veloplasty and was used in cleft palates greater than or equal to 10 mm in width. A retrospective, longitudinal outcome study from chart review was then performed where age at surgery, sex, Veau classification of the cleft type, and follow-up length were recorded for each patient. Postsurgery speech outcomes were assessed by standardized speech evaluation performed by a speech language pathologist, and the presence and location of unplanned oronasal fistulas were recorded. Our study revealed an overall incidence of velopharyngeal insufficiency (VPI) of 10.8% and an unplanned symptomatic fistula rate of 16.8%. There was a significant correlation between the Veau classification of the cleft type with the incidence of both VPI and the occurrence of an unplanned oronasal fistula. Application of this surgical technique, specifically to wider cleft palates, resulted in VPI and fistula rates comparable to rates reported with other techniques used in clefts of all widths. Additional information regarding subsequent growth disturbances of the craniofacial skeleton in these patients is currently being collected.

Psychosocial acceptance of cleft patients: has something changed?

PubMed

Pausch, Niels Christian; Winter, Karsten; Halama, Dirk; Wirtz, Christian; Yildirim, Vedat; Sirintawat, Nattapong; Nattapong, Sirintawat

2016-03-01

The main purpose of this study was to analyse the reactions of a panel (non-cleft adults) when observing cleft lip morphology. Although rehabilitation of cleft lip and palate is improving, there are still indications of social rejection of cleft patients by the people around them. Polarity profiles have been used since 1973 to measure social distance with regard to cleft patients. Because rehabilitation results and education of the society have improved in recent decades, we investigated whether social distance has been affected. The setting of this study is the Department of Oral, Craniomaxillofacial, and Facial Plastic Surgery, University Hospital of Leipzig, Germany Using a cross-sectional study design, we enrolled a sample of adult laypersons (n = 273). For the survey, we followed the concept of photograph presentation and questionnaire investigation reported by Sergl and Schmid (1973). We presented anonymised frontal and profile pictures of the faces of 50 cleft patients and asked the laypersons to specify social distance. Three predictor variables (layperson gender, profession and year of evaluation) were grouped. Although social distance has reduced during the last 40 years, life situations which require emotional proximity still cause some concern. Professional background and gender affect laypersons' attitudes. Although rehabilitation of cleft lip and palate is much better than 40 years ago, social distance remains a problem in society. It is necessary to improve both results of rehabilitation of cleft patients and social acceptance by the people around them.

Five-year speech and language outcomes in children with cleft lip-palate.

PubMed

Prathanee, Benjamas; Pumnum, Tawitree; Seepuaham, Cholada; Jaiyong, Pechcharat

2016-10-01

To investigate 5-year speech and language outcomes in children with cleft lip/palate (CLP). Thirty-eight children aged 4-7 years and 8 months were recruited for this study. Speech abilities including articulation, resonance, voice, and intelligibility were assessed based on Thai Universal Parameters of Speech Outcomes. Language ability was assessed by the Language Screening Test. The findings revealed that children with clefts had speech and language delay, abnormal understandability, resonance abnormality, and voice disturbance; articulation defects that were 8.33 (1.75, 22.47), 50.00 (32.92, 67.08), 36.11 (20.82, 53.78), 30.56 (16.35, 48.11), and 94.44 (81.34, 99.32). Articulation errors were the most common speech and language defects in children with clefts, followed by abnormal understandability, resonance abnormality, and voice disturbance. These results should be of critical concern. Protocol reviewing and early intervention programs are needed for improved speech outcomes. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

[Morphological classification and velopharyngeal function analysis of submucous cleft palate patients].

PubMed

Heng, Yin; Chunli, Guo; Bing, Shi; Yang, Li; Jingtao, Li

2016-10-01

To enhance the accuracy in diagnosis and management of submucous cleft palate via a thorough analysis of its anatomical and functional details. Two hundred seventy-six submucous cleft palate cases from 2008 to 2014 were retrospectively investigated. Subgroup analysis were performed on the basis of preoperative velopharyngeal function, palatal morphology, cleft lip concurrence, and patient motives for treatment. Among the included cases, 96 (34.78%) were presented as velopharyngeal competence (VPC), 151 (54.71%) as velopharyngeal insufficiency (VPI), and 29 (10.51%) as marginal VPI (MVPI). Eighty cases (28.99%) also demonstrated cleft lip deformity, and 196 cases (71.01%) were merely submucous cleft palate. Compared with patients with submucous cleft palate only, those with cleft lips exhibited higher rates of complete velopharyngeal closure. The pathological spectrum of submucous cleft palate varied significantly. Only 103 (37.32%) cases met all the three diagnostic criteria proposed by Calnan. Given that the velopharyngeal closure rate varies among the subgroups, the factors analyzed in this study should be considered in the personalized manage-ment of submucous cleft palate.

Maxillary distraction in patients with cleft deformity using a rigid external distraction device: a pilot study on the distraction ratio of the maxilla to the device.

PubMed

Harada, Kiyoshi; Sato, Masaru; Omura, Ken

2004-01-01

We examined the ratio between actual maxillary distraction and the distraction of the rigid external distraction device (Rigid external distraction (RED) system) used for maxillary distraction in patients with a cleft deformity. Twelve patients were examined. The amount of maxillary advancement was measured on lateral cephalograms and divided by the activation amount on the RED system. The value obtained was represented as the distraction ratio of the maxilla to the system. The mean ratio in 10 patients with complete cleft lip, palate, and alveolus (complete cleft) was 0.24. However, the ratios in two patients with cleft lip and alveolus or soft cleft palate (incomplete cleft) were considerably higher than the mean ratios in patients with complete cleft. When the maxilla is distracted in patients with complete cleft using the RED system, the amount of activation on the system needs to be about four times the amount of planned maxillary distraction. However, the distraction ratio may be affected by the type of cleft.

Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6

DOE Office of Scientific and Technical Information (OSTI.GOV)

Blanton, S.H.; Malcolm, S.; Winter, R.

1996-01-01

Nonsyndromic cleft lip with or without associate cleft palate (CLP) is a common craniofacial defect, occurring in {approximately}1/1,000 live births. While the defect generally occurs sporadically, multiplex families have been reported. Segregation analyses have demonstrated that, in some families, CLP is inherited as an autosomal dominant/codominant disorder with low penetrance. Several clefting loci have been proposed on multiple chromosomes, including 6p24, 4q, and 19q13.1. Association studies and linkage studies suggested a locus that mapped to 6p24. We were unable to confirm this in a linkage study of 12 multigenerational families. A subsequent linkage study by Carinci et al., however, foundmore » evidence for linkage to this region in 14 of 21 clefting families. Additionally, Davies et al. studied the chromosomes of three individuals with cleft lip and palate, all of whom had a rearrangement involving 6p24. Their investigation supported a locus at 6p24. Carinci et al. reported that the most likely position for a clefting locus was at D6S89, which is centromeric to EDN1. This is in contrast to the findings of Davies et al., who suggested a placement telomeric to EDN1. F13A, which had been implicated in the initial association studies, is telomeric to EDN1. Thus, the region between F13A and D6S89 encompasses the regions proposed by both Davies et al. and Carinci et al. A second clefting locus, at 4q, was proposed by Beiraghi et al., who studied a single multigenerational family by linkage analysis. Their data suggested a locus near D4S175 and D4S192. 10 refs., 1 tab.« less

Secondary closure of alveolar cleft with resorbable collagen membrane and a combination of intraoral autogenous bone graft and deproteinized anorganic bovine bone

PubMed Central

Aly, Lobna Abdel Aziz; Hammouda, Nelly

2016-01-01

Objects: Secondary alveolar bone grafting is a method that enables an excellent oral rehabilitation of the patients having alveolar cleft. The aim of this work is to report the closure of the alveolar cleft with the use of harvested autogenous bone graft combined with deproteinized anorganic bovine bone (Bio-Oss) under local anesthesia. Settings and Sample Population: Nine patients with age range, 8–11 years were consulted for their unilateral alveolar cleft. Materials and Methods: A combination of symphyseal bone and deproteinized bovine bone mineral (DBBM) was placed into the alveolar cleft defect. Clinical and radiographical assessments were performed at 1, 3, and 6 months postoperatively. Results: The healing period was uneventful in all cases, and no complications, such as membrane exposure, infection, or harvest site morbidity, were observed. All treated defect sites exhibited excellent bone formation, with an average of 5.45 mm (range, 2–9 mm; standard deviation 1.93 mm) of augmentation achieved overall. Conclusion: The treatment of vertically deficient alveolar ridges with guided bone regeneration using a mixture of autogenous bone and DBBM and resorbable collagen membrane can be considered successful, using this technique in an out-patient office setting. PMID:28299252

Remote Digital Preoperative Assessments for Cleft Lip and Palate May Improve Clinical and Economic Impact in Global Plastic Surgery.

PubMed

Hughes, Christopher; Campbell, Jacob; Mukhopadhyay, Swagoto; McCormack, Susan; Silverman, Richard; Lalikos, Janice; Babigian, Alan; Castiglione, Charles

2017-09-01

Reconstructive surgical care can play a vital role in the resource-poor settings of low- and middle-income countries. Telemedicine platforms can improve the efficiency and effectiveness of surgical care. The purpose of this study is to determine whether remote digital video evaluations are reliable in the context of a short-term plastic surgical intervention. The setting for this study was a district hospital located in Latacunga, Ecuador. Participants were 27 consecutive patients who presented for operative repair of cleft lip and palate. We calculated kappa coefficients for reliability between in-person and remote digital video assessments for the classification of cleft lip and palate between two separate craniofacial surgeons. We hypothesized that the technology would be a reliable method of preoperative assessment for cleft disease. Of the 27 (81.4%) participants, 22 received operative treatment for their cleft disorder. Mean age was 11.1 ± 8.3 years. Patients presented with a spectrum of disorders, including cleft lip (24 of 27, 88.9%), cleft palate (19 of 27, 70.4%), and alveolar cleft (19 of 27, 70.4%). We found a 95.7% agreement between observers for cleft lip with substantial reliability (κ = .78, P < .01). There was an 82.6% agreement between observers for cleft palate, with a moderate interrater reliability (κ = .55, P = .01). We found only a 47.8% agreement between observers for alveolar cleft with a nonsignificant, weak kappa agreement (κ = .06, P = .74). Remote digital assessments are a reliable way to preoperatively diagnose cleft lip and palate in the context of short-term plastic surgical interventions in low- and middle-income countries. Future work will evaluate the potential for real-time, telemedicine assessments to reduce cost and improve clinical effectiveness in global plastic surgery.

Self-reports of psychosocial functioning among children and young adults with cleft lip and palate.

PubMed

Hunt, Orlagh; Burden, Donald; Hepper, Peter; Stevenson, Mike; Johnston, Chris

2006-09-01

A cross-sectional study was employed to determine the psychosocial effects of cleft lip and/or palate among children and young adults, compared with a control group of children and young adults without cleft lip and palate. The study comprised 160 children and young adults with cleft lip and/or palate and 113 children and young adults without cleft lip and/or palate. All participants were between 8 and 21 years of age. Psychological functioning (anxiety, self-esteem, depression, and behavioral problems) was assessed using validated psychological questionnaires. Happiness with facial appearance was rated using a visual analog scale. Social functioning, including experience of teasing/bullying and satisfaction with speech, was assessed using a semistructured interview. Participants with cleft lip and/or palate reported greater behavioral problems (p < .001) and more symptoms of depression (p < .01); they were teased more often (p < .001) and were less happy with their facial appearance (p < .01) and speech (p < .001), compared with controls. There were no significant difference between subjects with cleft lip and/or palate and subjects without cleft lip and/or palate in terms of anxiety (p > .05) or self-esteem (p > .05). Having been teased was a significant predictor of poor psychological functioning, more so than having a cleft lip and/or palate per se (p < .001). Teasing was greater among participants who had cleft lip and/ or palate and it was a significant predictor of poorer psychosocial functioning. Children and young adults with cleft lip and/or palate require psychological assessment, specifically focusing on their experience of teasing, as part of their routine cleft care.

Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate.

PubMed

Bessell, Alyson; Hooper, Lee; Shaw, William C; Reilly, Sheena; Reid, Julie; Glenny, Anne-Marie

2011-02-16

Cleft lip and cleft palate are common birth defects, affecting about one baby of every 700 born. Feeding these babies is an immediate concern and there is evidence of delay in growth of children with a cleft as compared to those without clefting. In an effort to combat reduced weight for height, a variety of advice and devices are recommended to aid feeding of babies with clefts. This review aims to assess the effects of these feeding interventions in babies with cleft lip and/or palate on growth, development and parental satisfaction. The following electronic databases were searched: the Cochrane Oral Health Group Trials Register (to 27 October 2010), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2010, Issue 4), MEDLINE via OVID (1950 to 27 October 2010), EMBASE via OVID (1980 to 27 October 2010), PsycINFO via OVID (1950 to 27 October 2010) and CINAHL via EBSCO (1980 to 27 October 2010). Attempts were made to identify both unpublished and ongoing studies. There was no restriction with regard to language of publication. Studies were included if they were randomised controlled trials (RCTs) of feeding interventions for babies born with cleft lip, cleft palate or cleft lip and palate up to the age of 6 months (from term). Studies were assessed for relevance independently and in duplicate. All studies meeting the inclusion criteria were data extracted and assessed for validity independently by each member of the review team. Authors were contacted for clarification or missing information whenever possible. Five RCTs with a total of 292 babies, were included in the review. Comparisons made within the RCTs were squeezable versus rigid feeding bottles (two studies), breastfeeding versus spoon-feeding (one study) and maxillary plate versus no plate (two studies). No statistically significant differences were shown for any of the primary outcomes when comparing bottle types, although squeezable bottles were less likely to require modification. No difference was shown for infants fitted with a maxillary plate compared to no plate. However, there was some evidence of an effect on weight at 6 weeks post-surgery in favour of breastfeeding when compared to spoon-feeding (mean difference 0.47; 95% confidence interval 0.20 to 0.74). Squeezable bottles appear easier to use than rigid feeding bottles for babies born with clefts of the lip and/or palate, however, there is no evidence of a difference in growth outcomes between the bottle types. There is weak evidence that breastfeeding is better than spoon-feeding following surgery for cleft. There was no evidence to suggest that maxillary plates assist growth in babies with clefts of the palate. No evidence was found to assess the use of any types of maternal advice and/or support for these babies.

Opportunities and Challenges in Establishing a Cohort Study: An Example From Cleft Lip/Palate Research in the United Kingdom.

PubMed

Stock, Nicola Marie; Humphries, Kerry; Pourcain, Beate St; Bailey, Maggie; Persson, Martin; Ho, Karen M; Ring, Susan; Marsh, Cathy; Albery, Liz; Rumsey, Nichola; Sandy, Jonathan

2016-05-01

Cleft lip and/or palate (CL/P) is one of the most common birth conditions in the world, but little is known about its causes. Professional opinion remains divided as to which treatments may be the most beneficial for patients with CL/P, and the factors that contribute to psychological adjustment are poorly understood. The use of different methodological approaches and tools plays a key role in hampering efforts to address discrepancies within the evidence base. A new UK-wide program of research, The Cleft Collective, was established to combat many of these methodological challenges and to address some of the key research questions important to all CL/P stakeholders. To describe the establishment of CL/P cohort studies in the United Kingdom and to consider the many opportunities this resource will generate. To date, protocols have been developed and implemented within most UK cleft teams. Biological samples, environmental information, and data pertaining to parental psychological well-being and child development are being collected successfully. Recruitment is currently on track to meet the ambitious target of approximately 9800 individuals from just more than 3000 families. The Cleft Collective cohort studies represent a significant step forward for research in the field of CL/P. The data collected will form a comprehensive resource of information about individuals with CL/P and their families. This resource will provide the basis for many future projects and collaborations, both in the United Kingdom and around the world.

Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

PubMed

Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

2018-02-19

We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

Cleft lip and palate: Parental experiences of stigma, discrimination, and social/structural inequalities

PubMed Central

Adeyemo, Wasiu Lanre; James, Olutayo; Butali, Azeez

2016-01-01

Background: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common “phenomenon” experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. Materials and Methods: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria. This was a cross-sectional descriptive study among mothers of children born with CLP, using both interviewer-administered questionnaire and a semi-structured interview. Results: A total of 51 mothers of children with cleft lip and/or palate participated in the study. 35.3% of respondents believed cleft was an “act of God,” whereas others believed it was either due to “evil spirit” (5.9%), “wicked people” (9.8%). Seventy-three percent of the mothers were ashamed of having a child with orofacial cleft. Two of the respondents wanted to abandon the baby in the hospital. About a quarter of the respondent wished the child was never born and 59% of the fathers were ashamed of the facial cleft. Fifty-one percent admitted that their relatives were ashamed of the orofacial cleft, and 65% admitted that their friends were ashamed of the cleft. In addition, 22% of the respondents admitted that they have been treated like an outcast by neighbors, relatives, and friends because of the cleft of their children. When asked about refusal to carry the affected children by friends, relatives, and neighbors, 20% of respondents said “Yes.” Conclusions: Myths surrounding the etiology of orofacial cleft are prevalent in Nigeria. Parents and individuals with CLP experience stigma as well as social and structural inequalities due to societal perceptions and misconception about CLP. Public and health-care professionals must be equipped with necessary knowledge to combat stigma, discrimination, social and structural inequalities, and misconceptions associated with orofacial cleft. CLP should be considered a facial difference rather than a disability. PMID:28299257

What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts?

PubMed

Mailáth-Pokorny, M; Worda, C; Krampl-Bettelheim, E; Watzinger, F; Brugger, P C; Prayer, D

2010-10-01

Ultrasound is the modality of choice for prenatal detection of cleft lip and palate. Because its accuracy in detecting facial clefts, especially isolated clefts of the secondary palate, can be limited, magnetic resonance imaging (MRI) is used as an additional method for assessing the fetus. The aim of this study was to investigate the role of fetal MRI in the prenatal diagnosis of facial clefts. Thirty-four pregnant women with a mean gestational age of 26 (range, 19-34) weeks underwent in utero MRI, after ultrasound examination had identified either a facial cleft (n = 29) or another suspected malformation (micrognathia (n = 1), cardiac defect (n = 1), brain anomaly (n = 2) or diaphragmatic hernia (n = 1)). The facial cleft was classified postnatally and the diagnoses were compared with the previous ultrasound findings. There were 11 (32.4%) cases with cleft of the primary palate alone, 20 (58.8%) clefts of the primary and secondary palate and three (8.8%) isolated clefts of the secondary palate. In all cases the primary and secondary palate were visualized successfully with MRI. Ultrasound imaging could not detect five (14.7%) facial clefts and misclassified 15 (44.1%) facial clefts. The MRI classification correlated with the postnatal/postmortem diagnosis. In our hands MRI allows detailed prenatal evaluation of the primary and secondary palate. By demonstrating involvement of the palate, MRI provides better detection and classification of facial clefts than does ultrasound alone. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

Lower lip deformity in patients with cleft and non-cleft Class III malocclusion before and after orthognathic surgery.

PubMed

Park, Joo Seok; Koh, Kyung S; Choi, Jong Woo

2015-10-01

Orthognathic surgery does not yield the same cosmetic benefits in patients with Class III jaw deformities associated with clefts as for patients without clefts. Preoperative upper lip tightness caused by cleft lip repair may not fully explain this difference, suggesting that a lower lip deformity is present. The study compared the outcomes of orthognathic surgery in patients with cleft and non-cleft Class III malocclusion, focusing on lip relationship. The surgical records of 50 patients with Class III malocclusion, including 25 with and 25 without clefts, who had undergone orthognathic surgery, were retrospectively analyzed. Lateral cephalometric tracings, preoperatively and at 6 months postoperatively, were superimposed to analyze the soft tissue changes at seven reference points. At 6 months after surgery, there were no significant differences in skeletal location, whereas the soft tissues of the lower lip differed significantly between patients with and without cleft (p=0.002), indicating the persistence of a lower lip deformity in cleft patients. Moreover, the soft tissues of the lower lip receded in non-cleft patients and protruded in cleft patients after orthognathic surgery. Lower lip deformity and upper lip tightness may result in an unsatisfactory relationship between the upper and lower lips of patients with cleft-related jaw deformity after orthognathic surgery. Other factors were less important than the pathology of the lower lip. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

A New Classification System for Unilateral Cleft Lip and Palate Infants to assist Presurgical Infant Orthopedics.

PubMed

Daigavane, P S; Hazarey, P V; Niranjane, P; Vasudevan, S D; Thombare, B R; Daigavane, S

2015-01-01

The proposed advantages of pre-surgical naso-alveolar moulding (PNAM) are easy primary lip repair which heals under minimum tension reducing the scar formation and improving the aesthetic results in addition to reshaping of alar cartilage and improvement of nasal symmetry.However, the anatomy and alveolar morphology varies for each cleft child; the procedure for PNAM differs accordingly. In an attempt to categorize unilateral cleft lip and palate cases as per anatomical variations, a new classification system has been proposed. This classification aims to give an insight in unilateral cleft morphology based on which modification in PNAM procedure could be done.

[Inconformity between soft tissue defect and bony defect in incomplete cleft palate].

PubMed

Zhou, Xia; Ma, Lian

2014-12-01

To evaluate the inconformity between soft tissue defect and bony defect by observing the cleft extent of palate with complete secondary palate bony cleft in incomplete cleft palate patient. The patients with incomplete cleft palate treated in Hospital of Stomatology Peking University from July 2012 to June 2013 were reviewed, of which 75 cases with complete secondary palate bony cleft were selected in this study. The CT scan and intraoral photograph were taken before operation. The patients were classified as four types according to the extent of soft tissue defect. Type 1: soft tissue defect reached incisive foremen region, Type 2 was hard and soft cleft palate, Type 3 soft cleft palate and Type 4 submucous cleft palate. Type 1 was defined as conformity group (CG). The other three types were defined as inconformity group (ICG) and divided into three subgroups (ICG-I), (ICG-II) and (ICG-III). Fifty-seven patients were in ICG group, and the rate of inconformity was 76% (57/75). The percentage of ICG-I, ICG-II and ICG-III was 47% (27/57), 23% (13/57) and 30% (17/57), respevtively. There are different types of soft tissue deformity with complete secondary palate bony cleft. The inconformity between soft tissue and hard tissue defect exits in 3/4 of isolated cleft palate patients.

One-stage closure of isolated cleft palate with the Veau-Wardill-Kilner V to Y pushback procedure or the Cronin modification. II. Height, weight and comparison of dental arches.

PubMed

Heliövaara, A; Pere, A; Ranta, R

1994-03-01

The body height and weight, and sizes of dental arches in 116 patients with isolated cleft palate were evaluated at 16.9-20.6 years of age. One-stage closure of the soft and hard palate had been done at a mean age of 1.8 years using the Veau-Wardill-Kilner or the Cronin mucoperiosteal palatal V-Y pushback technique. The height attained in both the boys (177.6 cm) and the girls (165.7 cm) was similar to that in the general adult population, even though half of the boys had not reached their final height. The median relative weight for height and sex was 6%. There were no significant differences in dental arch measurements depending on the method of operation but the more palatal operations done the shorter the maxillary and mandibular dental arch widths. The extent of cleft made a significant difference, larger clefts having narrower palatal intercanine widths. Dental arch dimensions were consistently larger in boys than in girls.

Unilateral microform cleft lip repair: application of muscle tension line group theory.

PubMed

Yin, Ningbei; Song, Tao; Wu, Jiajun; Chen, Bo; Ma, Hengyuan; Zhao, Zhenmin; Wang, Yongqian; Li, Haidong; Wu, Di

2015-03-01

In microform cleft lip repair, reconstructing the elaborate structures is difficult. We describe a new technique of unilateral microform cleft lip repair that is based on the muscle tension line group theory. According to the shape of Cupid bow, a different small incision is used without creating an obvious cutaneous scar. First, the nasolabial muscle around the nasal floor (the first auxiliary tension line group) is reconstructed, and then the orbicularis oris muscle around the philtrum (the second auxiliary tension line group) is reconstructed based on the muscle tension line group theory. From June 2006 to June 2012, the technique was used in 263 unilateral microform cleft lip repairs. For 18 months, 212 patients were followed up. The appearance of the nasal alar, nasal sill, philtrum, and Cupid bow peak improved. Most patients had a satisfactory appearance. Based on the muscle tension line group theory, using this technique offers the ability to adduct the nasal alar effectively to form a good nasal sill and philtrum.

Study of relationship between clinical factors and velopharyngeal closure in cleft palate patients

PubMed Central

Chen, Qi; Zheng, Qian; Shi, Bing; Yin, Heng; Meng, Tian; Zheng, Guang-ning

2011-01-01

BACKGROUND: This study was carried out to analyze the relationship between clinical factors and velopharyngeal closure (VPC) in cleft palate patients. METHODS: Chi-square test was used to compare the postoperative velopharyngeal closure rate. Logistic regression model was used to analyze independent variables associated with velopharyngeal closure. RESULTS: Difference of postoperative VPC rate in different cleft types, operative ages and surgical techniques was significant (P=0.000). Results of logistic regression analysis suggested that when operative age was beyond deciduous dentition stage, or cleft palate type was complete, or just had undergone a simple palatoplasty without levator veli palatini retropositioning, patients would suffer a higher velopharyngeal insufficiency rate after primary palatal repair. CONCLUSIONS: Cleft type, operative age and surgical technique were the contributing factors influencing VPC rate after primary palatal repair of cleft palate patients. PMID:22279464

Outcomes of Cleft Palate Repair in Patients with Pierre Robin Sequence: A Matched Case-Control Study.

PubMed

Hardwicke, Joseph T; Richards, Helen; Cafferky, Louise; Underwood, Imogen; ter Horst, Britt; Slator, Rona

2016-03-01

Pierre Robin sequence results from a cascade of events that occur during embryologic development and frequently presents with cleft palate. Some studies have shown speech outcomes to be worse in patients with Pierre Robin sequence after cleft palate repair. A cohort of Pierre Robin sequence patients who all required an airway intervention and nasogastric feeding in the neonatal period were identified and speech outcomes assessed at 5 years of age. A cleft- and sex-matched non-Pierre Robin sequence, cleft palate-only comparison group was also identified from the same institution and study period. A total of 24 patients with Pierre Robin sequence that required airway and nutritional support in the neonatal period were matched for age, sex, and cleft type to a group of 24 non-Pierre Robin sequence cleft patients. There was no significant difference in the incidence of oronasal fistula between the groups. Secondary surgery for velopharyngeal incompetence was significantly more (p = 0.017) in the Pierre Robin sequence group, who also had significantly greater nasality (p = 0.031) and cleft speech characteristic (p = 0.023) scores. The authors hypothesize that other factors may exist in Pierre Robin sequence that may lead to poor speech outcomes. The authors would suggest counseling parents of children with Pierre Robin sequence that have required a neonatal airway intervention, that speech development may be poorer than in other children with cleft palate, and that these children will have a significantly higher incidence of secondary speech surgery. Risk, II.

Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate.

PubMed

Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo; Reis, Silvia

2016-01-01

Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P.

Incidence of facial clefts in Cambridge, United Kingdom.

PubMed

Bister, Dirk; Set, Patricia; Cash, Charlotte; Coleman, Nicholas; Fanshawe, Thomas

2011-08-01

The aim of this study was to determine the incidence of facial clefting in Cambridge, UK, using multiple resources of ascertainment and to relate the findings to antenatal ultrasound screening (AUS) detection rates. AUS records from an obstetric ultrasound department, post-natal records from the regional craniofacial unit, and autopsy reports of foetuses over 16 weeks' gestational age from a regional pathology department from 1993 to 1997 were retrospectively reviewed. Cross-referencing between the three data sets identified all cases of facial clefts. Of 23,577 live and stillbirths, 30 had facial clefts. AUS detected 17 of these. Sixteen of the 30 had isolated facial clefts. Others had associated anomalies, chromosomal defects, or syndromes. Percentages and confidence intervals were calculated from the above data. Twenty-one resulted in live births, seven terminations, and two foetal deaths. Overall, detection rate by AUS was 65 percent [67 percent isolated cleft lip, 93 per cent cleft lip and palate (CLP), and 22 percent isolated cleft palate], with no false positives. The incidence of facial clefts was 0.127 percent (95 percent confidence interval 0.089-0.182 percent); the incidence for isolated CLP was lower than previously reported: 0.067 percent (0.042-0.110 percent). With one exception, all terminations were in foetuses with multiple anomalies. The figures presented will enable joint CLP clinics to give parents information of termination rates. The study allows pre-pregnancy counselling of families previously affected by clefting about the reliability of AUS detection rates.

Middle ear findings and need for ventilation tubes among pediatric cleft lip and palate patients in northern Finland.

PubMed

Lehtonen, Ville; Lithovius, Riitta H; Autio, Timo J; Sándor, George K; Ylikontiola, Leena P; Harila, Virpi; Pesonen, Paula; Koskinen, Sari; Anttonen, Vuokko

2016-04-01

Middle ear problems are common in cleft patients. This study aimed to determine the need for ventilation tubes (VTs) and complications such as tympanic perforation and cholesteatoma. Data of 156 children with clefts managed in northern Finland spanning 15 years from 1997 to 2011 were collected from 6 hospitals. The following were recorded: birth date, gender, cleft type, surgery timing, surgery type, number of tube insertions, tube material, middle ear findings, and tube placement timing. Clefts were divided into 4 groups: cleft palate (CP), cleft lip and palate (CLP), cleft lip (CL), and submucous cleft palate. The prevalence of middle ear findings was reported. Mucous secretion was noted in 96.8% of CLP patients, 69.2% of CP patients, and 13.0% of CL patients. In all, 82.7% of study group had 1 or more VTs placed during follow-up. All CLP patients required more than 1 VT placement. A total of 94.5% of CP patients required VTs compared to 13.0% of CL patients. In the presence of residual oral nasal fistula, the mean number of tube insertions was 5.3. The prevalence of tympanic perforations in clefts was 35.9% and cholesteatoma in 2.6% of patients. CLP and isolated CP patients have frequent middle ear infections requiring multiple VT placements. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

A Sustainable Model for Patient follow-up following an International Cleft Mission: A Proof of Concept.

PubMed

Wes, Ari M; Paul, Nadine; Gerety, Patrick A; Folsom, Nancy; Swanson, Jordan; Taylor, Jesse A; Weinstein, Mark H

2018-01-01

Purpose Patient follow-up after cleft missions is imperative if we are to critically assess the quality of care provided in these settings. The adoption of mobile telephones among disadvantaged families abroad may enable such an undertaking in a cost-effective manner. This project aimed to assess the efficacy of cellular phone-based follow-up in a developing country following a cleft mission to Thailand. Methods Changing Children's Lives Inc. performed a cleft surgical mission to Udon Thani, Thailand, in January 2013. Telephone numbers collected at that time were used to survey the patients or their parents 1.5 years postoperatively. Results Of the 56 patients who underwent cleft lip and/or palate surgery during the mission, more than 50% ( n = 30, 54%) were reachable by telephone; all chose to participate in the study. The cost for families was U.S. $124.92 (56.15); 26 families (87%) believed their money was well spent. Follow-up care was received by 22 (73%) patients, and all but one family ( n = 29, 97%) felt that their child received all of the medical care and support required. All families ( N = 30) would recommend similar cleft care to a friend. Of the patients younger than 18 years of age ( n = 24, 80%), 20 (80%) families found their child more comfortable interacting with peers, more comfortable interacting with adults, and more confident postoperatively. Conclusion In one month, a survey response rate of more than 50% was obtained by leveraging the increased adoption of mobile phones in rural settings. Nearly all patients/families treated during the cleft mission were satisfied with the care that they received.

The role of pediatric dentistry in multidisciplinary cleft palate teams at advanced pediatric dental residency programs.

PubMed

Jaju, Rishita; Tate, Anupama Rao

2009-01-01

The purpose of this study was to characterize the participation of pediatric dentistry in multidisciplinary cleft palate teams (CPTs) at advanced pediatric dental residency programs. A survey was sent to the directors of advanced pediatric dentistry programs across the United States. Of the 60 (90%) surveys returned, 18% of the programs were university-based, 40% hospital-based, and 42% combined programs. Overall, 92% of the programs reported pediatric dentistry's participation in CPTs. Orthodontics, plastic surgery, oral surgery, otolaryngology, and speech therapy, are represented on at least 75% of the CPTs. Nursing and psychology are represented in less than 50% of the CPTs. A higher percentage of combined programs reported providing interceptive orthodontics, while more hospital-based programs reported providing presurgical infant orthopedic appliances (PIOAs). Of the 47% of the programs that reported use of POIA, 64% reported using removable appliances. Seventy-five percent of the programs reported that there has been no change, 22% reported an increase, and 3% reported a decrease in the CPT participation level in the post 5 years. This study highlights the role of pediatric dentistry as a part of cleft palate team. This role extends from preventive and restorative to infant orthopedics.

Swallowing function after laryngeal cleft repair: more than just fixing the cleft.

PubMed

Osborn, Alexander J; de Alarcon, Alessandro; Tabangin, Meredith E; Miller, Claire K; Cotton, Robin T; Rutter, Michael J

2014-08-01

To evaluate and describe the swallowing function in children after laryngeal cleft repair. Ten-year (2002-2012) retrospective chart review. Academic tertiary care pediatric otolaryngology practice. Records of 60 children who had surgical repair of laryngeal cleft (ages 2 weeks-14 years) and postoperative functional endoscopic evaluation of swallowing or videofluoroscopic swallow studies were examined retrospectively. Twenty-nine children had one postoperative swallow evaluation, 19 children had two, 4 children had three, 5 children had four, and 3 children had five. Median time to the first evaluation was 10.8 weeks (interquartile range [IQR]: 36.5, 231). On the final swallow evaluation, 34 (57%) children demonstrated normal swallowing parameters, 12 (20%) children showed penetration, and 14 (23%) children showed aspiration. Forty-three (72%) children were able to take everything by mouth normally or with minor behavioral modifications, 11 (18%) children required thickened fluids, and six (10%) children were kept nil per os (NPO). Mean improvement on the penetration-aspiration (pen-asp) scale was 2.13. On multivariable analysis, neurodevelopmental issues and gastronomy tube use were associated with the need for NPO status. Despite a high rate of surgical success, a substantial minority of children have persistent swallowing dysfunction after laryngeal cleft repair. Swallowing dysfunction after repair is multifactorial and arises from concomitant neurologic, anatomic, or other comorbidities that contribute to oropharyngeal and pharyngeal dysphagia. Based on our results, we recommend a testing schedule for postoperative swallowing evaluations after cleft repair. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate.

PubMed

Vieira, Alexandre R; Letra, Ariadne; Silva, Renato M; Granjeiro, Jose M; Shimizu, Takehiko; Poletta, Fernando A; Mereb, Juan C; Castilla, Eduardo E; Orioli, Iêda M

2018-03-01

The 19q13 locus has been linked to cleft lip and palate by our group and independently by others. Here we fine mapped the region in an attempt to identify an etiological variant that can explain cleft lip and palate occurrence. A total of 2739 individuals born with cleft lip and palate, related to individuals born with cleft lip and palate, and unrelated were studied. We used linkage and association approaches to fine map the interval between D19S714 and D19S433 and genotypes were defined by the use of TaqMan chemistry. We confirmed our previous findings that markers in PVR/CD155 are associated with cleft lip and palate. We studied the mutation Ala67Thr further and calculated its penetrance. We also attempted to detect PVR/CD155 expression in human whole saliva. Our results showed that markers in PVR/CD155 are associated with cleft lip and palate and the penetrance of the Ala67Thr is very low (between 1% and 5%). We could not detect PVR/CD155 expression in adult human whole saliva and PVR/CD155 possibly interacts with maternal infection to predispose children to cleft lip only.

Alteration of maxillary and mandibular growth of adult patients with unoperated isolated cleft palate.

PubMed

Yang, Yunqiang; Wu, Yeke; Gu, Yifei; Yang, Qijian; Shi, Bing; Zheng, Qian; Wang, Yan

2013-07-01

The objective of this study was to investigate the effects of cleft palate itself on the growth of maxilla and mandible. Fifty-two adult female patients with unoperated isolated cleft palate and 52 adult female individuals with normal occlusion were included in our study. Computer software was used for lateral cephalometry measurement. Manual measurement was performed for dental cast measurements, and sample t test analysis was applied to analyze the differences between the 2 groups using SPSS 17.0. The sella-nasion-subspinale point angle, subspinale-nasion-supramentale point angle, and maxillary arch length of the cleft group were significantly smaller than those of the control group (P < 0.01). Both maxillary and mandibular posterior dental arch widths of the cleft group were significantly larger compared with the control group (P < 0.01), whereas the sella-nasion-supramentale point angle, mandible arch length, palate height, and palate shelf inclination did not differ between the 2 groups. The measurements did not differ between the submucosal cleft and the overt cleft patients. Cleft palate itself has adverse effects on the maxilla growth with shorter maxillary arch length and wider posterior dental arch width.

Maternal occupation and the risk of major birth defects: A follow-up analysis from the National Birth Defects Prevention Study

PubMed Central

Lin, Shao; Herdt-Losavio, Michele L.; Chapman, Bonnie R.; Munsie, Jean-Pierre; Olshan, Andrew F.; Druschel, Charlotte M.

2013-01-01

This study further examined the association between selected maternal occupations and a variety of birth defects identified from prior analysis and explored the effect of work hours and number of jobs held and potential interaction between folic acid and occupation. Data from a population-based, multi-center case-control study was used. Analyses included 45 major defects and specific sub-occupations under five occupational groups: healthcare workers, cleaners, scientists, teachers and personal service workers. Both logistic regression and Bayesian models (to minimize type-1 errors) were used, adjusted for potential confounders. Effect modification by folic acid was also assessed. More than any other occupation, nine different defects were positively associated with maids or janitors [odds ratio (OR) range: 1.72-3.99]. Positive associations were also seen between the following maternal occupations and defects in their children (OR range: 1.35-3.48): chemists/conotruncal heart and neural tube defects (NTDs), engineers/conotruncal defects, preschool teachers/cataracts and cleft lip with/without cleft palate (CL/P), entertainers/athletes/gastroschisis, and nurses/hydrocephalus and left ventricular outflow tract heart defects. Non-preschool teachers had significantly lower odds of oral clefts and gastroschisis in their offspring (OR range: 0.53-0.76). There was a suggestion that maternal folic acid use modified the effects with occupations including lowering the risk of NTDs and CL/P. No consistent patterns were found between maternal work hours or multiple jobs by occupation and the risk of birth defects. Overall, mothers working as maids, janitors, biologists, chemists, engineers, nurses, entertainers, child care workers and preschool teachers had increased risks of several malformations and non-preschool teachers had a lower risk of some defects. Maternal folic acid use reduced the odds of NTDs and CL/P among those with certain occupations. This hypothesis-generating study will provide clues for future studies with better exposure data. PMID:22695106

Internationally adopted children with cleft lip and/or palate: A retrospective cohort study.

PubMed

Werker, C L; de Wilde, H; Mink van der Molen, A B; Breugem, C C

2017-12-01

The treatment approach for internationally adopted children with cleft lip and/or palate differs from locally born children with cleft lip and/or palate. They are older at initial presentation, may have had treatment abroad of different quality, and are establishing new and still fragile relationships with their adoptive parents. The aim of this study was to describe the characteristics and initial care and treatment of this group. A retrospective cohort study was performed including all internationally adopted children with cleft lip and/or palate presenting to the cleft team outpatient clinic in the Wilhelmina Children's Hospital between January 1994 and December 2014. Medical records of all patients were reviewed; information concerning demographic characteristics, characteristics at initial presentation, and treatment were obtained. A total number of 132 adopted patients were included: 15% had cleft lip, 7% had cleft palate, and 78% had cleft lip and palate. The average age at the time of adoption was 26.5 months. In most cases, China was the country of origin. Seventy-eight percent had surgery in their country of origin, primarily lip repair. Fistulae in need of revision surgery were found in 8% of the patients. Pharyngoplasty was needed in 48% of the patients. No significant differences were found for mean age at adoption, gender, cleft type, and one- or two-stage palatal closure. Internationally adopted children with cleft lip and/or palate are a very diverse group of patients with challenging treatment. These children undergo surgery late and frequently need additional surgery. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Psychosocial Wellbeing of Parents of Children with Oral Clefts

PubMed Central

Nidey, Nichole; Moreno Uribe, Lina M.; Marazita, Mary M.; Wehby, George L.

2016-01-01

Background Parents of children with oral clefts may be impacted psychosocially in several ways, but empirical evidence remains relatively sparse. The aim of this study was to identify predictors of psychosocial wellbeing of parents of affected children. Methods The study included a total sample of 287 parents (171 mothers, 116 fathers) of children with oral clefts. Parents completed validated psychosocial instruments to measure social avoidance and distress, fear of negative evaluation scale, self-esteem and interpersonal support. Regression analysis was used to evaluate how selected child, parent, and household characteristics relate to psychosocial outcomes focusing on child’s cleft type, sex, and age, differences between mothers and fathers, marital status, and household income. Results Fathers had higher self-esteem than mothers (p=0.01) and lower concern of being negatively judged by others (p<0.0001) but also had lower perception of having someone to talk to about their problems (p=0.01). High household income was associated with greater self-esteem and perception of social support (<0.05). Parents of male affected children had greater perception of social support than parents of female affected children (p=0.04). No significant differences in parental psychosocial status measures were found by cleft type. Similarly, there is little evidence of changes with child age, except for an increase in parental distress and decline in self-esteem during mid adolescence (age 15–17 years). Conclusions The results indicate that mothers and fathers of children with oral clefts may differ in their psychosocial adjustment and that mothers may overall experience more psychosocial problems than fathers. Also, parents from less wealthy households may be at greater risk. Parental psychosocial status should be considered in holistic family-based treatment approaches to reduce burden on affected families and improve their wellbeing. PMID:26302988

Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample.

PubMed

Ishorst, Nina; Francheschelli, Paola; Böhmer, Anne C; Khan, Mohammad Faisal J; Heilmann-Heimbach, Stefanie; Fricker, Nadine; Little, Julian; Steegers-Theunissen, Regine P M; Peterlin, Borut; Nowak, Stefanie; Martini, Markus; Kruse, Teresa; Dunsche, Anton; Kreusch, Thomas; Gölz, Lina; Aldhorae, Khalid; Halboub, Esam; Reutter, Heiko; Mossey, Peter; Nöthen, Markus M; Rubini, Michele; Ludwig, Kerstin U; Knapp, Michael; Mangold, Elisabeth

2018-06-01

Nonsyndromic cleft palate only (nsCPO) is a common and multifactorial form of orofacial clefting. In contrast to successes achieved for the other common form of orofacial clefting, that is, nonsyndromic cleft lip with/without cleft palate (nsCL/P), genome wide association studies (GWAS) of nsCPO have identified only one genome wide significant locus. Aim of the present study was to investigate whether common variants contribute to nsCPO and, if so, to identify novel risk loci. We genotyped 33 SNPs at 27 candidate loci from 2 previously published nsCPO GWAS in an independent multiethnic sample. It included: (i) a family-based sample of European ancestry (n = 212); and (ii) two case/control samples of Central European (n = 94/339) and Arabian ancestry (n = 38/231), respectively. A separate association analysis was performed for each genotyped dataset, and meta-analyses were performed. After association analysis and meta-analyses, none of the 33 SNPs showed genome-wide significance. Two variants showed nominally significant association in the imputed GWAS dataset and exhibited a further decrease in p-value in a European and an overall meta-analysis including imputed GWAS data, respectively (rs395572: P MetaEU  = 3.16 × 10 -4 ; rs6809420: P MetaAll  = 2.80 × 10 -4 ). Our findings suggest that there is a limited contribution of common variants to nsCPO. However, the individual effect sizes might be too small for detection of further associations in the present sample sizes. Rare variants may play a more substantial role in nsCPO than in nsCL/P, for which GWAS of smaller sample sizes have identified genome-wide significant loci. Whole-exome/genome sequencing studies of nsCPO are now warranted. © 2018 Wiley Periodicals, Inc.

Dental anomalies associated with unilateral and bilateral cleft lip and palate.

PubMed

Qureshi, Wafa A; Beiraghi, Soraya; Leon-Salazar, Vladimir

2012-01-01

The purpose of this study was to compare the prevalence of dental anomalies in the primary and permanent dentition of patients with unilateral (UCLP) and bilateral (BCLP) cleft lip with or without palate. One hundred two complete clinical records were randomly selected for review from a university-based cleft palate clinic. Only nonsyndromic UCLP and BCLP cases were further selected for analysis of dental anomalies. The prevalence of 9 dental categories, including anomalies in number, crown structure, position, and maxillary-mandibular relationship, was assessed and compared between UCLP and BCLP cases using Fisher's exact test. Of the 102 charts evaluated, there were 67 cases of UCLP and 29 cases of BCLP for a total of 96 cases. There was a high prevalence of dental anomalies in primary and permanent teeth; 93% of UCLP cases and 96% of BCLP cases presented with at least 1 dental anomaly. Significant differences ( P <.05) were only found in the prevalence of anodontia of a single tooth (UCLP=39%, BCLP=14%), multiple anodontia (UCLP=22%, BCLP=54%), and anterior malocclusion (UCLP=15%, BCLP=41%). There is a high prevalence of dental anomalies associated with orofacial clefts regardless of whether they are unilateral or bilateral cleft lip with or without palate.

BMP2 and BMP4 variations and risk of non-syndromic cleft lip and palate.

PubMed

Saket, Mitra; Saliminejad, Kioomars; Kamali, Koorosh; Moghadam, Fatemeh Aghakhani; Anvar, Nazanin Esmaeili; Khorram Khorshid, Hamid Reza

2016-12-01

Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP2 (bone morphogenetic protein 2) and BMP4 (bone morphogenetic protein 4) polymorphisms with non-syndromic CL/P to clarify the potential role of these genes in the etiology of CL/P in Iranian population. The allelic and genotypic frequencies of BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms were determined in 107 unrelated Iranian subjects with non-syndromic CL/P and 186 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant. The BMP2 rs235768 AT genotype was significantly higher (P=0.009, OR=3, 95% CI=1.3-7.0) in the CL/P (59.8%) than the control group (33.3%). Similarly, the BMP4 rs17563 TC genotype were significantly higher (P=0.008, OR=3.7, 95% CI=1.4-9.9) in the CL/P (70.0%) than the control group (44.6%). The BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms could be considered as the risk factor for non-syndromic CL/P in Iranian population. Copyright © 2016 Elsevier Ltd. All rights reserved.

Tessier No. 3 and No. 4 clefts: Sequential treatment in infancy by pre-surgical orthopedic skeletal contraction, comprehensive reconstruction, and novel surgical lengthening of the ala base-canthal distance.

PubMed

Spolyar, John L; Hnatiuk, Mark; Shaheen, Kenneth W; Mertz, Jennifer K; Handler, Lawrence F; Jarial, Ravinder; Roldán, J Camilo

2015-09-01

Repair of facial clefts implies wide tissue mobilization with multi-stage surgical treatment. Authors propose pre-surgical orthopedic correction for naso-oro-ocular clefts and a novel surgical option for Tessier No. 3 cleft. Two male infants, a Tessier No. 3 cleft (age 7 months) and another Tessier No. 4 (age 3 months), were treated with a modified orthopedic Latham device with additional septo-premaxillary molding and observed to age four years. Tessier No. 3 orthopedic measurements were obtained by image corrected cephalometric analysis. Subsequent repair included tissue expansion on Tessier No. 4 and naso-frontal Rieger flap combined with myocutaneous upper lid flap on Tessier No. 3. Orthopedic movements ranged from 18.5 mm in bi-planar to 33 mm in oblique analyses. Tissue margins became aligned with platform normalization. Tissue expansion on Tessier No. 4 improved distances from ala base-lower lid and subalar base-lip. The naso-frontal flap combined with myocutaneous upper lid flap on Tessier No. 3 had similar achievement, but also sufficiently lengthened ala base-canthal distance. Repairs were facilitated by pre-surgical orthopedic correction. The naso-frontal flap combined with an upper lid myocutaneous flap seems viable as a single-stage option to lengthen ala base-canthal distance to advance repair achievement in unilateral Tessier No. 3. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Maternal reproductive history and the risk of isolated congenital malformations.

PubMed

Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

2011-03-01

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

PubMed

Dentino, K M; Valstar, A; Padwa, B L

2016-06-01

The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Occlusal Classification in Relation to Original Cleft Width in Patients With Unilateral Cleft Lip and Palate.

PubMed

Huang, Andrew H; Patel, Kamlesh B; Maschhoff, Clayton W; Huebener, Donald V; Skolnick, Gary B; Naidoo, Sybill D; Woo, Albert S

2015-09-01

To determine a correlation between the width of the cleft palate measured at the time of lip adhesion, definitive lip repair, and palatoplasty and the subsequent occlusal classification of patients born with unilateral cleft lip and palate. Retrospective, observational study. Referral, urban, children's hospital Participants : Dental models and records of 270 patients were analyzed. None. Angle occlusion classification. The mean age at which occlusal classification was determined was 11 ± 0.3 years. Of the children studies, 84 were diagnosed with Class I or II occlusion, 67 were diagnosed with Class III occlusion, and 119 were lost to follow up or transferred care. Mean cleft widths were significantly larger in subjects with Class III occlusion for all measures at time of lip adhesion and definitive lip repair (P < .02). At time of palatoplasty, cleft widths were significantly greater at the alveolus (P = .025) but not at the midportion of the hard palate (P = .35) or posterior hard palate (P = .10). Cleft widths from the lip through to the posterior hard palate are generally greater in children who are diagnosed with Class III occlusion later in life. Notably, the alveolar cleft width is significantly greater at each time point for patients who went on to develop Class III occlusion. There were no significant differences in cleft widths between patients diagnosed later with Class I and Class II occlusions.

Cone Beam Computed Tomographic Evaluation of Mandibular Asymmetry in Patients with Cleft Lip and Palate.

PubMed

Paknahad, Maryam; Shahidi, Shoaleh; Bahrampour, Ehsan; Beladi, Amir Saied; Khojastepour, Leila

2018-01-01

Objective The purpose of the present study was to compare mandibular vertical asymmetry in patients with unilateral and bilateral cleft lip and palate and subjects with normal occlusion. Materials and Methods Cone beam computed tomography scans of three groups consisting of 20 patients with unilateral cleft lip and palate, 20 patients affected by bilateral cleft lip and palate, and a control group of 20 subjects with normal occlusion were analyzed for this study. Condylar, ramal, and condylar plus ramal asymmetry indices were measured for all subjects using the method of Habets et al. Kruskal-Wallis and Mann-Whitney tests were used to determine any significant differences between the groups for all indices at the 95% level of confidence. Results There were no significant differences regarding sex for all mandibular asymmetry indices in all three groups. All Asymmetry indices (condylar, ramal, and condylar plus ramal asymmetry) were significantly higher in the unilateral cleft group compared with the other two groups. Conclusion Cone beam computed tomography images showed that patients with cleft lip and palate suffered from mandibular asymmetry. Subjects with unilateral cleft lip and palate had a more asymmetric mandible compared with the bilateral cleft lip and palate and control groups. Therefore, the mandible appears to be the leading factor in facial asymmetry in subjects with unilateral cleft lip and palate.

Parent and child ratings of satisfaction with speech and facial appearance in Flemish pre-pubescent boys and girls with unilateral cleft lip and palate.

PubMed

Van Lierde, K M; Dhaeseleer, E; Luyten, A; Van De Woestijne, K; Vermeersch, H; Roche, N

2012-02-01

The purpose of this controlled study is to determine satisfaction with speech and facial appearance in Flemish pre-pubescent children with unilateral cleft lip and palate. Forty-three subjects with unilateral cleft lip and palate and 43 age and gender matched controls participated in this study. The Cleft Evaluation Profile was used to assess the perceived satisfaction for individual features related to cleft care. Both the cleft palate subjects and their parents were satisfied with the speech and facial appearance. The Pearson χ(2) test revealed significant difference between the cleft palate and the control group regarding hearing, nasal aesthetics and function, and the appearance of the lip. An in depth analysis of well specified speech characteristics revealed that children with clefts and their parents significantly more often reported the presence of an articulation, voice and resonance disorder and experienced /s/ /r/ /t/ and /d/ as the most difficult consonants. To what extent the incorporation of specific motor oriented oral speech techniques regarding the realisation of specific consonants, attention to vocal and ear care, and the recommendation of secondary velopharyngeal surgery, with the incorporation of primary correction of the cleft nose deformity simultaneously with primary lip closure, will aid these patients are future research subjects. Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Impact of breastfeeding or bottle-feeding on surgical wound dehiscence after cleft lip repair in infants: a systematic review protocol.

PubMed

Matsunaka, Eriko; Ueki, Shingo; Makimoto, Kiyoko

2015-10-01

The objective of this systematic review is to examine the impact of breastfeeding or bottle-feeding on surgical wound dehiscence after cleft lip repair in infants. Immediately after cleft lip repair in infants, breastfeeding and bottle-feeding are generally restricted. Alternative feeding methods such as spoon-feeding are recommended to avoid placing tension on the surgical wound. However, some studies have reported that alternative feeding methods are a source of stress to the infant and cause them to cry incessantly, resulting in postoperative weight loss. This suggests that these alternative feeding methods may have an unfavorable impact on surgical wound healing. However, a consensus on this topic has not been reached. The objective of this systematic review is to examine the impact of breastfeeding or bottle-feeding on surgical wound dehiscence after cleft lip repair in infants.Cleft lip and/or palate is a craniofacial anomaly and one of the most common birth defects. The incidence of cleft lip and/or palate differs among races, ethnic groups and geographical areas. The prevalence of cleft lip and/or palate is highest in South American countries (Bolivia: 22.94 per 10,000 live births; Paraguay: 14.90 per 10,000 live births), followed by Asian countries (China: 13.60 per 10,000 live births; Japan: 16.04 per 10,000 live births). The prevalence is lowest in African countries (3.54 per 10,000 live births). The overall worldwide prevalence is 7.9 per 10,000 births.A cleft lip and/or a cleft palate can occur separately, although they are more likely to occur together early in pregnancy. These anomalies can be surgically repaired. Without proper treatment, patients have aesthetic and functional problems, such as feeding disorders, otitis media and speech difficulties.Patients with cleft lip and/or palate usually undergo a combination of surgical procedures, speech therapy and orthodontic treatment from infancy to young adulthood. Comprehensive treatment is provided with thoughtful consideration of the balance between intervention and growth. Cleft lip repair is carried out first in comprehensive treatment regimens. The aim of cleft lip repair is to create contrast between the lip and external nose and provide good muscular continuity across the cleft without any scarring. It is usually performed from three to six months of age. Surgery is delayed until this age to allow for growth of the lip structure and assessment of the patient for the presence of comorbidities. The ability of newborn patients with cleft lip and/or palate to drink milk is important for proper growth and development.For cleft lip and/or palate patients in the newborn developmental stage, feeding can be an area of great concern and anxiety for their parents. One study found that 32% of newborn patients with cleft lip and/or palate had poor feeding skills. Feeding difficulties lead to poor growth and development in early infancy and increase the burden of care. Therefore, it is important for new parents to learn appropriate feeding techniques. Infants with cleft lip can generally drink milk from the breast through various ways of feeding. In contrast, infants with both cleft lip and palate have difficulty sucking the nipple because of weak intraoral negative pressure, and specially designed nipples are generally used. Although such infants suckle with weakened pressure, these nipples enable them to drink milk by lightly pushing them through their lip. However, after cleft lip repair, infants with cleft lip and/or palate are forced to change their feeding methods (even infants who have managed to drink milk before the repair).Breastfeeding and bottle-feeding are generally restricted immediately after cleft lip repair. Alternative feeding methods such as the use of a spoon, cup or syringe are recommended to avoid placing tension on the surgical incision. The use of a very soft nipple of sufficient size is recommended to provide a dripping milk flow, thus avoiding tension on the operative site. Some authors have recommended that patients with cleft lip and/or palate be spoon-fed for a certain period of time after cleft lip repair to avoid tension on the surgical site. However, management of the surgical site after surgical repair of cleft lip and/or palate varies among countries and healthcare centers. Little evidence-based research is available to guide healthcare staff members through the many treatment protocols for cleft lip and/or palate. No consensus about feeding methods after cleft lip repair has been reached.The above mentioned alternative feeding methods might influence the process of surgical wound healing. Minimizing crying has been considered to be the most important factor in avoiding tension on the surgical wound. In one study, however, 21.7% of infants who were given milk by a spoon on the first day after cleft lip repair resisted feeding by crying and/or moving the head laterally, while all infants fed by the nipple that had been used preoperatively accepted feeding without a major observable response. In another study, infants who were breastfed or bottle-fed after the repair were reportedly more relaxed than spoon-fed or syringe-fed infants. Changes in feeding methods seem to stress the infants and cause them to cry, which places tension on the wound.These alternative feeding methods may also have other impacts on surgical wound healing. One study reported that infants took longer to drink milk using alternative feeding methods than when using traditional feeding methods after the surgery. A systematic review suggested that alternative feeding methods were associated with less postoperative weight gain in patients than traditional feeding methods. Postoperative nutritional intake also influences wound healing. A long duration of feeding milk coupled with weight loss after the surgery suggests unnecessary energy consumption associated with the alternative feeding methods. Wound healing may consequently be inhibited or delayed.Wound healing complications after surgery include wound infection, dehiscence and proliferative scarring. Surgical wound dehiscence has been regarded as a typical complication after cleft lip and/or palate repair, followed by pyrexia. In one case series, post-surgical complications were found in 11 of 2100 infants who underwent surgical cleft lip and/or palate repair during a seven-year period. Wound dehiscence results from tissue failure rather than improper suturing technique. Therefore, alternative feeding methods are recommended to avoid placing tension on the surgical wound. However, no strong evidence has been presented to show that breastfeeding or bottle-feeding after cleft lip repair may cause surgical wound dehiscence among infants with cleft lip.Our initial search failed to find any systematic review examining the impact of breastfeeding or bottle-feeding on surgical wound dehiscence after cleft lip repair using the Cochrane Library, the JBI Database of Systematic Reviews and Implementation Reports, and other bibliographic databases, including MEDLINE and CINAHL. The proposed systematic review will contribute to the understanding of this topic and identify areas for further research. If breastfeeding or bottle-feeding is recommended immediately after cleft lip repair, the patients will experience less stress and crying, placing less tension on the wound than with alternative feeding methods. Breastfeeding or bottle-feeding will result in more weight gain, facilitating wound healing.

Benzodiazepines and Pregnancy

MedlinePlus

... heard that benzodiazepines can cause birth defects like cleft lip and palate. Is this true? Probably not. Some early studies ... a slight increase in the risk for cleft lip and/or cleft palate if a benzodiazepine was taken during the first ...

An Analysis of the Frame-Content Theory in Babble of 9-Month-Old Babies with Cleft Lip and Palate

ERIC Educational Resources Information Center

Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

2011-01-01

The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palate ([plus or minus]cleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions…

A Relationship between nasolabial appearance and self-esteem in adolescent with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center.

PubMed

Patjanasoontornm, Niramol; Wongniyom, Kusalapom; Pradubwong, Suteera; Piyavhakul, Navanant; Chowchuen, Bowornsilp

2014-10-01

To examine levels of self-esteem of adolescents with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center and its correlation with nasolabial appearance. Across-sectional survey of 93 adolescents with repaired cleft lip and palate. A total nasolabial appearance score was 2.8 +/- 0.36 (fair to good). The mean of the total self-esteem score for all respondents was 20.11 +/- 3.27 (maximum 30). There was no-significant correlation between nasolabial appearance and self esteem (Pearson product-moment correlation coefficiency (r) = 0.18, p = 0.08. The self-esteem scores of good, fair and poor appearance were 20.5 +/- 0.98, 19.8 +/- 0.32, 19 +/- 2.09 respectively. The nasolabial appearance of repaired cleft lip and palate not be the only factor but other psychosocialfactors also may play a role in their self-esteem. The analysis of this study found no relationship between self-esteem and appearance.

Analysis of the correlative factors for velopharyngeal closure of patients with cleft palate after primary repair.

PubMed

Chen, Qi; Li, Yang; Shi, Bing; Yin, Heng; Zheng, Guang-Ning; Zheng, Qian

2013-12-01

The objective of this study was to analyze the correlative factors for velopharyngeal closure of patients with cleft palate after primary repair. Ninety-five nonsyndromic patients with cleft palate were enrolled. Two surgical techniques were applied in the patients: simple palatoplasty and combined palatoplasty with pharyngoplasty. All patients were assessed 6 months after the operation. The postoperative velopharyngeal closure (VPC) rate was compared by χ(2) test and the correlative factors were analyzed with logistic regression model. The postoperative VPC rate of young patients was higher than that of old patients, the group with incomplete cleft palate was higher than the group with complete cleft palate, and combined palatoplasty with pharyngoplasty was higher than simple palatoplasty. Operative age, cleft type, and surgical technique were the contributing factors for postoperative VPC rate. Operative age, cleft type, and surgical technique were significant factors influencing postoperative VPC rate of patients with cleft palate. Copyright © 2013 Elsevier Inc. All rights reserved.

[Maxillary advancement osteotomy with sequelae cleft lip and palate: Dilemma between occlusion and aesthetic profile].

PubMed

Vigneron, A; Morand, B; Lafontaine, V; Lesne, V; Lesne, C; Bettega, G

2015-11-01

Maxillary hypoplasia is a common sequela of cleft lip and palate. Its surgical treatment consists in a maxillary advancement by distraction or by conventional orthognathic surgery but morphological results are unpredictable. Our goal in this study was to see if the esthetical results (on the lip and the nose) of maxillary advancement were correlated to the preservation of lateral incisor space of the cleft side. This retrospective study included 38 patients operated between 2002 and 2013. Unilateral clefts were studied independently from bilateral clefts. Profile aesthetics was evaluated independently and subjectively by two surgeons and scored on an 8-point scale. The result was classified as "good" if the score was superior or equal to 6. The score was correlated to the following parameters: amount of maxillary advancement, upper incisor axis, preservation of the missing lateral incisor space. In the "good result" group, the space of the lateral incisor was less often preserved. The nasolabial angle was more open and the upper central incisor axis more vertical. These results were more pronounced in bilateral clefts, but also found in unilateral clefts. Under reservation of the subjective evaluation and of the small number of patients, it seemed that lateral incisor space closure improved the profile of patients treated by maxillary advancement for cleft lip and palate sequelae. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Enzymatic evaluation of gingival crevicular fluid in cleft palate patients during orthodontic treatment: A clinico-biochemical study

PubMed Central

Kulal, Rithesh; Thomas, Biju; Ravi, M. S.; Shetty, Suchetha

2013-01-01

Background: Therapeutic goal in patients with cleft lip and palate is esthetics and long-term health of the stomatognathic system. Patients with cleft lip and palate routinely require extensive and prolonged orthodontic treatment. The osseous structures are absent or poorly developed in the osseous clefts and may be traumatized in the course of orthodontic therapy; hence require constant monitoring during orthodontic treatment. The aim of the study was to evaluate the tissue response of cleft palate patients by quantitative analysis of enzyme activity during orthodontic treatment and assess any difference in the tissue response with that of noncleft patients undergoing orthodontic treatment. Materials and Methods: 20 patients requiring orthodontic treatment agedbetween 15 to 25 years were included to participate in the studyof which ten were cleft palate patients (group I) and ten noncleft patients (group II). The GCF samples were collected at incisor and molar sites during orthodontic treatment on days as per the study design in both the groups. The GCF enzymatic levels were estimated and compared. Results: Both groups showed significant increased enzyme activity at the incisor site compared to molar site corresponding to the phases of tooth movement. Conclusion: There was significant difference in enzyme activity between the incisor adjacent to the cleft site and molar site. There was no difference in the tissue response between cleft palate patients and noncleft patients during orthodontic treatment. PMID:24049331

Tympanogram findings in patients with cleft palates aged six months to seven years

NASA Astrophysics Data System (ADS)

Yanti, A.; Widiarni, D.; Alviandi, W.; Tamin, S.; Mansyur, M.

2017-08-01

Cleft palate is one of the most common congenital craniofacial deformities. Otitis media with effusion (OME) is a middle ear disease having a prevalence of almost 90% in patients with cleft palates. Tympanometry is a fast, safe, non-invasive, and easy tool for diagnosing middle ear disease qualitatively and quantitatively. Studies have been conducted using tympanometry to detect middle ear conditions in patients with cleft palates, but no research has studied tympanogram findings in patients with cleft palates in Indonesia. The aim of this study is to determine the tympanogram findings in Indonesian children aged six months to seven years with cleft palates. This is a cross-sectional study of 30 patients (17 males and 13 females) with Veau classification of palatal clefts aged six months to seven years (median 26.5 months) who underwent tympanometry examinations using a 226 Hztympanometer. Tympanograms were classified using the Jerger/Liden classification. Examinations of 58 ears found that type B tympanograms occurred most frequently (70.7%). The quantitative values of tympanometry analyzed included SAA (0.1-0.2 cm3), TPP value (-197.2-(-146.8 daPa)), Vec value (0.5-0.6 cm3), and gradient value (0.03-0.07 cm3). Using the Fisher test, a significant relationship was found between age and type of tympanogram (p = 0.0039) with the risk of type B and C tympanograms in infants (6-60 months) as high as 4.8 times that of children without cleft palates. The type B tympanogram was most frequently seen in patients with cleft palates aged six months to seven years old with the quantitative values of tympanometry lower than the normal values. Therefore, there was a significant difference in the type of tympanogram seen with age.

Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

PubMed

Wolf, Zena T; Brand, Harrison A; Shaffer, John R; Leslie, Elizabeth J; Arzi, Boaz; Willet, Cali E; Cox, Timothy C; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W B; Murray, Jeffrey C; Wade, Claire M; Marazita, Mary L; Bannasch, Danika L

2015-03-01

Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans.

A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients.

PubMed

Konstantonis, Dimitrios; Alexandropoulos, Alexandros; Konstantoni, Nikoleta; Nassika, Maria

2017-12-01

The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

Effects of Nasoalveolar Molding Therapy on Alveolar and Palatal Cleft Deformities in Unilateral and Bilateral Cleft Lip and Palate.

PubMed

Isik Aslan, Belma; Gülşen, Ayşe; Findikçioğlu, Kemal; Uzuner, Deniz; Üçüncü, Neslihan

2018-03-01

The purpose of this study was to evaluate and compare the efficacy of nasoalveolar molding (NAM) therapy in the improvement of alveolar and palatal cleft deformity on unilateral (UCLP) versus bilateral (BCLP) cleft lip and palate. A total of 19 UCLP (14 boys and 5 girls) and 8 BCLP (7 boys and 1 girl) infants completed NAM therapy were included in this study. Standardized parameters of cleft width of alveol and palate were measured on photocopies taken from the pre- and post-treatment plaster casts. To assess the intragroup differences, paired-samples test in UCLP and Wilcoxon test in BCLP groups were used. Mann-Whitney U test was used to evaluate the differences between the groups. Significant decreases in alveolar and palatal cleft gaps were achieved in an average period of 3.3 ± 1.9 and 3.7 ± 1.6 months in UCLP and BCLP patients, respectively. The alveolar cleft decreased 7.85 ± 4.59 mm in UCLP and 4.25 ± 3.13 and 3.81 ± 3.50 mm in right and left alveolar cleft sides in BCLP, respectively. The palatal clefts were decreased 4.63 ± 2.44 mm in medial and 3.72 ± 2.62 mm in posterior parts in UCLP. The decrements in BCLP were 3.00 ± 2.75 mm in medial and 2.88 ± 2.75 mm in posterior palatal cleft distances. No significant differences were determined in the amount of alveolar or palatal cleft closure between UCLP and BCLP groups. The only decrease in arch width was 1.39 mm in medial part of palate in UCLP. The NAM device provides significant decreases in both alveolar and palatal cleft deformities in UCLP and BCLP infants, as compared with their birth status.

Role of Heterogeneous Macromolecular Crowding and Geometrical Irregularity at Central Excitatory Synapses in Shaping Synaptic Transmission

PubMed Central

Gupta, Rahul; Reneaux, Melissa; Karmeshu

2016-01-01

Besides the geometrical tortousity due to the extrasynaptic structures, macromolecular crowding and geometrical irregularities constituting the cleft composition at central excitatory synapses has a major and direct role in retarding the glutamate diffusion within the cleft space. However, the cleft composition may not only coarsely reduce the overall diffusivity of the glutamate but may also lead to substantial spatial variation in the diffusivity across the cleft space. Decrease in the overall diffusivity of the glutamate may have straightforward consequences to the glutamate transients in the cleft. However, how spatial variation in the diffusivity may further affect glutamate transients is an intriguing aspect. Therefore, to understand the role of cleft heterogeneity, the present study adopts a novel approach of glutamate diffusion which considers a gamma statistical distribution of the diffusion coefficient of glutamate (Dglut) across the cleft space, such that its moments discernibly capture the dual impacts of the cleft composition, and further applies the framework of superstatistics. The findings reveal a power law behavior in the glutamate transients, akin to the long-range anomalous subdiffusion, which leads to slower decay profile of cleft glutamate at higher intensity of cleft heterogeneity. Moreover, increase in the cleft heterogeneity is seen to eventually cause slower-rising excitatory postsynaptic currents with higher amplitudes, lesser noise, and prolonged duration of charge transfer across the postsynaptic membrane. Further, with regard to the conventional standard diffusion approach, the study suggests that the effective Dglut essentially derives from the median of the Dglut distribution and does not necessarily need to be the mean Dglut. Together, the findings indicate a strong implication of cleft heterogeneity to the metabolically cost-effective tuning of synaptic response during the phenomenon of plasticity at individual synapses and also provide an additional factor of variability in transmission across identical synapses. PMID:27907112

Patterns of Orofacial Clefting in New York City From 1983 to 2010: Trends by Racial Background, Birthplace, and Public Health Strategies.

PubMed

Butts, Sydney C; Reynolds, Simone; Gitman, Lyuba; Patel, Prayag; Joseph, Michael

2018-01-01

To determine the role of racial background, public health initiatives, and residence on the prevalence of orofacial clefts (OFCs) in New York City (NYC). Retrospective review of OFC cases from the New York State Congenital Malformations Registry. Patients born with an OFC and all live births to mothers residing in NYC between 1983 and 2010. Orofacial cleft birth prevalence by cleft type, race, and borough of maternal residence for each year and by time period around the implementation of public health interventions including folate supplementation. A total of 3557 cases were reviewed. The prevalence remained stable for cleft palate and cleft lip with or without cleft palate (CL ± P) in sequential time periods of the study. Among CL ± P cases, cleft lip prevalence decreased early in the study compared to increases in cleft lip and palate prevalence. For most years, the prevalence of OFCs was lower among African Americans than whites. A total of 12% to 26% of mothers in 4 of the NYC boroughs deliver outside of their borough of residence, choosing to give birth in Manhattan most often. No difference in OFC prevalence was shown in any of the 5 NYC boroughs. The period prevalence remained relatively stable during the time periods before and after the implementation of folate supplementation for OFCs in NYC. Prevalence of OFC subtypes was lower for most time periods during this study among African Americans compared to whites. Several factors may explain the choice of birthplace outside of the mother's borough of residence.

It's a privilege to smile: impact of cleft lip palate on families.

PubMed

Zeytinoglu, Senem; Davey, Maureen P

2012-09-01

In this article we describe prior cross-sectional and longitudinal research conducted with children who were born with cleft lip and/or palate and their families in the United States and internationally. The findings and clinical implications from different times and cultures are synthesized using the Biopsychosocial Model. Our primary aim is to summarize the attachment styles, cognitive, psychological and social functioning, self-concept, neurological functioning, and speech difficulties prevalent among individuals who are born with cleft lip/palate at different developmental stages (e.g., infancy, toddler, childhood, adolescence). Additionally, bystander reactions to the speech and appearance of individuals coping with cleft lip and/or palate and its effects on the family are described. Finally we examine the diversity of samples from prior clinical research and provide clinical recommendations for more collaborative family-based practice among medical and mental health providers treating families coping with cleft lip and/or palate.

Ambulatory cleft lip surgery: A value analysis.

PubMed

Arneja, Jugpal S; Mitton, Craig

2013-01-01

Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory cleft surgery enhances overall health care value.

Speech evaluation and dental arch shape following pushback palatoplasty in cleft palate patients: Supraperiosteal flap technique versus mucoperiosteal flap technique.

PubMed

Ito, Shizuyo; Noguchi, Makoto; Suda, Yoshiyuki; Yamaguchi, Akira; Kohama, Geniku; Yamamoto, Etsuhide

2006-04-01

The aim of this study was to evaluate and compare the maxillary dental arch shape and speech of cleft palate patients following pushback palatoplasty using either the supraperiosteal flap technique or the mucoperiosteal flap technique. Sixty-two patients (29, cleft palate only; 33, unilateral cleft lip, alveolus and palate) operated on by the supraperiosteal technique and 47 patients (23, cleft palate only; 24 unilateral cleft lip, alveolus and palate) by the mucoperiosteal technique were reviewed in this study. Dental arch shape and speech proficiency at preschool and school age were evaluated in all patients. Dental arch shapes were classified as U type (good dental arch shape) and V type (narrow dental arch shape). In cleft palate only patients, U type was observed in 90% of the supraperiosteal group and 83% of the mucoperiosteal group. In unilateral cleft lip, alveolus and palate patients, U type was observed in 85% of the supraperiosteal group, while only in 33% of the mucoperiosteal group. In cleft palate only patients, normal speech at school age was observed 100% of the supraperiosteal group and 83% of the mucoperiosteal group. In unilateral cleft lip, alveolus and palate patients, normal speech at school age was observed in 97% of the supraperiosteal group and 75% of the mucoperiosteal group. Misarticulation was frequently found in patients with the V type of dental arch shape. It is suggested that pushback palatoplasty using the supraperiosteal technique is more advantageous for speech development compared with the mucoperiosteal technique.

The use of SymNose for quantitative assessment of lip symmetry following repair of complete bilateral cleft lip and palate.

PubMed

Russell, James H B; Kiddy, Harriet C; Mercer, Nigel S

2014-07-01

The SymNose computer program has been proposed as an objective method for the quantitative assessment of lip symmetry following unilateral cleft lip repair. This study aims to demonstrate the use of SymNose in patients with complete bilateral cleft lip and palate (BCLP), a group previously excluded from computer-based analysis. A retrospective cohort study compared several parameters of lip symmetry between BCLP cases and non-cleft controls. 15 BCLP cases aged 10 (±1 year) who had undergone primary repair were recruited from the patient database at the South West Cleft Unit, Frenchay Hospital. Frontal facial photographs were selected for measurement. 15 age-matched controls were recruited from a local school. Lip symmetry was expressed as: percentage mismatch of left vermillion border and upper lip area over the right, horizontal lip tilt and lateral deviation of the lip. A significant increase in lip asymmetry was found in the BCLP group expressed as upper vermillion border mismatch across computer-defined and user-defined midlines (mean difference was 16.4% (p < 0.01) and 17.5% (p < 0.01) respectively). The results suggest that a significant degree of lip asymmetry remains in BCLP patients even after primary repair. This challenges previous assumptions that those with bilateral defects would be relatively symmetrical. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Clinical outcomes of primary palatoplasty in pre-school-aged cleft palate children in Srinagarind hospital: quality of life.

PubMed

Pradubwong, Suteera; Mongkholthawornchai, Siriporn; Keawkhamsean, Natda; Patjanasoontorn, Niramol; Chowchuen, Bowornsilp

2014-10-01

Cleft lips and cleft palates are common congenital anomalies, which affects facial appearance, speech, hearing, teeth alignment and other structures. Craniofacial anomalies and speech disorders are crucial problems in the preschool-aged children (5-6 years old), when they start attending school and become more engaged in the community. This condition, which differentiates them from other students, can lead to teasing or mocking which can cause low-self esteem, an inferiority complex, andfoster bad relationships with friends. Missing class in order to receive treatment and other additional care can affect a student's learning, development and overall-quality of life. The purpose of this research was to study the quality of life in preschool-aged cleftpalate children and satisfaction with their level of speech. This was a retrospective, descriptive study. The data were collected by reviewing medical records of patients with cleft lip and cleft palate aged 5-6 years old who underwent operation and treatment with the Tawanchai Center at Srinagarind Hospital. There were 39patients in this study. Data collection was conducted for 5 months (June to October 2013). The research instruments were: (1) General Demographic Questionnaire, (2) Quality of Life Questionnaire with 5 Domains, and (3) the Satisfaction of Speech Questionnaire. The descriptive statistics, percentages and the standard deviation were analyzed in the present study. The findings revealedfamily information pertaining to CLP treatment and the impact it has on consumption, speech training, hearing test, development, dental treatment, communication skills, participation, referral treatment as well as the quality ofcoordinationfor advanced treatment. The present study revealed that all ofthe aforementioned criteria were met at a high level. Moreover the child's sickness had only a moderate impact on family life. In conclusion, the overall satisfaction was at a very high level. It was concluded that the collaboration of the Tawanchai Cleft Center and the government, as well as with private and non-governmental organizations was exceptional, particularly in regard to providing proper and continuous treatment for patients with cleft lips and/or cleft palate. The findings reflect a good quality of life in the pre-schooled children with cleft lip and cleft palate that received treatment from the Tawanchai Cleft Center at Srinagarind Hospital. Furthermore, the study showed that the problems associated with the condition, only affected the family's lives at a minimal level.

The Effect of Happiness Training Based on Fordyce Model on Perceived Stress in the Mothers of Children with Cleft Lip and Palate.

PubMed

Hemati, Zeinab; Abbasi, Samira; Paki, Somayeh; Kiani, Davood

2017-06-01

Introduction: A child afflicted with facial deformities such as cleft lip and palate usually affects their parents, because of difficulties in nutrition, speech, aesthetics and social connections, and also imposing a lot of stress on them. The aim of this study was to investigate the effects of a happiness program on the perceived stress in the mothers of children with cleft lip and palate. Methods: This study was a quasi-experimental study in which 64 mothers of children with cleft lip and palate were divided by simple random sampling into intervention and control groups (n=64). The program of happiness training was implemented within 10 sessions and the questionnaires of demographics and Cohen perceived stress were filled out prior to and two months after the last session in intervention group. Data analysis was done using SPSS Ver.13. Results: Independent t-test indicated a significant difference in the perceived stress mean score after training in the intervention and control groups. Also paired t-test indicated a significant difference in perceived stress mean score before and after training in the intervention group, but the difference was not statistically significant for the control group. Conclusion: Considering the effect of happiness program on reducing stress in the mothers of children with cleft lip and palate, it is recommended that this model can be used as an intervention in the maternal care for more involvement in the process of treatment and care of their child, in addition to reduce psychological problems in the parents.

Processing of Japanese Cleft Constructions in Context: Evidence from Event-Related Brain Potentials

ERIC Educational Resources Information Center

Yano, Masataka; Tateyama, Yuki; Sakamoto, Tsutomu

2015-01-01

Numerous studies have found "subject gap preference" in relative clauses and cleft constructions in English, French, and other languages. In contrast, previous studies have reported "object gap preference" in cleft constructions in Japanese. However, the effect of integrating a filler and its gap may be influenced by the effect…

Factors contributing to hearing impairment in patients with cleft lip/palate in Malaysia: A prospective study of 346 ears.

PubMed

Cheong, Jack Pein; Soo, Siew Shuin; Manuel, Anura Michelle

2016-09-01

To determine the factors contributing towards hearing impairment in patients with cleft lip/palate. A prospective analysis was conducted on 173 patients (346 ears) with cleft lip and palate (CL/P) who presented to the combined cleft clinic at University Malaya Medical Centre (UMMC) over 12 months. The patients' hearing status was determined using otoacoustic emission (OAE), pure tone audiometry (PTA) and auditory brainstem response (ABR). These results were analysed against several parameters, which included age, gender, race, types of cleft pathology, impact and timing of repair surgery. The patients' age ranged from 1-26 years old. They comprised 30% with unilateral cleft lip and palate (UCLP), 28% with bilateral cleft lip and palate (BCLP), 28% with isolated cleft palate (ICP) and 14% with isolated cleft lip (ICL). Majority of the patients (68.2%) had normal otoscopic findings. Out of the 346 ears, 241 ears (70%) ears had passed the hearing tests. There was no significant relationship between patients' gender and ethnicity with their hearing status. The types of cleft pathology significantly influenced the outcome of PTA and ABR screening results (p < 0.001). There was no significant difference between the repaired and unrepaired cleft groups and the outcome of hearing tests. However, hearing improvement occurred when palatal repair was performed at the age of <1year old (OR = 2.37, CI 1.2 = 4.6, p = 0.01). Majority of the cleft patients had normal hearing (70%). Hearing threshold varied significantly between the different types of cleft pathology. Surgery conferred no significant impact on the hearing outcome unless surgery was performed at the age of <1 year old. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Initial Nutritional Assessment of Infants With Cleft Lip and/or Palate: Interventions and Return to Birth Weight.

PubMed

Kaye, Alison; Thaete, Kristi; Snell, Audrey; Chesser, Connie; Goldak, Claudia; Huff, Helen

2017-03-01

  To assess and quantify cleft team practices with regard to nutritional support in the neonatal period Design :  Retrospective review.   Tertiary pediatric hospital.   One hundred consecutive newborn patients with a diagnosis of cleft lip and/or cleft palate between 2009 and 2012.   Birth weight, cleft type, initial cleft team weight measurements, initial feeding practices, recommended nutritional interventions, and follow-up nutritional assessments.   All patients in the study were evaluated by a registered dietitian and an occupational feeding therapist. Average birth weight and average age at the first cleft team visit were similar for each cleft type: cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP). The calculated age (in days) for return to birth weight was significantly different between cleft types: CL = 13.58 days, CLP = 15.88 days, and CP = 21.93 days. Exclusive use of breast milk was 50% for patients with CL, 30.3% for patients with CLP, and 21.4% for patients with CP. Detailed nutritional interventions were made for 31 patients at the first visit: two with CL, 14 with CLP, and 15 with CP.   Distinct differences were seen in neonatal weight gain between cleft types. There was significantly greater total weight gain for patients with CL at their first visit and significantly slower return to birth weight for patients with isolated CP. Patients with CL required far fewer interventions at the initial assessment and were more likely to be provided breast milk exclusively or in combination with formula. Infants with CP were far less likely to receive any breast milk. Patients with CLP and CP required frequent nutritional interventions.

Prevalence of non-syndromic orofacial clefts among Jews and Arabs, by type, site, gender and geography: a multi-center study in Israel.

PubMed

Shapira, Yehoshua; Haklai, Ziona; Blum, Itay; Shpack, Nir; Amitai, Yona

2014-12-01

Orofacial clefts are the most common craniofacial congenital malformations, with significant anatomic, ethnic, racial and gender differences. To investigate the prevalence, distribution and characteristic features of various types of non-syndromic clefts among Israeli Jews and Arabs. We conducted a retrospective multi-center survey in 13 major hospitals in Israel for the period 1993-2005. To obtain the true prevalence and detailed clinical characteristics, data on liveborn infants with non-syndromic clefts were obtained from the Ministry of Health's National Birth Defect Registry and completed by chart reviews in the 13 surveyed hospitals. Of 976,578 liveborn infants, 684 presented unilateral or bilateral clefts, with a prevalence of 7.00/10,000 live births; 479 were Jews and 205 were Arabs. The prevalence was higher among Arabs compared to Jews (11.12 and 6.22 per 10,000 live births in Arabs and Jews, respectively, P 0.00001). Males had higher cleft rates than females (7.69/10,000 and 6.17/10,000 live births, respectively, P = 0.05). Males had more cleft lips (P < 0.05) and cleft lips with cleft palate (P < 0.001). There was left-side predominance. Newborns of younger mothers (age < 20 years) and of older mothers (age ≥ 45 years) had higher cleft rates than those with mothers in the 20-44 year bracket (P < 0.009). Children born at or above the 5th birth order had a higher cleft rate (P < 0.001). The prevalence of non-syndromic clefts was 7.00/10,000 live births. The markedly higher rate in Arabs is related to the high rate of consanguinity. Both very young and old maternal age represents a higher risk of clefts in their offspring.

Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

PubMed

Wirtz, Nicholas; Sidman, James; Block, William

2016-05-01

Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Novel pathomorphologic classification of capsulo-articular lesions of the pubic symphysis in athletes to predict treatment and outcome.

PubMed

Hopp, Sascha; Ojodu, Ishaq; Jain, Atul; Fritz, Tobias; Pohlemann, Tim; Kelm, Jens

2018-05-01

Radiographic abnormalities of the symphysis as well as the formation of accessory clefts, indicating injury at the rectus-adductor aponeurosis, reportedly relate to longstanding groin pain in athletes. However, yet, no systematic classification for clinical and scientific purposes exists. We aimed to (1) create a radiographic classification based on symphysography; (2) test intra- and interobserver reliability; (3) characterise clinical significance of the morphologic patterns by evaluating success of injection therapy. We retrospectively reviewed symphysography, AP radiographs, and MRI of the pelvis from 70 consecutive competitive athletes, with chronic groin pain. Symphysographs were evaluated for intra- and interobserver variance using cohen's kappa statistics. Morphologic studies of the different contrast distribution patterns and their clinical and radiological correlation with symptom relief were investigated. All patients were followed up to evaluate immediate and long-term response to the initial therapeutic injection with steroid. Four reproducible symphysographic patterns were identified: type 0, no changes; type 1, symphyseal disk degeneration; types 2a with unilateral clefts, bilateral clefts (2b), suprapubic clefts (2c); and type 3, with expanded or multidirectional clefts. Analysis revealed excellent intra (0.94)-and interobserver (0.90) reliability. Our findings showed that 78.6% of our patients had significant short-term improvement enabling early resumption of physiotherapy, only in types 1 and 2 (p = 0.001), while type 0 and 3 did not respond. At follow-up, only 21.8% had permanent pain relief. Regarding the detection of pathologic clefts with symphysography, sensitivity (88%) and specifity (77%) were superior to that of MRI. A reproducible symphysography-based classification of distinct morphologic patterns is proposed. It serves as a predictive tool for response to injection therapy in a select group of pathologic lesions. Complete recovery after injection can only be expected in a lesser percentage, as this might indicate surgical treatment for long-term non-responders.

Speech, language, and reading skills in 10-year-old children with palatal clefts: The impact of additional conditions.

PubMed

Feragen, Kristin Billaud; Aukner, Ragnhild; Særvold, Tone K; Hide, Øydis

2017-03-01

This study examined speech (hypernasality and intelligibility), language, and reading skills in children with a cleft palate, specifically investigating additional conditions to the cleft, in order to differentiate challenges related to a cleft only, and challenges associated with an additional condition. Cross-sectional data collected during routine assessments of speech and language in a centralised treatment setting. Children born with cleft with palatal involvement from four birth cohorts (n=184), aged 10. Speech: SVANTE-N; Language: Language 6-16; Reading: Word Chain Test and Reading Comprehension Test. Descriptive analyses revealed that 123 of the children had a cleft only (66.8%), while 61 children (33.2%) had a cleft that was associated with an additional condition (syndrome, developmental difficulty, attentional difficulties). Due to close associations with the outcome variables, children with specific language impairments and dyslexia were excluded from the sample (n=14). In the total cleft sample, 33.1% had mild to severe hypernasality, and 27.9% had mild to severe intelligibility deviances. Most children with intelligibility and hypernasality scores within the normal range had a cleft without any other condition. A high number of children with developmental difficulties (63.2%) or AD/HD (45.5%) had problems with intelligibility. Hypernasality scores were also associated with developmental difficulties (58.8%), whereas most children with AD/HD had normal hypernasality scores (83.3%). As could be expected, results demonstrated that children with a cleft and an additional condition had language and reading scores below average. Children with a cleft only had language and reading scores within the normal range. Among the children with scores below average, 33.3-44.7% had no other conditions explaining difficulties with language and reading. The findings highlight the need for routine assessments of language and reading skills, in addition to assessments of speech, in children with a cleft, in order to identify potential problems as early as possible. Study designs need to take additional difficulties into account, so that potential problems with language and reading are not ascribed the cleft diagnosis, and can be followed by appropriate treatment and interventions. Copyright © 2017 Elsevier Inc. All rights reserved.

The occult submucous cleft palate.

PubMed

Kaplan, E N

1975-10-01

We have studied 41 patients with classic submucous cleft and 32 cases with occult submucous cleft. Both groups have the same anatomic abnormality that leads to velar dysfunction-the insertion of the palate muscles onto the hard palate rather than onto the midline soft palate raphe. However, the occult submucous cleft palate does not have the classic triad of bifid uvula, hard palate bony notch, and furrow in the midline of the soft palate. Characteristic facial features, cephalmetric x-rays, and cine voice studies can help make a presumptive diagnosis of occult submucous cleft palate. Surgical management includes a diagnostic palate exploration to identify muscle configuration followed by levator muscle sling reconstruction, palate pushback, and pharyngeal flap. Excellent speech results are obtained except with patients having palate paresis.

Screening for obstructive sleep apnea in children with syndromic cleft lip and/or palate.

PubMed

Silvestre, Jason; Tahiri, Youssef; Paliga, J Thomas; Taylor, Jesse A

2014-11-01

Craniofacial malformations including cleft lip and/or palate (CL/P) increase risk for obstructive sleep apnea (OSA). While 30% of CL/P occurs in the context of underlying genetic syndromes, few studies have investigated the prevalence of OSA in this high-risk group. This study aims to determine the incidence and risk factors of positive screening for OSA in this complex patient population. The Pediatric Sleep Questionnaire (PSQ) was prospectively administered to all patients cared for by the cleft lip and palate clinic at the Children's Hospital of Philadelphia between January 2011 and August 2013. The PSQ is a 22-item, validated screening tool for OSA with a sensitivity and specificity of 0.83 and 0.87 in detecting an apnea-hypopnea index (AHI) >5/hour in healthy children. The Fisher exact and Chi-square tests were used for purposes of comparison. 178 patients with syndromic CL/P completed the PSQ. Mean cohort age was 8.1 ± 4.4 years. Patients were predominately female (53.9%), Caucasian (78.1%), and had Veau Class II cleft (50.6%). Craniofacial syndromes included isolated Pierre Robin Sequence (PRS) (29.8%), 22q11.2 deletion syndrome (14.6%), Van der Woude syndrome (6.7%), and other rare genetic abnormalities (28.8%). The overall incidence of positive OSA screening was 32.0%. Males were at increased risk for positive OSA screening (P = 0.030), as were non-Caucasians (P = 0.044). Symptoms with the highest positive predictive value for OSA were "others comment on child appearing sleepy" (76.2%) and "stops breathing during the night" (75.0%). Notably, patients with 22q11.2 deletion syndrome were at highest risk for positive screens (50.0%, P = 0.042). Nearly a third of our patients with syndromic CL/P screened positively for OSA (32.0%), highlighting the importance of screening in this at-risk population. Future work will correlate screening results with polysomnograms to help validate these findings. Diagnostic, III. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Prevalence of cleft lip and/or palate in children from Lodz between years 1981-2010.

PubMed

Antoszewski, Bogusław; Fijałkowska, Marta

2016-03-01

Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981-2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April 1997. The team has managed to obtain data, from the Registry, concerning the total number of all live born infants and the number of children with cleft lip and/or palate, who were born in Lodz, between 1998 and 2010. In years 1981-2010, 319 children, in 210 952 live born infants, were born with cleft lip and/or palate in Lodz. The isolated cleft palate was observed more frequently in girls and the unilateral cleft of lip and palate in boys. In all three decades palate clefts are more common whereas bilateral lip, alveolus and palate clefts are more infrequent. A small tendency to decrease in actual cleft lip and/or palate frequency among children, in the period of 30 years, is observed in Lodz. Over the years it has still been observed that the isolated cleft palate is the most common type of defect. © 2015 Japanese Teratology Society.

Cleft Lip and Palate

MedlinePlus

... Safe Videos for Educators Search English Español Cleft Lip and Cleft Palate KidsHealth / For Kids / Cleft Lip and Cleft Palate ... the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a gap or split ...

The management of Otitis Media with Effusion in children with cleft palate (mOMEnt): a feasibility study and economic evaluation.

PubMed

Bruce, Iain; Harman, Nicola; Williamson, Paula; Tierney, Stephanie; Callery, Peter; Mohiuddin, Syed; Payne, Katherine; Fenwick, Elisabeth; Kirkham, Jamie; O'Brien, Kevin

2015-08-01

Cleft lip and palate are among the most common congenital malformations, with an incidence of around 1 in 700. Cleft palate (CP) results in impaired Eustachian tube function, and 90% of children with CP have otitis media with effusion (OME) histories. There are several approaches to management, including watchful waiting, the provision of hearing aids (HAs) and the insertion of ventilation tubes (VTs). However, the evidence underpinning these strategies is unclear and there is a need to determine which treatment is the most appropriate. To identify the optimum study design, increase understanding of the impact of OME, determine the value of future research and develop a core outcome set (COS) for use in future studies. The management of Otitis Media with Effusion in children with cleft palate (mOMEnt) study had four key components: (i) a survey evaluation of current clinical practice in each cleft centre; (ii) economic modelling and value of information (VOI) analysis to determine if the extent of existing decision uncertainty justifies the cost of further research; (iii) qualitative research to capture patient and parent opinion regarding willingness to participate in a trial and important outcomes; and (iv) the development of a COS for use in future effectiveness trials of OME in children with CP. The survey was carried out by e-mail with cleft centres. The qualitative research interviews took place in patients' homes. The COS was developed with health professionals and parents using a web-based Delphi exercise and a consensus meeting. Clinicians working in the UK cleft centres, and parents and patients affected by CP and identified through two cleft clinics in the UK, or through the Cleft Lip and Palate Association. The clinician survey revealed that care was predominantly delivered via a 'hub-and-spoke' model; there was some uncertainty about treatment strategies; it is not current practice to insert VTs at the time of palate repair; centres were in a position to take part in a future study; and the response rate to the survey was not good, representing a potential concern about future co-operation. A COS reflecting the opinions of clinicians and parents was developed, which included nine core outcomes important to both health-care professionals and parents. The qualitative research suggested that a trial would have a 25% recruitment rate, and although hearing was a key outcome, this was likely to be due to its psychosocial consequences. The VOI analysis suggested that the current uncertainty justified the costs of future research. There exists significant uncertainty regarding the best management strategy for persistent OME in children with clefts, reflecting a lack of high-quality evidence regarding the effectiveness of individual treatments. It is feasible, cost-effective and of significance to clinicians and parents to undertake a trial examining the effectiveness of VTs and HAs for children with CP. However, in view of concerns about recruitment rate and engagement with the clinicians, we recommend that a trial with an internal pilot is considered. The National Institute for Health Research Health Technology Assessment programme. This study was part-funded by the Healing Foundation supported by the Vocational Training Charitable Trust who funded trial staff including the study co-ordinator, information systems developer, study statistician, administrator and supervisory staff.

Current concepts in cleft care: A multicenter analysis.

PubMed

Thiele, Oliver C; Kreppel, Matthias; Dunsche, Anton; Eckardt, Andre M; Ehrenfeld, Michael; Fleiner, Bernd; Gaßling, Volker; Gehrke, Gerd; Gerressen, Marcus; Gosau, Martin; Gröbe, Alexander; Haßfeld, Stefan; Heiland, Max; Hoffmeister, Bodo; Hölzle, Frank; Klein, Cornelius; Krüger, Maximilian; Kübler, Alexander C; Kübler, Norbert R; Kuttenberger, Johannes J; Landes, Constantin; Lauer, Günter; Martini, Markus; Merholz, Erich T; Mischkowski, Robert A; Al-Nawas, Bilal; Nkenke, Emeka; Piesold, Jörn U; Pradel, Winnie; Rasse, Michael; Rachwalski, Martin; Reich, Rudolf H; Rothamel, Daniel; Rustemeyer, Jan; Scheer, Martin; Schliephake, Henning; Schmelzeisen, Rainer; Schramm, Alexander; Schupp, Wiebke; Spitzer, Wolfgang J; Stocker, Erwin; Stoll, Christian; Terheyden, Hendrik; Voigt, Alexander; Wagner, Wilfried; Weingart, Dieter; Werkmeister, Richard; Wiltfang, Jörg; Ziegler, Christoph M; Zöller, Joachim E

2018-04-01

The current surgical techniques used in cleft repair are well established, but different centers use different approaches. To determine the best treatment for patients, a multi-center comparative study is required. In this study, we surveyed all craniofacial departments registered with the German Society of Maxillofacial Surgery to determine which cleft repair techniques are currently in use. Our findings revealed much variation in cleft repair between different centers. Although most centers did use a two-stage approach, the operative techniques and timing of lip and palate closure were different in every center. This shows that a retrospective comparative analysis of patient outcome between the participating centers is not possible and illustrates the need for prospective comparative studies to establish the optimal technique for reconstructive cleft surgery. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Candidate Gene/Loci Studies in Cleft Lip/Palate and Dental Anomalies Finds Novel Susceptibility Genes for Clefts

PubMed Central

Vieira, Alexandre R.; McHenry, Toby G.; Daack-Hirsch, Sandra; Murray, Jeffrey C.; Marazita, Mary L.

2009-01-01

We revisited 42 families with two or more cleft affected siblings that participated in previous studies and collected complete dental information. Genotypes from 1489 single nucleotide polymorphism (SNP) markers located in 150 candidate genes/loci were reanalyzed. Two sets of association analyses were carried out. First we ran the analysis solely on the cleft status. Second we assigned affection to any cleft or dental anomaly (tooth agenesis, supernumerary teeth, and microdontia), and repeated the analysis. Significant over-transmission was seen for a SNP in ANKS6 (rs4742741, 9q22.33; p=0.0004) when a dental anomaly phenotype was included in the analysis. Significant over-transmission was also seen for a SNP in ERBB2 (rs1810132, 17q21.1; p=0.0006). In the clefts only data, the most significant result was also for ERBB2 (p=0.0006). Other markers with suggestive p-values included IRF6 and 6q21-q23 loci. In contrast to the above results, suggestive over-transmission of markers in GART, DPF3, and NRXN3 were seen only when the dental anomaly phenotype was included in the analysis. These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Thus, including dental anomalies information in the genetics analysis of cleft lip and palate will provide new opportunities to map susceptibility loci for clefts. PMID:18978678

Current national incidence, trends, and health care resource utilization of cleft lip-cleft palate.

PubMed

Basseri, Benjamin; Kianmahd, Benjamin D; Roostaeian, Jason; Kohan, Emil; Wasson, Kristy L; Basseri, Robert J; Bradley, James P

2011-03-01

Available reports on the epidemiology of cleft lip, cleft palate, and cleft lip-cleft palate have been numerous yet inconsistent, and have originated only from institutional or regional studies. The need for current national data and the recognition of recent trends exists. The authors examined the Kids' Inpatient Database to obtain national information on pediatric orofacial cleft discharges from 1997 to 2007. The authors examined patient and hospital characteristics to discern differences in use of care, hospital charges, type of hospital, untoward events, and other variables among various groups. A detailed investigation searching for significant trends during the 6-year study period was also conducted. Trends appreciated from 1997 to 2007 included (1) an increase in cleft operations performed at teaching hospitals compared with nonteaching hospitals (teaching increased 13.4 percent and nonteaching decreased 15.8 percent); (2) an increase in the mean overall charges (74.5 percent increase; p < 0.001) and a rate of rise higher than that of aggregate charges (60 percent; p < 0.001); and (3) a lower rate of perioperative complications in teaching hospitals from 2000 to 2007, ranging from 14 to 27 percent less than in nonteaching hospitals. The authors' data show that there is a current trend of cleft patients receiving treatment at teaching hospitals, with higher costs and decreasing complications. An understanding of such trends and disparities in resource use among various patient, hospital, and geographic settings is important for physicians and policy makers.

Teaching Palatoplasty Using a High-Fidelity Cleft Palate Simulator.

PubMed

Cheng, Homan; Podolsky, Dale J; Fisher, David M; Wong, Karen W; Lorenz, H Peter; Khosla, Rohit K; Drake, James M; Forrest, Christopher R

2018-01-01

Cleft palate repair is a challenging procedure for cleft surgeons to teach. A novel high-fidelity cleft palate simulator has been described for surgeon training. This study evaluates the simulator's effect on surgeon procedural confidence and palatoplasty knowledge among learners. Plastic surgery trainees attended a palatoplasty workshop consisting of a didactic session on cleft palate anatomy and repair followed by a simulation session. Participants completed a procedural confidence questionnaire and palatoplasty knowledge test immediately before and after the workshop. All participants reported significantly higher procedural confidence following the workshop (p < 0.05). Those with cleft palate surgery experience had higher procedural confidence before (p < 0.001) and after (p < 0.001) the session. Palatoplasty knowledge test scores increased in 90 percent of participants. The mean baseline test score was 28 ± 10.89 percent and 43 ± 18.86 percent following the workshop. Those with prior cleft palate experience did not have higher mean baseline test scores than those with no experience (30 percent versus 28 percent; p > 0.05), but did have significantly higher scores after the workshop (61 percent versus 35 percent; p < 0.05). All trainees strongly agreed or agreed that the simulator should be integrated into training and they would use it again. This study demonstrates the effective use of a novel cleft palate simulator as a training tool to teach palatoplasty. Improved procedural confidence and knowledge were observed after a single session, with benefits seen among trainees both with and without previous cleft experience.

We can predict postpalatoplasty velopharyngeal insufficiency in cleft palate patients.

PubMed

Leclerc, Jacques E; Godbout, Audrey; Arteau-Gauthier, Isabelle; Lacour, Sophie; Abel, Kati; McConnell, Elisa-Maude

2014-02-01

To find an anatomical measurement of the cleft palate (or a calculated parameter) that predicts the occurrence of velopharyngeal insufficiency (VPI) after palatal cleft repair. Retrospective cohort study. Charts were reviewed from cleft palate patients who underwent palatoplasty by the Von Langenbeck technique for isolated cleft palate or Bardach two-flap palatoplasty for cleft lip-palate. Seven anatomical cleft parameters were prospectively measured during the palatoplasty procedure. Three blinded speech-language pathologists retrospectively scored the clinically assessed VPI at 4 years of age. The recommendation of pharyngoplasty was also used as an indicator of VPI. From 1993 to 2008, 67 patients were enrolled in the study. The best predicting parameter was the ratio a/(30 - b1), in which a is defined as the posterior gap between the soft palate and the posterior pharyngeal wall and b1 is the width of the cleft at the hard palate level. An a/(30 - b1) ratio >0.7 to 0.8 is associated with a higher risk of developing VPI (relative risk = 2.2-5.1, sensitivity = 72%-81%, P < .03). The width of the cleft at the hard palate level and the posterior gap between the soft palate and the posterior pharyngeal wall were found to be the most significant parameters in predicting VPI. The best correlation was obtained with the ratio a/(30 - b1). 4. Copyright © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

Team approach concept in management of oro-facial clefts: a survey of Nigerian practitioners.

PubMed

Akinmoladun, Victor I; Obimakinde, Obitade S

2009-05-10

Cleft palate craniofacial teams have evolved across the globe in the last 20 years in compliance with the interdisciplinary concept of management of oro-facial clefts. An interdisciplinary care allows a coordinated treatment protocol for the patient. The objective of this study was to evaluate oro-facial cleft care in Nigeria with particular emphasis on the compliance of the practitioners to the team approach concept. A snapshot survey was conducted among specialists that attended the Pan African Congress on Cleft Lip and Palate, at the International Institute of Tropical Agriculture, Nigeria in February 2007. Sixty three respondents successfully completed and returned the questionnaire for analysis. Mean age of respondents was 43.5 years and the range was 38-62 years.Male to female ratio was 2.7:1. Oral and Maxillofacial Surgeons and Plastic Surgeons constituted the majority of respondents (38.1% and 22.2%) respectively. Only 47.6% (n = 30) of the specialists belonged to cleft teams. Majority of Oral and Maxillofacial Surgeons and Plastic Surgeons belonged to cleft teams (70% and 63.3% respectively) while speech pathologists and orthodontists were less represented (20% and 36.7% respectively) in teams. Findings from this study suggests that interdisciplinary care for the cleft patient does not appear to have been fully embraced in Nigeria. This may be a result of several reasons ranging from non availability of the requisite specialists, the relatively young age of cleft care practice in this part of the world to the poor state of infrastructure.

Storm Enhanced Density (SED) plumes as possible suppliers of dayside cleft ion fountain

NASA Astrophysics Data System (ADS)

Horwitz, James

Foster et al. [2002] have observed elevated ionospheric density regions being convected from the subauroral plasmaspheric region toward noon, in association with convection of plasmaspheric tails in the dayside magnetosphere. These so-called Storm Enhanced Density (SED) regions could serve as ionospheric plasma source populations for cleft ion fountain outflows. Here we examine this scenario and employ our fluid-kinetic ionospheric plasma transport code to simulate the entry of a high-density "plasmasphere-like" flux tube entering the cleft region and subjected to an episode of wave-driven transverse ion heating. We find that such pronounced intervals of SED at F-region and topside altitudes passing through regions of CIF processes indeed appear capable of supporting episodes of strong CIF outflows. Foster, J. C., P. J. Erickson, A. J. Coster, J. Goldstein, and F. J. Rich, Ionospheric signatures of plasmaspheric tails, Geophys. Res. Lett., 29(13), 1623, doi:10.1029/2002GL015067, 2002.

Branchial anomalies in children.

PubMed

Bajaj, Y; Ifeacho, S; Tweedie, D; Jephson, C G; Albert, D M; Cochrane, L A; Wyatt, M E; Jonas, N; Hartley, B E J

2011-08-01

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years. All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study. In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome. Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type of anomaly of origin of the anomaly. Complete excision is essential for good outcomes. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

The Effect of Cleft Size in Infants With Unilateral Cleft Lip and Palate on Mixed Dentition Dental Arch Relationship.

PubMed

Russell, Lisa M; Long, Ross E; Romberg, Elaine

2015-09-01

To determine the relationship between infant cleft size and dental arch relationship in the mixed dentition in patients with complete unilateral cleft lip and palate. Retrospective analysis of mixed longitudinal records. A total of 29 consecutively enrolled patients with unilateral cleft lip and palate participated in a longitudinal study that included dental casts prior to lip surgery (T1: age 1 month), prior to palate surgery (T2: age 10 months), and in mixed dentition (T3: age 9 years). All infants were managed with lip repair (2.5 months), hard palate repair (12 months), and soft palate repair (16 months) but without any presurgical orthopedic treatment and no orthodontic intervention prior to mixed dentition records. The outcome measures included determination of an infant cleft severity ratio, defined as the ratio of palatal cleft area to palatal surface area, at both T1 and T2, and the 9-year-old (T3) dental arch relationship as determined using the GOSLON Yardstick. The correlation between the infant cleft severity ratio at T1 and T2 and the later GOSLON Yardstick score at T3 was determined using Pearson r. The intrarater reliability of the infant cleft severity ratio was assessed with Pearson r and the interrater reliability of the GOSLON Yardstick ratings, by weighted kappa. Reliability for the infant cleft severity ratio method was r = .92 to .95, and for GOSLON ratings κ = .81 to .91. There was no significant correlation between 1-month infant cleft severity ratio and GOSLON (r = .3) and 10-month infant cleft severity ratio and GOSLON (r = .1). Cleft size versus the amount of palatal tissue available for repair and concern over more scarring with a greater infant cleft severity ratio were not factors in affecting the eventual dental arch relationship.

Simultaneous maxillary distraction osteogenesis using a twin-track distraction device combined with alveolar bone grafting in cleft patients: preliminary report of a technique.

PubMed

Suzuki, Eduardo Yugo; Watanabe, Masayo; Buranastidporn, Boonsiva; Baba, Yoshiyuki; Ohyama, Kimie; Ishii, Masatoshi

2006-01-01

The simultaneous use of cleft reduction and maxillary advancement by distraction osteogenesis has not been applied routinely because of the difficulty in three-dimensional control and stabilization of the transported segments. This report describes a new approach of simultaneous bilateral alveolar cleft reduction and maxillary advancement by distraction osteogenesis combined with autogenous bone grafting. A custom-made Twin-Track device was used to allow bilateral alveolar cleft closure combined with simultaneous maxillary advancement, using distraction osteogenesis and a rigid external distraction system in a bilateral cleft lip and palate patient. After a maxillary Le Fort I osteotomy, autogenous iliac bone graft was placed in the cleft spaces before suturing. A latency period of six days was observed before activation. The rate of activation was one mm/d for the maxillary advancement and 0.5 mm/d for the segmental transport. Accordingly, the concave facial appearance was improved with acceptable occlusion, and complete bilateral cleft closure was attained. No adjustments were necessary to the vector of the transported segments during the activation and no complications were observed. The proposed Twin-Track device, based on the concept of track-guided bone transport, permitted three-dimensional control over the distraction processes allowing simultaneous cleft closure, maxillary distraction, and autogenous bone grafting. The combined simultaneous approach is extremely advantageous in correcting severe deformities, reducing the number of surgical interventions and, consequently, the total treatment time.

Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

PubMed

Morselli, Paolo G; Pinto, Valentina; Negosanti, Luca; Firinu, Antonella; Fabbri, Erich

2012-09-01

The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.

The use of throat packs in pediatric cleft lip/palate surgery: a retrospective study.

PubMed

Smarius, B J A; Guillaume, C H A L; Jonker, G; van der Molen, A B Mink; Breugem, C C

2018-02-22

Throat packs are commonly used to prevent ingestion or aspiration of blood and other debris during cleft lip/palate surgery. However, dislodgement or (partial) retainment after extubation could have serious consequences. The aim of the present study was to investigate the effect of omitting pharyngeal packing during cleft lip/palate surgery on the incidence of early postoperative complications in children. A retrospective study was performed on all children who underwent cleft lip/palate surgery at the Wilhelmina Children's Hospital. This study compared the period January 2010 through December 2012 when pharyngeal packing was applied according to local protocol (group A) with the period January 2013 till December 2015 when pharyngeal packing was no longer applied after removal from the protocol (group B). Data were collected for sex, age at operation, cleft lip/palate type, type of repair, lateral incisions, length of hospital stay, and complications in the first 6 weeks after surgery. Early complications included wound dehiscence, postoperative bleeding, infection, fever, upper respiratory tract infection (URTI), and lower respiratory tract infection (LRTI). This study included 489 cleft lip/palate operations (group A n = 246, group B n = 243). A total of 39 (15.9%) early complications were recorded in group A and a total of 40 (16.5%) in group B. There were no significant differences (P = 0.902) in complications between the two groups; however, there was a significant difference (P < 0.001) in length of hospital stay between the two groups (group A 3.6 days vs group B 3.2 days). Omitting routine placement of throat packs in cleft lip/palate surgery was not associated with an increased early postoperative complication rate. Therefore, the traditional, routine placement of a throat pack during cleft lip/palate surgery can be questioned. The traditional, routine placement of a throat pack during cleft lip/palate surgery can be questioned.

Presurgical cleft lip anthropometrics and dental arch relationships in patients with complete unilateral cleft lip and palate.

PubMed

Antonarakis, Gregory S; Adibfar, Alex; Tompson, Bryan D; Paedo, D; Daskalogiannakis, John; Fisher, David M

2015-05-01

To investigate associations between anthropometric lip measurements and dental arch relationships in patients with complete unilateral cleft lip and palate (CUCLP). Retrospective cross-sectional study. Children with CUCLP. Anthropometric lip measurements, made immediately prior to lip repair, were available for each patient. The dental arch relationships were evaluated on dental study casts (8.6 ± 0.9 years) taken prior to any orthodontic treatment and prior to alveolar bone graft, using the modified Huddart and Bodenham (MHB) scoring system. The presence of associations between anthropometric lip measurements and dental arch relationships was determined using linear regression analysis. In the 63 patients included in the study, the cleft lateral lip element was deficient in height in 87% and in transverse width in 86% of patients. Patients with more deficient cleft-side lateral lip height were more likely to present with more negative MHB scores (r = .443; P < .001). Conversely, patients with more deficient cleft-side lateral lip transverse width more often presented with more positive MHB scores (r = .281; P = .025). In patients with CUCLP, there is a wide variability in the degree of deficiency of the cleft-side lateral lip element, both in the vertical and in the transverse dimension. The extent of this deficiency may, in part, predict the resulting dental arch relationships.

Social life aspects of young adults with cleft lip and palate: grounded theory approach.

PubMed

Chetpakdeechit, Woranuch; Hallberg, Ulrika; Hagberg, Catharina; Mohlin, Bengt

2009-01-01

The findings of many questionnaire and inventory studies suggest that people with cleft lip and/or palate report a decreased quality of life. Common problems include dissatisfaction with the external appearance of the lips and nose, speech problems, depression, and anxiety. This qualitative study aimed to explore the subjective perceptions and values of young adults with clefts, particularly with regard to their social lives. Twelve persons participated in an in-depth interview. Among those, seven had a repaired isolated cleft palate involving only the hard/soft palate. Five had a repaired bilateral cleft lip and palate that had been a continuous lesion of the lip, the alveolar process, and the palate. A grounded theory approach was used to conduct and analyze the interviews. The study revealed seven important categories--hoping to be like other people, being treated differently from others, experiencing deviation from others, regarding oneself as being different from others, lack of recognition, low self-esteem, and receiving recognition from significant others--with hoping to be like other people as the core category. Young adults with either cleft lip and palate or isolated cleft palate who received recognition from significant others reported increased self-esteem and greater ability to cope with their social lives.

Cleft lip and palate in context: Learning from, and adding to, the sociological literature on long-term conditions.

PubMed

Abualfaraj, Raed; Daly, Blanaid; McDonald, Fraser; Scambler, Sasha

2018-07-01

Cleft lip and palate is a common congenital anomaly affecting males and females. While there is psychological research on cleft lip and palate, there is relatively little research exploring the social context of cleft lip and palate and the experiences of living with the condition on a daily basis. Drawing on common themes emerging from sociological work which have explored the experiences of people living with long-term conditions (uncertainty, social relations, self-esteem and self-image and biomedical concerns), we argue that these themes can be used to help elucidate the experiences of people living with cleft lip and palate. Within this framework, the findings of a qualitative study exploring the experiences of people living with cleft lip and palate are presented. The results suggest that all four themes can be found within the accounts of people living with cleft lip and palate, and there are many commonalities between the experiences of these people and those living with other long-term conditions. Conversely there are interesting areas of divergence. Unlike most long-term conditions, cleft lip and palate is not degenerative and treatment means symptoms will reduce over time. This is reflected in narratives around 'normality' as the endpoint of the care pathway. In addition, prenatal diagnosis means that the vast majority of participants within this study were born into, and grew up within, the care pathway. This has implications for the way in which cleft lip and palate is understood and the provision of information, relationships with members of the care team over time and the temporal and contextualised impact of cleft lip and palate on social relations and the self.

Comparative Evaluation of the Pharyngeal Airways and Related Soft Tissues of Unilateral and Bilateral Cleft Lip and Palate Patients With the Noncleft Individuals.

PubMed

Aras, Isil; Dogan, Servet

2017-01-01

  This study is a comparison of pharyngeal airways and associated soft tissues of unilateral and bilateral cleft lip and palate patients with the noncleft individuals.   Twenty-four unilateral cleft lip and palate patients (UCLP), 21 bilateral cleft lip and palate patients (BCLP), and 26 noncleft patients (NC) between ages 15 to 17 were included in the study. Eleven linear, 1 angular, and 1 proportional measurements were carried out on pretreatment lateral cephalometric head films of these individuals.   The nasopharyngeal depths were markedly reduced in BCLP when compared with the NC (P < .001) and UCLP (P < .01) with a significant difference (P < .01) also among UCLP and NC. Minimum space behind the tongue concerning BCLP and UCLP were significantly lower compared to the NC (P < .001 and P < .01, respectively). In pairwise comparison among the clefts, BCLP showed significant (P < .05) narrowing of this distance. Tongue heights and velar lengths were significantly (P < .001) lower in cleft groups compared to the controls. Similarly, the hyoid bone was positioned in a significantly (P < .01) anterior and inferior direction in cleft patients. Comparison of the mean ratio of velar length to nasopharyngeal depth of the three groups revealed significant (P < .001) inadequacies in cleft patients with significantly (P < .05) more severely reduced values in BCLP.   Pharyngeal airways and involved soft tissues of cleft patients show serious inadequacies compared to controls, with significant diversities among cleft types pertaining to some of the parameters investigated. It should be kept in mind that these variations can influence function in terms of respiration and phonation.

Parental cigarette smoking, transforming growth factor-alpha gene variant and the risk of orofacial cleft in Iranian infants

PubMed Central

Ebadifar, Asghar; Hamedi, Roya; KhorramKhorshid, Hamid Reza; Kamali, Koorosh; Moghadam, Fatemeh Aghakhani

2016-01-01

Objective(s): We investigated the influence of genetic variation of the transforming growth-factor alpha (TGFA) locus on the relationship between smoking and oral clefts. Materials and Methods: In this study 105 Iranian infants with non-syndromic cleft lip/palate and 218 controls with non-cleft birth defects were examined to test for associations among maternal exposures, genetic markers, and oral clefts. Maternal and parental smoking histories during pregnancy were obtained through questionnaire. DNA was extracted from newborn screening blood samples, and genotyping of the BamHI polymorphism in the TGFA gene was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. A number of factors including gender of the newborns, type of oral cleft, consanguinity of the parents, as well as the mother’s age and education were evaluated as potential confounders and effect modifiers. Results: Maternal smoking, in the absence of paternal smoking, was associated with an increased risk for CL/P (OR = 19.2, 95% CI = [(6.2-59.5)]) and cleft palate only (OR =48.7, 95% CI = [(8-29.3)]). If both parents smoked, risks were generally greater (OR = 55.6, 95% CI = [12-20.25]). Analyses for the risk of clefting from maternal smoking, stratified by the presence or absence of the TGFA/BamH1variant, revealed that the risk of clefting among the infants with the TGFA/BamH1 variant when their mothers smoked cigarettes was much greater than the infants who had non-smoker mothers (P=0.001, OR=10.4,95% CI=[3.2,33.6]). Conclusion: The results of this study indicate that first-trimester maternal smoking and infant TGFA locus mutations are both associated with nonsyndromic cleft lip and/or palate (CL/P). PMID:27279979

Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on Cleft Lip and Palate.

PubMed

Adetayo, Oluwaseun; Ford, Rachel; Martin, Mark

2012-01-01

The goals of this study were to delineate the protocols employed for managing patients with cleft lip and palate deformities, delineate the challenges facing practitioners and patients, and to determine the patient and physician barriers to cleft care delivery in the region. Survey questionnaires were administered to practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP), which took place in Ibadan, Nigeria, West Africa from February 4-7, 2007. The conference included 225 participants, representing 17 African countries Protocols for repair of cleft lip and palate deformities were varied, with Millard's and von Langenbeck's techniques being the preferred approach for the management of cleft lip and palate deformities, respectively. A large proportion of providers have limited access to core cleft care supporting teams, especially speech language pathologists, orthodontists, and audiologists. Several challenging barriers to cleft care were also identified at both the institutional and individual levels and are reported. Geographic separation in Africa presents a similar challenge due to isolationism as it does to surgeons in Europe. Specific to Africa are the increased barriers to care, and economic and financial hardship at various levels. A focus on funding, team building, infrastructural support, and patient education appear to be crucial in improving the care and lives of children with facial clefts in Africa.

The gingival Stillman's clefts: histopathology and cellular characteristics.

PubMed

Cassini, Maria Antonietta; Cerroni, Loredana; Ferlosio, Amedeo; Orlandi, Augusto; Pilloni, Andrea

2015-01-01

Stillman's cleft is a mucogingival triangular-shaped defect on the buccal surface of a root with unknown etiology and pathogenesis. The aim of this study is to examine the Stillman's cleft obtained from excision during root coverage surgical procedures at an histopathological level. Harvesting of cleft was obtained from two periodontally healthy patients with a scalpel and a bevel incision and then placed in a test tube with buffered solution to be processed for light microscopy. Microscopic analysis has shown that Stillman's cleft presented a lichenoid hand-like inflammatory infiltration, while in the periodontal patient an inflammatory fibrous hyperplasia was identified. Stillman's cleft remains to be investigated as for the possible causes of such lesion of the gingival margin, although an inflammatory response seems to be evident and active from a strictly histopathological standpoint.

Preservation of protein clefts in comparative models.

PubMed

Piedra, David; Lois, Sergi; de la Cruz, Xavier

2008-01-16

Comparative, or homology, modelling of protein structures is the most widely used prediction method when the target protein has homologues of known structure. Given that the quality of a model may vary greatly, several studies have been devoted to identifying the factors that influence modelling results. These studies usually consider the protein as a whole, and only a few provide a separate discussion of the behaviour of biologically relevant features of the protein. Given the value of the latter for many applications, here we extended previous work by analysing the preservation of native protein clefts in homology models. We chose to examine clefts because of their role in protein function/structure, as they are usually the locus of protein-protein interactions, host the enzymes' active site, or, in the case of protein domains, can also be the locus of domain-domain interactions that lead to the structure of the whole protein. We studied how the largest cleft of a protein varies in comparative models. To this end, we analysed a set of 53507 homology models that cover the whole sequence identity range, with a special emphasis on medium and low similarities. More precisely we examined how cleft quality - measured using six complementary parameters related to both global shape and local atomic environment, depends on the sequence identity between target and template proteins. In addition to this general analysis, we also explored the impact of a number of factors on cleft quality, and found that the relationship between quality and sequence identity varies depending on cleft rank amongst the set of protein clefts (when ordered according to size), and number of aligned residues. We have examined cleft quality in homology models at a range of seq.id. levels. Our results provide a detailed view of how quality is affected by distinct parameters and thus may help the user of comparative modelling to determine the final quality and applicability of his/her cleft models. In addition, the large variability in model quality that we observed within each sequence bin, with good models present even at low sequence identities (between 20% and 30%), indicates that properly developed identification methods could be used to recover good cleft models in this sequence range.

Medications Used to Treat Nausea and Vomiting of Pregnancy and the Risk of Selected Birth Defects

PubMed Central

Anderka, Marlene; Mitchell, Allen A.; Louik, Carol; Werler, Martha M.; Hernández-Diaz, Sonia; Rasmussen, Sonja A.

2012-01-01

Background Nausea and vomiting of pregnancy (NVP) occurs in up to 80% of pregnant women, yet its association with birth outcomes is not clear. Several medications are used for the treatment of NVP; however, data are limited on their possible associations with birth defects. Methods Using data from the National Birth Defects Prevention Study (NBDPS), a multi-site population-based case-control study, we examined whether NVP or its treatment was associated with the most common non-cardiac defects in the NBDPS (non-syndromic cleft lip with or without cleft palate (CL/P), cleft palate alone (CP), neural tube defects (NTDs), and hypospadias) compared to randomly-selected non-malformed live births. Results Among the 4524 cases and 5859 controls included in this study, 67.1% reported first trimester NVP, and 15.4% of them reported using at least one agent for NVP. Nausea and vomiting of pregnancy was not associated with CP or NTDs, but modest risk reductions were observed for CL/P (aOR=0.87, 0.77–0.98), and hypospadias (OR=0.84, 0.72–0.98). In regards to treatments for NVP in the first trimester, the following adjusted associations were observed with an increased risk: proton pump inhibitors and hypospadias (aOR=4.36, 1.21–15.81), steroids and hypospadias (aOR=2.87, 1.03–7.97), and ondansetron and CP (aOR=2.37, 1.18–4.76), while antacids were associated with a reduced risk for CL/P (aOR=0.58, 0.38–0.89). Conclusions Nausea and vomiting of pregnancy was not observed to be associated with an increased risk of birth defects, but possible risks related to three treatments (i.e. proton pump inhibitors, steroids and ondansetron), which could be chance findings, warrant further investigation. PMID:22102545

Self-concept of children and adolescents with cleft lip and/or palate.

PubMed

Leonard, B J; Brust, J D; Abrahams, G; Sielaff, B

1991-10-01

The self-concept of 105 children (8 to 11 years) and adolescents (12 to 18 years) with cleft lip and/or palate (CLP) was studied using the Piers-Harris Children's Self-Concept Scale and selected demographic and medical variables. Results indicated that most (98%) of children had average or above average self-concept scores. Further analysis, however, demonstrated an interaction between age and gender: adolescent girls experienced a more negative self-concept in comparison to younger girls and adolescent boys experienced a more positive self-concept in comparison to younger boys. In addition, popularity cluster scores for all children were below the mean for the normed population. Because children with CLP have additional difficulties (i.e., facial disfigurement, speech and language deficits, multiple surgeries), professionals should intercede to prevent or interrupt negative psychosocial outcomes, particularly for adolescent girls.

Comparison of patients’ age receiving therapeutic services in a cleft care team in Isfahan

PubMed Central

Soheilipour, Saeed; Soheilipour, Fatemeh; Derakhshandeh, Fatemeh; Hashemi, Hedieh; Memarzadeh, Mehrdad; Salehiniya, Hamid; Soheilipour, Fahimeh

2016-01-01

Background: Due to numerous difficulties in patients suffering from varieties of cleft lip and palate, their therapeutic management involves interdisciplinary teamwork. This study was conducted to compare the age of commencing treatments such as speech therapy, secondary palate and alveolar bone grafting and orthodontics between those who sought treatment early and late. Materials and Methods: In this retrospective study, 260 files of patients with cleft lip and palate based on their age at the time of admission to a cleft care team were divided into two groups: The early admission and late admission. Both groups compared based on four variables including the mean age of beginning speech therapy, palatal secondary surgery, alveolar bone grafting, and receiving orthodontics using t-test. Results: Based on the results, among 134 patients admitted for speech therapy, the mean age of initiating speech therapy in early clients was 3.3 years, and in the late ones was 9 years. Among 47 patients with secondary surgery, the mean age in early clients was 3.88 years, and in the late clients was 15.7 years. Among 17 patients with alveolar bone grafting, the mean age in the first group was 9 years, and in the other was 16.69 years. Among 24 patients receiving orthodontic services, the mean age in early clients was 7.66 years, and in the second group was 17.05 years. Conclusion: There was a significant difference between the age of performing secondary surgery and alveolar bone grafting and the age of beginning speech therapy and receiving orthodontic services in early references and late references to the team. PMID:27274350

Velopharyngeal incompetence diagnosed in a series of cardiac patients prompted by the finding of a 22q11.2 deletion

DOE Office of Scientific and Technical Information (OSTI.GOV)

Driscoll, D.A.; Emanuel, B.S.; Goldmuntz, E.

Congenital heart disease is very common and may occur as an isolated malformation or as part of a well-defined syndrome. In some syndromes, specific types are overrepresented as compared to their incidence in the general population. Conotruncal anomalies are one such example where they are seen as part of DiGeorge syndrome (DGS) and Velo-Cardio-Facial syndrome (VCFS). Often, the diagnosis of VCFS is not suspected because mild facial dysmorphia is frequently not appreciated in the newborn period. While overt cleft palate, a characteristic finding in VCFS, would be detected early, a submucousal cleft palate or velopharyngeal incompetence (VPI) may go unrecognizedmore » in the pre-verbal child and may remain undiagnosed in the older patient who is not referred for a palatal evaluation. In patients with either DGS or VCFS, microdeletions of chromosome 22q11.2 have been demonstrated in almost 90% of patients. As part of our ongoing study, twenty patients with a conotruncal cardiac anomaly, without an overt cleft palate, were referred for 22q11.2 deletion analysis. 13/20 patients were found to have a deletion. All 13 deleted patients underwent palatal evaluations by a plastic surgeon and speech pathologist. 7 patients were noted to have VPI. Intervention including speech therapy and/or posterior pharyngeal flap surgery for these previously undiagnosed abnormalities is underway. These results suggest that palatal abnormalities are underdiagnosed in a significant proportion of patients with conotruncal cardiac defects. We therefore propose deletion studies in these patients followed by prompt palatal evaluations when the deletion is present. Early diagnosis of VPI and submucousal cleft palate should lead to early intervention and appropriate management of the speech difficulties encountered by these individuals.« less

Maxillary reaction patterns identified by three-dimensional analysis of casts from infants with unilateral cleft lip and palate.

PubMed

Neuschulz, J; Schaefer, I; Scheer, M; Christ, H; Braumann, B

2013-07-01

In order to visualize and quantify the direction and extent of morphological upper-jaw changes in infants with unilateral cleft lip and palate (UCLP) during early orthodontic treatment, a three-dimensional method of cast analysis for routine application was developed. In the present investigation, this method was used to identify reaction patterns associated with specific cleft forms. The study included a cast series reflecting the upper-jaw situations of 46 infants with complete (n=27) or incomplete (n=19) UCLP during week 1 and months 3, 6, and 12 of life. Three-dimensional datasets were acquired and visualized with scanning software (DigiModel®; OrthoProof, The Netherlands). Following interactive identification of landmarks on the digitized surface relief, a defined set of representative linear parameters were three-dimensionally measured. At the same time, the three-dimensional surfaces of one patient series were superimposed based on a defined reference plane. Morphometric differences were statistically analyzed. Thanks to the user-friendly software, all landmarks could be identified quickly and reproducibly, thus, allowing for simultaneous three-dimensional measurement of all defined parameters. The measured values revealed that significant morphometric differences were present in all three planes of space between the two patient groups. Patients with complete UCLP underwent significantly larger reductions in cleft width (p<0.001), and sagittal growth in the complete UCLP group exceeded sagittal growth in the incomplete UCLP group by almost 50% within the first year of life. Based on patients with incomplete versus complete UCLP, different reaction patterns were identified that depended not on apparent severities of malformation but on cleft forms.

Bendectin and birth defects: I. A meta-analysis of the epidemiologic studies.

PubMed

McKeigue, P M; Lamm, S H; Linn, S; Kutcher, J S

1994-07-01

"Bendectin" (Doxylamine/Dicyclomine/Pyridoxine) was widely used for the treatment of nausea and vomiting of pregnancy until 1983, when production was discontinued in the face of lawsuits alleging that the drug caused congenital malformations. We have conducted a meta-analysis of the 16 cohort and 11 case-control studies that report birth defects from Bendectin-exposed pregnancies. This meta-analysis provides an estimate of the relative risk of malformation at birth in association with Bendectin exposure. The pooled estimate of the relative risk of any malformation at birth in association with exposure to Bendectin in the first trimester was 0.95 (95% Cl 0.88 to 1.04). Separate analyses were undertaken for cardiac defects, central nervous system defects, neural tube defects, limb reductions, oral clefts, and genital tract malformations. In these categories, the pooled estimates of relative risk ranged from 0.81 for oral clefts to 1.11 for limb reductions, with all 95% confidence intervals enclosing unity. With the exception of studies for oral clefts and for pyloric stenosis, tests for heterogeneity of association indicated for each table that all studies were estimating the same odds ratio. These studies, as a group, showed no difference in the risk of birth defects between those infants whose mothers had taken Bendectin during the first trimester of pregnancy and those infants whose mothers had not. It is unlikely that Bendectin exposure contributed to the prevalence of congenital malformations in the population.

Results of speech improvement following simultaneous push-back together with velopharyngeal flap surgery in cleft palate patients.

PubMed

Wermker, Kai; Lünenbürger, Henning; Joos, Ulrich; Kleinheinz, Johannes; Jung, Susanne

2014-07-01

Velopharyngeal insufficiency (VPI) can be caused by a variety of disorders. The most common cause of VPI is the association with cleft palate. The aim of this study was to evaluate the effectiveness of different surgical techniques for cleft palate patients with VPI: (1) velopharyngoplasty with an inferiorly based posterior pharyngeal flap (VPP posterior, Schönborn-Rosenthal), and (2) combination of VPP posterior and push-back operation (Dorrance). 41 subjects (26 females, 15 males) with VPI were analysed. Hypernasality was judged subjectively and nasalance data were assessed objectively using the NasalView system preoperative and 6 months postoperative. Subjective analysis showed improved speech results regarding hypernasality for all OP-techniques with good results for VPP posterior and VPP posterior combined with push-back with success rates of 94.4% and 87.7%, respectively. Objective analysis showed a statistically significant reduction of nasalance for both VPP posterior and VPP posterior combined with push-back (p < 0.01). However, there were no statistically significant differences concerning measured nasalance values postoperatively between the VPP posterior and VPP posterior combined with push-back. Based on our findings, both VPP posterior and VPP posterior combined with push-back showed good results in correction of hypernasality in cleft patients with velopharyngeal insufficiency. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

3-D shape analysis of palatal surface in patients with unilateral complete cleft lip and palate.

PubMed

Rusková, Hana; Bejdová, Sárka; Peterka, Miroslav; Krajíček, Václav; Velemínská, Jana

2014-07-01

Facial development of patients with unilateral complete cleft lip and palate (UCLP) is associated with many problems including deformity of the palate. The aim of this study was to evaluate palatal morphology and variability in patients with UCLP compared with Czech norms using methods of geometric morphometrics. The study was based on virtual dental cast analysis of 29 UCLP patients and 29 control individuals at the age of 15 years. The variability of palatal shape in UCLP patients was greater than that in nonclefted palates. Only 24% of clefted palates fell within the variability of controls. The palatal form of UCLP patients (range from 11.8 to 17.2 years) was not correlated with age. Compared with control palates, palates of UCLP patients were narrower, more anteriorly than posteriorly. Apart from the praemaxilla region, they were also shallower, and the difference increased posteriorly. The UCLP palate was characterised by the asymmetry of its vault. The maximum height of the palatal vault was anterior on the clefted side, whereas it was posterior on the nonclefted side. The slope of the UCLP palate was more inclined compared with the control group. The praemaxilla was therefore situated more inferiorly. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation

PubMed Central

Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

2016-01-01

Background Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. Patients and Methods This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. Results 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Conclusion Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D planning. PMID:27002726

Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation.

PubMed

Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

2016-01-01

Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D planning.

Preoperative evaluation of micro-organisms in non-operated cleft in soft palate: impact on use of antibiotics.

PubMed

Roode, G J; Bütow, K-W; Naidoo, S

2017-02-01

To identify the pathogenic micro-organisms that had colonised preoperatively in clefts in the soft palate and oro-nasopharynx, we retrospectively studied the preoperative microbiological profiles of 200 infants who had had primary repair of all types of cleft in the soft palate. Data from a private practice that specialises in the repair of facial clefts were extracted randomly from patients' files. We analysed the results of the culture of preoperative swabs taken from clefts in the soft palate and oro-nasopharynx, and the resistance profile of organisms towards various antibiotics. A total of 23 different pathogenic micro-organisms were isolated from 115 (57%) of the sample. Klebsiella pneumoniae most commonly colonised clefts in the lip, alveolus, and palate. This was considerably higher than in other groups. The second most common micro-organism was Staphylococcus aureus, which was found most often in patients with isolated clefts in the hard palate. Those with complete cleft lip and palate presented with more pathogenic micro-organisms in preoperative cultures than those with other types of cleft. We need to find a way to control pathogenic micro-organisms in the oral and oro-nasopharyngeal region preoperatively to limit postoperative complications. Copyright © 2016 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

[Maxillodental anomalies and consanguineous marriages].

PubMed

Garaev, Z I

1999-01-01

Families of 549 probands and families of 123 probands with cleft lip and/or palate were examined in order to evaluate the relationship between marriages between close relatives and the incidence and structure of maxillodental diseases. Clinical and genealogical analysis of families of probands with maxillodental abnormalities and cleft lip and/or palate showed a significantly higher incidence of marriages between close relatives and an inbreeding coefficient in these families. Analysis of the population and familial incidence of maxillodental abnormalities and the inbreeding coefficient will help the physicians consulting such families more accurately evaluate the risk and improve the efficacy of prevention of such conditions.

Cellular alterations and enhanced induction of cleft palate after coadministration of retinoic acid and TCDD

DOE Office of Scientific and Technical Information (OSTI.GOV)

Abbott, B.D.; Birnbaum, L.S.

1989-06-15

2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) and retinoic acid (RA) are both teratogenic in mice. TCDD is a highly toxic, stable environmental contaminant, while RA is a naturally occurring form of vitamin A. Exposure to TCDD induces hydronephrosis and cleft palate, and exposure to RA induces limb defects and cleft palate. Teratology studies previously have shown that the incidence of clefting is higher after exposure to RA + TCDD than would be observed for the same doses of either compound given alone. This study examines the cellular effects which result in cleft palate, after po administration on gestation Day (GD) 10 or 12 ofmore » RA + TCDD in corn oil (10 ml/kg total volume). Exposure on GD 10 to 6 micrograms TCDD + 40 mg RA/kg inhibited early growth of the shelves and clefting was due to a failure of shelves to meet and fuse. This effect on mesenchyme was observed in previous studies to occur after exposure on GD 10 to 40 mg/kg RA alone, but not after TCDD alone. After exposure on GD 12 to 6 micrograms TCDD + 80 mg RA/kg, clefting was due to a failure of shelves to fuse after making contact, because the medial cells differentiated into an oral-like epithelium. This response was observed in previous studies to occur after exposure to TCDD alone, but RA alone on GD 12 resulted in differentiation toward nasal-like cells. The interaction between TCDD and RA results in RA-like clefting after exposure on GD 10 and TCDD-like clefting after exposure on GD 12, and this clefting occurs at higher incidences than would occur after the same levels of either agent alone. After exposure on either GD 10 or 12 to RA + TCDD, the programmed cell death of the medial cells does not occur, and these cells continue to express EGF receptors and to bind 125I-EGF. The effects of RA and TCDD may involve modulation of the cells responses to embryonic growth and differentiation factors.« less

Outpatient versus Inpatient Primary Cleft Lip and Palate Surgery: Analysis of Early Complications.

PubMed

Kantar, Rami S; Cammarata, Michael J; Rifkin, William J; Plana, Natalie M; Diaz-Siso, J Rodrigo; Flores, Roberto L

2018-05-01

Fiscal constraints are driving shorter hospital lengths of stay. Outpatient primary cleft lip surgery has been shown to be safe, but outpatient primary cleft palate surgery remains controversial. This study evaluates outcomes following outpatient versus inpatient primary cleft lip and palate surgery. The American College of Surgeons National Surgical Quality Improvement Program Pediatric database was used to identify patients undergoing primary cleft lip and palate surgery between 2012 and 2015. Patient clinical factors and 30-day complications were compared for outpatient versus inpatient primary cleft lip and palate surgery. Univariate and multivariate analyses were performed. Three thousand one hundred forty-two patients were included in the primary cleft lip surgery group and 4191 in the primary cleft palate surgery group. Patients in the cleft lip surgery group with structural pulmonary abnormalities had a significantly longer hospital length of stay (β, 4.94; p = 0.001). Patients undergoing outpatient surgery had a significantly higher risk of superficial (OR, 1.99; p = 0.01) and deep wound dehiscence (OR, 2.22; p = 0.01), and were at a significantly lower risk of reoperation (OR, 0.36; p = 0.04) and readmission (OR, 0.52; p = 0.02). Outpatient primary cleft lip surgery is safe and has a complication profile similar to that of inpatient surgery. Outpatient primary cleft palate surgery is common practice in many U.S. hospitals and has a significantly higher rate of wound complications, and lower rates of reoperation and readmission. In properly selected patients, outpatient palatoplasty can be performed safely. Therapeutic, III.

Esthetic composition of smile in individuals with cleft lip, alveolus, and palate: visibility of the periodontium and the esthetics of smile.

PubMed

Esper, Luis Augusto; Sbrana, Michyele Cristhiane; Cunha, Mércia Jussara da Silva; Moreira, Guilherme Santos; de Almeida, Ana Lúcia Pompéia Fraga

2012-01-01

Objective. To evaluate characteristics of smile related to visibility in individuals with cleft lip, alveolus, and palate. Design. Cross-sectional. Setting. HRAC/USP, Brazil. Patients. Individuals with repaired complete unilateral cleft lip and palate (n = 45), aged 15-30 years. Interventions. Frontal facial photographs were obtained in natural and forced smiles (n = 135). Six specialists in periodontics evaluated the photographs as to the smile line, thickness, and curve of the upper lip. Main Outcome Measures. The cleft area was compared with the contralateral region. Results were expressed as percentages and means. The findings were compared between groups of periodontists. Results. Statistically significant relationship was observed in the smile line between examiners and between natural and forced smiles, regardless of the association with the cleft side. The lip was thicker at rest and thinner in the forced smile, as also evaluated by the group not experienced with cleft care. The curve of the upper lip in natural and forced smiles was considered as close to straight by both groups, regardless of the cleft. Conclusion. The smile in individuals with clefts was regarded as average for both cleft and noncleft sides. The thickness was characterized as average to thin, being thinner in forced smile and when analyzed by the group not experienced with cleft care. In the average, the curve of the upper lip was considered as straight. The present study elucidates some characteristics related to the smile in individuals with repaired unilateral cleft lip, alveolus, and palate.

Esthetic Composition of Smile in Individuals with Cleft Lip, Alveolus, and Palate: Visibility of the Periodontium and the Esthetics of Smile

PubMed Central

Esper, Luis Augusto; Sbrana, Michyele Cristhiane; Cunha, Mércia Jussara da Silva; Moreira, Guilherme Santos; de Almeida, Ana Lúcia Pompéia Fraga

2012-01-01

Objective. To evaluate characteristics of smile related to visibility in individuals with cleft lip, alveolus, and palate. Design. Cross-sectional. Setting. HRAC/USP, Brazil. Patients. Individuals with repaired complete unilateral cleft lip and palate (n = 45), aged 15–30 years. Interventions. Frontal facial photographs were obtained in natural and forced smiles (n = 135). Six specialists in periodontics evaluated the photographs as to the smile line, thickness, and curve of the upper lip. Main Outcome Measures. The cleft area was compared with the contralateral region. Results were expressed as percentages and means. The findings were compared between groups of periodontists. Results. Statistically significant relationship was observed in the smile line between examiners and between natural and forced smiles, regardless of the association with the cleft side. The lip was thicker at rest and thinner in the forced smile, as also evaluated by the group not experienced with cleft care. The curve of the upper lip in natural and forced smiles was considered as close to straight by both groups, regardless of the cleft. Conclusion. The smile in individuals with clefts was regarded as average for both cleft and noncleft sides. The thickness was characterized as average to thin, being thinner in forced smile and when analyzed by the group not experienced with cleft care. In the average, the curve of the upper lip was considered as straight. The present study elucidates some characteristics related to the smile in individuals with repaired unilateral cleft lip, alveolus, and palate. PMID:23227326

Assessing Technical Performance and Determining the Learning Curve in Cleft Palate Surgery Using a High-Fidelity Cleft Palate Simulator.

PubMed

Podolsky, Dale J; Fisher, David M; Wong Riff, Karen W; Szasz, Peter; Looi, Thomas; Drake, James M; Forrest, Christopher R

2018-06-01

This study assessed technical performance in cleft palate repair using a newly developed assessment tool and high-fidelity cleft palate simulator through a longitudinal simulation training exercise. Three residents performed five and one resident performed nine consecutive endoscopically recorded cleft palate repairs using a cleft palate simulator. Two fellows in pediatric plastic surgery and two expert cleft surgeons also performed recorded simulated repairs. The Cleft Palate Objective Structured Assessment of Technical Skill (CLOSATS) and end-product scales were developed to assess performance. Two blinded cleft surgeons assessed the recordings and the final repairs using the CLOSATS, end-product scale, and a previously developed global rating scale. The average procedure-specific (CLOSATS), global rating, and end-product scores increased logarithmically after each successive simulation session for the residents. Reliability of the CLOSATS (average item intraclass correlation coefficient (ICC), 0.85 ± 0.093) and global ratings (average item ICC, 0.91 ± 0.02) among the raters was high. Reliability of the end-product assessments was lower (average item ICC, 0.66 ± 0.15). Standard setting linear regression using an overall cutoff score of 7 of 10 corresponded to a pass score for the CLOSATS and the global score of 44 (maximum, 60) and 23 (maximum, 30), respectively. Using logarithmic best-fit curves, 6.3 simulation sessions are required to reach the minimum standard. A high-fidelity cleft palate simulator has been developed that improves technical performance in cleft palate repair. The simulator and technical assessment scores can be used to determine performance before operating on patients.

Team approach concept in management of oro-facial clefts: a survey of Nigerian practitioners

PubMed Central

Akinmoladun, Victor I; Obimakinde, Obitade S

2009-01-01

Background Cleft palate craniofacial teams have evolved across the globe in the last 20 years in compliance with the interdisciplinary concept of management of oro-facial clefts. An interdisciplinary care allows a coordinated treatment protocol for the patient. The objective of this study was to evaluate oro-facial cleft care in Nigeria with particular emphasis on the compliance of the practitioners to the team approach concept. Methods A snapshot survey was conducted among specialists that attended the Pan African Congress on Cleft Lip and Palate, at the International Institute of Tropical Agriculture, Nigeria in February 2007. Result Sixty three respondents successfully completed and returned the questionnaire for analysis. Mean age of respondents was 43.5 years and the range was 38–62 years. Male to female ratio was 2.7:1. Oral and Maxillofacial Surgeons and Plastic Surgeons constituted the majority of respondents (38.1% and 22.2%) respectively. Only 47.6% (n = 30) of the specialists belonged to cleft teams. Majority of Oral and Maxillofacial Surgeons and Plastic Surgeons belonged to cleft teams (70% and 63.3% respectively) while speech pathologists and orthodontists were less represented (20% and 36.7% respectively) in teams. Conclusion Findings from this study suggests that interdisciplinary care for the cleft patient does not appear to have been fully embraced in Nigeria. This may be a result of several reasons ranging from non availability of the requisite specialists, the relatively young age of cleft care practice in this part of the world to the poor state of infrastructure. PMID:19426559

Current surgical practices in cleft care: cleft palate repair techniques and postoperative care.

PubMed

Katzel, Evan B; Basile, Patrick; Koltz, Peter F; Marcus, Jeffrey R; Girotto, John A

2009-09-01

The purpose of this study was to objectively report practices commonly used in cleft palate repair in the United States. This study investigates current surgical techniques, postoperative care, and complication rates for cleft palate repair surgery. All 803 surgeon members of the American Cleft Palate-Craniofacial Association were sent online and/or paper surveys inquiring about their management of cleft palate patients. Three-hundred six surveys were received, a 38 percent response rate. This represented responses of surgeons from 100 percent of American Cleft Palate-Craniofacial Association registered cleft teams. Ninety-six percent of respondents perform a one-stage repair. Eighty-five percent of surgeons perform palate surgery when the patient is between 6 and 12 months of age. The most common one-stage repair techniques are the Bardach style (two flaps) with intravelar veloplasty and the Furlow palatoplasty. After surgery, 39 percent of surgeons discharge patients within 24 hours. Another 43 percent discharge patients within 48 hours. During postoperative management, 92 percent of respondents implement feeding restrictions. Eighty-five percent of physicians use arm restraints. Surgeons' self-reported complications rates are minimal: 54 percent report a fistula in less than 5 percent of cases. The reported need for secondary speech surgery varies widely. The majority of respondents repair clefts in one stage. The most frequently used repair techniques are the Furlow palatoplasty and the Bardach style with intravelar veloplasty. After surgery, the majority of surgeons discharge patients in 1 or 2 days, and nearly all surgeons implement feeding restrictions and the use of arm restraints. The varying feeding protocols are reviewed in this article.

Premaxillary characteristics in complete bilateral cleft lip and palate: A predictor for treatment outcome

PubMed Central

El-Kassaby, Marwa Abdelwahab; Abdelrahman, Noha Ibrahim; Abbass, Islam Tarek

2013-01-01

Objectives: The aim of the current study was to investigate how bilateral cleft lip and palate (BCLP) cases responded differently to presurgical orthopedics (PSO) and primary lip repair (LR) based on premaxillary characteristics. We suggest a clinically oriented descriptive classification for BCLP based on premaxillary characteristics. Design and Setting: A retrospective longitudinal comparative study where available records of all non-syndromic patients with complete BCLP attending the Cleft Clinic, affiliated to the Oral and Maxillofacial Surgery department, Ain-Shams University, Cairo, Egypt were assessed. Sample Population and Methodology: Twenty-two cases were collected over a 4-years period from 2008 to 2011 (15 boys and 7 girls). Model assessment was performed for serial models representing four stages of treatment; M1: Prior to start of PSO, M2: At the end of PSO, M3: One month after LR, M4: Three months after LR. The premaxillary and vomerine widths were measured on M1. Models (M1-M4) were assessed for changes in anteroposterior projection, anterior arch width, intercanine width and posterior arch width and results were statistically analyzed. Intra-and postoperative surgical findings during and after primary LR were recorded. The sample was divided into two groups based on the premaxillary size and characteristics; Group R: Rudimentary premaxilla and Group P: Prominent premaxilla. Results: There was a highly significant difference in premaxillary width between the two groups (P = 0.00), changes in anteroposterior projection of the premaxilla were significant one and three months after LR. Changes in maxillary anterior arch width, intercanine and posterior arch widths were non-significant between groups. Mean age difference between the two groups was only statistically significant at the stage of LR. Surgical differences were noted between the two groups. Postoperatively as compared to group R; group P showed more premaxillary bulge and show at rest, as well as more prolabial stretching. In addition, facial profile was more convex in group P. Conclusion: The two types of BCLP outlined in this study are different from several aspects, and hence management should be modified according to each case. This descriptive classification provides a useful tool for evaluation and planning of patients with BCLP. PMID:23662253

Psychological status as a function of residual scarring and facial asymmetry after surgical repair of cleft lip and palate.

PubMed

Millar, Keith; Bell, Aileen; Bowman, Adrian; Brown, Denise; Lo, Tsz-Wai; Siebert, Paul; Simmons, David; Ayoub, Ashraf

2013-03-01

Objective : Objective measure of scarring and three-dimensional (3D) facial asymmetry after surgical correction of unilateral cleft lip (UCL) and unilateral cleft lip (UCLP). It was hypothesized that the degree of scarring or asymmetry would be correlated with poorer psychological function. Design : In a cross-sectional design, children underwent 3D imaging of the face and completed standardized assessments of self-esteem, depression, and state and trait anxiety. Parents rated children's adjustment with a standard scale. Setting : Glasgow Dental School, School of Medicine, College of Medical, Veterinary and Life Sciences. Patients : Fifty-one children aged 10 years with UCLP and 43 with UCL were recruited from the cohort treated with the surgical protocol of the CLEFTSIS managed clinical network in Scotland. Methods : Objective assessment to determine the luminance and redness of the scar and facial asymmetry. Depression, anxiety, and a self-esteem assessment battery were used for the psychological analysis. Results : Cleft cases showed superior psychological adjustment when compared with normative data. Prevalence of depression matched the population norm. The visibility of the scar (luminance ratio) was significantly correlated with lower self-esteem and higher trait anxiety in UCLP children (P  =  .004). Similar but nonsignificant trends were seen in the UCL group. Parental ratings of poorer adjustment also correlated with greater luminance of the scar. Conclusions : The objectively defined degree of postoperative cleft scarring was associated with subclinical symptoms of anxiety, depression, and low self-esteem.

Treatment of velopharyngeal inadequacy in a patient with submucous cleft palate and myasthenia gravis.

PubMed

Rikihisa, Naoaki; Udagawa, Akikazu; Yoshimoto, Shinya; Ichinose, Masaharu; Kimura, Tomoe; Shimizu, Sara

2009-09-01

To describe the clinical course and management of a patient with submucous cleft palate who developed myasthenia gravis (MG) as an adult and suffered recurrent hypernasality. Few reports have described MG patients undergoing pharyngeal flap surgery for velopharyngeal incompetence, and these have described only slight speech improvement in such patients. Case report. The patient underwent primary pushback palatoplasty and superiorly based pharyngeal flap surgery for submucous cleft and short palate at age 7. Hypernasality showed major improvement after initial surgery. At age 19, the patient developed MG that triggered the recurrence of velopharyngeal incompetence. After MG was treated, revision pushback palatoplasty was performed for velopharyngeal incompetence when the patient was 24 years old. Preoperatively and postoperatively, the patient was evaluated by the same speech-language-hearing therapists, each with at least 5 years of clinical experience in cleft palate speech. After the second pushback palatoplasty, hypernasality and audible nasal air emission during speech decreased to mild. Primary pushback palatoplasty and pharyngeal flap surgery were performed for the submucous cleft palate. Revision pushback palatoplasty improved velopharyngeal inadequacy induced by MG. Decreased perceived nasality positively influenced the patient's quality of life. Combined pushback palatoplasty and pharyngeal flap surgery is thus an option in surgical treatment for velopharyngeal inadequacy to close the cleft and the velopharyngeal orifice in cases of cleft palate and MG.

Online Sentence Reading in People With Aphasia: Evidence From Eye Tracking

PubMed Central

Knilans, Jessica

2015-01-01

Purpose There is a lot of evidence that people with aphasia have more difficulty understanding structurally complex sentences (e.g., object clefts) than simpler sentences (subject clefts). However, subject clefts also occur more frequently in English than object clefts. Thus, it is possible that both structural complexity and frequency affect how people with aphasia understand these structures. Method Nine people with aphasia and 8 age-matched controls participated in the study. The stimuli consisted of 24 object cleft and 24 subject cleft sentences. The task was eye tracking during reading, which permits a more fine-grained analysis of reading performance than measures such as self-paced reading. Results As expected, controls had longer reading times for critical regions in object cleft sentences compared with subject cleft sentences. People with aphasia showed the predicted effects of structural frequency. Effects of structural complexity in people with aphasia did not emerge on their first pass through the sentence but were observed when they were rereading critical regions of complex sentences. Conclusions People with aphasia are sensitive to both structural complexity and structural frequency when reading. However, people with aphasia may use different reading strategies than controls when confronted with relatively infrequent and complex sentence structures. PMID:26383779

Online Sentence Reading in People With Aphasia: Evidence From Eye Tracking.

PubMed

Knilans, Jessica; DeDe, Gayle

2015-11-01

There is a lot of evidence that people with aphasia have more difficulty understanding structurally complex sentences (e.g., object clefts) than simpler sentences (subject clefts). However, subject clefts also occur more frequently in English than object clefts. Thus, it is possible that both structural complexity and frequency affect how people with aphasia understand these structures. Nine people with aphasia and 8 age-matched controls participated in the study. The stimuli consisted of 24 object cleft and 24 subject cleft sentences. The task was eye tracking during reading, which permits a more fine-grained analysis of reading performance than measures such as self-paced reading. As expected, controls had longer reading times for critical regions in object cleft sentences compared with subject cleft sentences. People with aphasia showed the predicted effects of structural frequency. Effects of structural complexity in people with aphasia did not emerge on their first pass through the sentence but were observed when they were rereading critical regions of complex sentences. People with aphasia are sensitive to both structural complexity and structural frequency when reading. However, people with aphasia may use different reading strategies than controls when confronted with relatively infrequent and complex sentence structures.

Reconstruction of Drug-induced Cleft Palate Using Bone Marrow Mesenchymal Stem Cell in Rodents.

PubMed

Amalraj, Julie Christy; Gangothri, Manasa; Babu, Hari

2017-01-01

Triamcinolone acetonide (TAC) (Kenacort*) is a commonly used synthetic glucocorticoid in today's medical practice. The drug is also a potential agent in inducing cleft palates in rats. This drug has been used to induce cleft palate in the fetus of the pregnant rats to bring out a suitable animal model for human cleft lip and palate. The drug was given intraperitoneally to induce congenital cleft palate in pregnant mother rats. The aim of this study is to induce congenital cleft palate in pregnant Wister albino rats and reconstruct the defect with bone marrow mesenchymal stem cells (BMSCs) isolated from the same species along with PLGA (poly lactic co glycolic acid) scaffold. Twenty female animals were divided into two groups. Each group contains 10 animals. The animals were allowed to mate with male rat during the esterase period and the day, in hich vaginal plug was noticed was taken to be day 0. The pregnant rats were given triamcinolone acetonide (Kenacort* 10 mg/1 ml intramuscularly/intravenous [IM/IV] injections) injection intraperitoneally at two different dosages as the existing literature. The injection was given on the 10, 12, and 14 th day of gestation. The clinical changes observed were recorded, and the change in the body weight was noted carefully. Group 1 which received 0.5 mg/kg body weight of TAC had many drug toxic effects. Group 2 which received 0.05 mg/kg body weight produced cleft palate in rat pups. The pups were divided into three groups. Group A control group without cell transplant, the cleft was allowed to close by itself. Group B containing palate reconstructed with plain PLGA scaffold (Bioscaffold, Singapore) without BMSC, Group C containing BMSC and PLGA scaffold (Bioscaffold, Singapore), Group C operated for the cleft palate reconstruction using BMSCs and PLGA scaffold. There was faster and efficient reconstruction of bone in the cleft defect in Group C while there was no defect closure in Group A and B. There was complete reconstruction of the cleft palate in the group of rat pups which received BMSCs along with PLGA scaffold. Bone growth in the cleft defect was faster; complete fusion of the defect was achieved. The dosage of drug used for inducing cleft palate was standardized in rodents for a definitive congenital cleft palate model. The cleft palate induced was reconstructed using BMSCs and PLGA scaffold. This was compared with a control group and the other group with plain PLGA used for reconstruction of the palate. This study will invite future research in the effect of the drug on human beings, especially on pregnant mothers.

Contemporary management of cleft lip and palate in the United Kingdom. Have we reached the turning point?

PubMed

Colbert, S D; Green, Ben; Brennan, P A; Mercer, N

2015-09-01

Babies born with clefts of the lip, and the alveolus or palate, or both, require multidisciplinary, highly specialised treatment from birth to early adulthood. We review the contemporary management of clefts and outline the current treatment protocol adopted by cleft networks in the United Kingdom. We also look at the level of evidence and the restructuring of services that has defined current practice. In light of the recent Cleft Care UK study, we ask whether it is now time to adopt a new philosophy towards the surgical techniques that are used. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas

PubMed Central

Ríos, Luis; Rosas, Antonio; Estalrrich, Almudena; García-Tabernero, Antonio; Bastir, Markus; Huguet, Rosa; Pastor, Francisco; Sanchís-Gimeno, Juan Alberto; de la Rasilla, Marco

2015-01-01

We present here the first cases in Neandertals of congenital clefts of the arch of the atlas. Two atlases from El Sidrón, northern Spain, present respectively a defect of the posterior (frequency in extant modern human populations ranging from 0.73% to 3.84%), and anterior (frequency in extant modern human populations ranging from 0.087% to 0.1%) arch, a condition in most cases not associated with any clinical manifestation. The fact that two out of three observable atlases present a low frequency congenital condition, together with previously reported evidence of retained deciduous mandibular canine in two out of ten dentitions from El Sidrón, supports the previous observation based on genetic evidence that these Neandertals constituted a group with close genetic relations. Some have proposed for humans and other species that the presence of skeletal congenital conditions, although without clinical significance, could be used as a signal of endogamy or inbreeding. In the present case this interpretation would fit the general scenario of high incidence of rare conditions among Pleistocene humans and the specific scenariothat emerges from Neandertal paleogenetics, which points to long-term small and decreasing population size with reduced and isolated groups. Adverse environmental factors affecting early pregnancies would constitute an alternative, non-exclusive, explanation for a high incidence of congenital conditions. Further support or rejection of these interpretations will come from new genetic and skeletal evidence from Neandertal remains. PMID:26418427

Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas.

PubMed

Ríos, Luis; Rosas, Antonio; Estalrrich, Almudena; García-Tabernero, Antonio; Bastir, Markus; Huguet, Rosa; Pastor, Francisco; Sanchís-Gimeno, Juan Alberto; de la Rasilla, Marco

2015-01-01

We present here the first cases in Neandertals of congenital clefts of the arch of the atlas. Two atlases from El Sidrón, northern Spain, present respectively a defect of the posterior (frequency in extant modern human populations ranging from 0.73% to 3.84%), and anterior (frequency in extant modern human populations ranging from 0.087% to 0.1%) arch, a condition in most cases not associated with any clinical manifestation. The fact that two out of three observable atlases present a low frequency congenital condition, together with previously reported evidence of retained deciduous mandibular canine in two out of ten dentitions from El Sidrón, supports the previous observation based on genetic evidence that these Neandertals constituted a group with close genetic relations. Some have proposed for humans and other species that the presence of skeletal congenital conditions, although without clinical significance, could be used as a signal of endogamy or inbreeding. In the present case this interpretation would fit the general scenario of high incidence of rare conditions among Pleistocene humans and the specific scenariothat emerges from Neandertal paleogenetics, which points to long-term small and decreasing population size with reduced and isolated groups. Adverse environmental factors affecting early pregnancies would constitute an alternative, non-exclusive, explanation for a high incidence of congenital conditions. Further support or rejection of these interpretations will come from new genetic and skeletal evidence from Neandertal remains.

SATB2-associated syndrome presenting with Rett-like phenotypes.

PubMed

Lee, J S; Yoo, Y; Lim, B C; Kim, K J; Choi, M; Chae, J-H

2016-06-01

The SATB2-associated syndrome (SAS) was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole-exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p.Glu396Gln). Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in SATB2 was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of SAS. SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Distraction osteogenesis and orthognathic surgery for a patient with unilateral cleft lip and palate.

PubMed

Kim, Ji Hyun; Lee, Il Hong; Lee, Sang Min; Yang, Byoung Eun; Park, In Young

2015-03-01

Maxillary deficiency is a common feature in patients with repaired cleft lip and palate. Orthognathic surgery has been the conventional approach for the management of cleft-related maxillary hypoplasia. However, for patients with a severe maxillary deficiency, orthognathic surgery alone has many disadvantages, such as high relapse rates of 25% to 40%, instability, limited amount of advancement, and a highly invasive surgical technique. As an alternative treatment method, distraction osteogenesis has been used successfully in the distraction of the mandible, the maxilla, the entire midface, and the orbits as well as the cranial bones, with stable outcomes. The type of distraction device, either external or internal, can be chosen based on the surgical goals set for the patient. In this study, we report on the use of a rigid external distraction device for maxillary advancement in a 22-year-old woman with a repaired unilateral cleft lip and palate and severe maxillary hypoplasia. After the distraction osteogenesis, 2-jaw surgery was performed to correct the maxillary yaw deviation and the mandibular prognathism. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

Three-dimensional morphologic nasal surface characteristics that predict the extremes of esthetics in patients with repaired cleft lip and palate.

PubMed

Russell, Kathy A; Milne, Andrew D; Varma, Devesh; Josephson, Keith; Lee, J Michael

2011-01-01

The purposes of this study were (1) to develop imaging methods and objective numeric parameters to describe nose morphology, and (2) to correlate those parameters with nasal esthetics for patients with clefts. A total of 28 patients with repaired complete unilateral cleft lip and palate (CUCLP) and 20 age- and gender-matched individuals without clefts were identified. A panel of orthodontists rated and ranked nasal esthetics from nose casts for the cleft group. Best and worst esthetic cleft groups were established from the cast assessments. Three-dimensional surface coordinates of the casts were digitally mapped with an electromagnetic tracking device. Digitized nasal images were oriented, voxelated, sliced, and mathematically curve-fitted. Maximum difference, percent area difference, and maximum and minimum derivative differences between cleft and noncleft and between right and left nose sides were calculated. Differences in parameters between groups were assessed with the use of analysis of variance (ANOVA) and t tests, and correlations with esthetics were assessed with the Spearman rank correlation test. Differences were seen between cleft and noncleft and best and worst esthetic groups for all four parameters (p < .05). The best esthetic cleft group had (1) lower percent area difference (p < .0001), (2) lower maximum difference (p < .001), and (3) smaller differences in slope of the nose in the coronal plane (p < .0001) than the worst esthetic cleft group. Maximum difference and maximum derivative difference and, to a lesser degree, percent area difference can be used to identify differences between cleft and noncleft nasal morphology and to assess levels of nasal esthetics for patients with CUCLP.

Paternal Risk Factors for Oral Clefts in Northern Africans, Southeast Asians, and Central Americans

PubMed Central

Ly, Stephanie; Burg, Madeleine L.; Ihenacho, Ugonna; Brindopke, Frederick; Auslander, Allyn; Magee, Kathleen S.; Sanchez-Lara, Pedro A.; Nguyen, Thi-Hai-Duc; Nguyen, Viet; Tangco, Maria Irene; Hernandez, Angela Rose; Giron, Melissa; Mahmoudi, Fouzia J.; DeClerck, Yves A.; Magee, William P.; Figueiredo, Jane C.

2017-01-01

While several studies have investigated maternal exposures as risk factors for oral clefts, few have examined paternal factors. We conducted an international multi-centered case–control study to better understand paternal risk exposures for oral clefts (cases = 392 and controls = 234). Participants were recruited from local hospitals and oral cleft repair surgical missions in Vietnam, the Philippines, Honduras, and Morocco. Questionnaires were administered to fathers and mothers separately to elicit risk factor and family history data. Associations between paternal exposures and risk of clefts were assessed using logistic regression adjusting for potential confounders. A father’s personal/family history of clefts was associated with significantly increased risk (adjusted OR: 4.77; 95% CI: 2.41–9.45). No other significant associations were identified for other suspected risk factors, including education (none/primary school v. university adjusted OR: 1.29; 95% CI: 0.74–2.24), advanced paternal age (5-year adjusted OR: 0.98; 95% CI: 0.84–1.16), or pre-pregnancy tobacco use (adjusted OR: 0.96; 95% CI: 0.67–1.37). Although sample size was limited, significantly decreased risks were observed for fathers with selected occupations. Further research is needed to investigate paternal environmental exposures as cleft risk factors. PMID:28629204

Palate dimensions in six-year-old children with unilateral cleft lip and palate: a six-center study on dental casts.

PubMed

Koželj, Vesna; Vegnuti, Miljana; Drevenšek, Martina; Hortis-Dzierzbicka, Maria; Gonzalez-Landa, Gonzalo; Hanstein, Siiri; Klimova, Irena; Kobus, Kazimierz; Kobus-Zaleśna, Katarzyna; Semb, Gunvor; Shaw, Bill

2012-11-01

To compare palatal dimensions in 6-year-old children with unilateral cleft lip and palate (UCLP) treated by different protocols with those of noncleft children. Retrospective intercenter outcome study. Patients : Upper dental casts from 129 children with repaired UCLP and 30 controls were analyzed by the trigonometric method. Six European cleft centers. Main outcome measures : Sagittal, transverse, and vertical dimensions of the palate were observed. Palate variables were analyzed with descriptive methods and nonparametric tests. Regarding several various characteristics measured on a relatively small number of subjects, hierarchical, k-means clustering, and principal component analyses were used. Mean values of the observed dimensions for five cleft groups differed significantly from the control (p < .05). The group with one-stage closure of the cleft differed significantly from all other cleft groups in most variables (p < .05). Principal component analysis of all 159 cases identified three clusters with specific morphologic characteristics of the palate. A similar number of treated children were classified into each cluster, while all children without clefts were classified in the same cluster. The percentage of treated children from a particular group that fit this cluster ranged from 0% to 70% and increased with age at palatal closure and number of primary surgical procedures. At 6 years of age, children with stepwise repair and hard palate closure after the age of two more frequently result in palatal dimensions of noncleft control than children with earlier palatal closure and one-stage cleft repair.

Isolated cleft palate requires different surgical protocols depending on cleft type.

PubMed

Elander, Anna; Persson, Christina; Lilja, Jan; Mark, Hans

2017-08-01

A staged protocol for isolated cleft palate (CPO), comprising the early repair of the soft palate at 6 months and delayed repair of the eventual cleft in the hard palate until 4 years, designed to improve maxillary growth, was introduced. CPO is frequently associated with additional congenital conditions. The study evaluates this surgical protocol for clefts in the soft palate (CPS) and for clefts in the hard and soft palate (CPH), with or without additional malformation, regarding primary and secondary surgical interventions needed for cleft closure and for correction of velopharyngeal insufficiency until 10 years of age. Of 94 consecutive children with CPO, divided into four groups with (+) or without (-) additional malformations (CPS + or CPS - and CPH + or CPH-), hard palate repair was required in 53%, performed with small local flaps in 21% and with bilateral mucoperiosteal flaps in 32%. The total incidence of soft palate re-repair was 2% and the fistula repair of the hard palate was 5%. The total incidence of secondary velopharyngeal surgery was 17% until 10 years, varying from 0% for CPS - and 15% for CPH-, to 28% for CPS + and 30% for CPH+. The described staged protocol for repair of CPO is found to be safe in terms of perioperative surgical results, with comparatively low need for secondary interventions. Furthermore, the study indicates that the presence of a cleft in the hard palate and/or additional conditions have a negative impact on the development of the velopharyngeal function.

Parent satisfaction with primary repair of paediatric cleft lip in Southwest China.

PubMed

Ha, P; Li, C; Shi, B

2017-03-01

The purpose of this study was to investigate the key factors in relation to parent satisfaction with the primary repair of paediatric cleft lip. One hundred and ninety-five children born with cleft lip and/or palate aged between 3 months and 1 year were recruited, along with their caregivers. All patients underwent primary cleft lip repair, and a telephone interview was held with their main caregivers at 3 months postoperative. The level of satisfaction with each item included in a simplified Cleft Evaluation Profile was ascertained and recorded. Patient clinical data were obtained from the medical records. One hundred and thirty-eight (71%) parents reported satisfaction with the general outcome of surgery. Parents were satisfied with the appearance of the lip and profile of the face, but were dissatisfied with the appearance of the nose and teeth. Mothers of patients showed lower satisfaction levels than fathers and grandparents. Parental satisfaction with the appearance of the lip was lower for patients without a cleft palate than for those with a cleft palate. The results of this study suggest that most Chinese parents of children who undergo primary cleft lip repair express satisfaction with the surgical outcomes. Satisfaction with the appearance of the nose and teeth is low and this needs to be improved. Other factors are likely to influence expressions of satisfaction. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

The comorbidities and risk factors in children with congenital airway anomalies: A nationwide population-based study in Taiwan.

PubMed

Lee, Yu-Sheng; Tsao, Pei-Chen; Jeng, Mei-Jy; Soong, Wen-Jue

2018-05-01

The comorbidities and risk factors associated with congenital airway anomalies (CAAs) in children are undecided. This study aimed to investigate the comorbidities commonly associated with CAA and to explore the prognosis and risk factors in CAA children.This nationwide, population-based cohort study was conducted between 2000 and 2011 with children aged 0 to 5 years assigned to either a CAA group (6341 patients) that diagnosed with CAA or an age- and gender-matched control group (25,159 patients) without CAA, using the Taiwan National Health Insurance Research Database (NHIRD). Descriptive, logistic regression, Kaplan-Meier, and Cox regression analyses were used for the investigation.Cleft lip/palate (adjusted odds ratio [aOR], 7.88; 95% confidence interval [CI], 6.49-9.59), chromosome (aOR, 6.85; 95% CI, 5.03-9.34), and congenital neurologic (aOR, 5.52; 95% CI, 4.45-6.87) anomalies were the comorbidities most highly associated with CAA. Of the 31,500 eligible study patients, 636 (399 in the CAA group and 237 in the control group) died during the follow-up period (6.3% vs 0.9%, P < .001). The mortality risk after adjusting for age, gender, and comorbidities elevated significantly among CAA patients (adjusted hazard ratio [aHR], 4.59; 95% CI, 3.85-5.48). The need for tracheostomy (aHR, 2.98; 95% CI, 2.15-4.15), comorbidity with congenital heart disease (CHD) (aHR, 2.52; 95% CI, 2.05-3.10), and chromosome anomaly (aHR, 2.34; 95% CI, 1.70-3.23) were the independent risk factors most greatly related to CAA mortality.This study demonstrated that CAA was most highly associated with the comorbidities as cleft lip/palate, chromosome, and congenital neurologic anomalies. The CAA children had a significantly elevated mortality risk; the need for tracheostomy, CHD, and chromosome anomaly were the most related risk factors of mortality for CAA. Further studies are warranted to clarify the involved mechanisms.

Development and validation of the quality-of-life adolescent cleft questionnaire in patients with cleft lip and palate.

PubMed

Piombino, Pasquale; Ruggiero, Federica; Dell'Aversana Orabona, Giovanni; Scopelliti, Domenico; Bianchi, Alberto; De Simone, Federica; Carnevale, Nina; Brancati, Federica; Iengo, Maurizio; Grassia, Maria Gabriella; Cataldo, Rosanna; Califano, Luigi

2014-09-01

Only a few reports in the literature have described the use of specific instruments for assessing the quality of life in adolescents and young adults with cleft lip and palate (CLP). This condition markedly affects their lifestyle, even after surgical treatment. In the present study, we aimed to develop a quality-of-life assessment tool specifically designed for such patients with CLP. Our multidisciplinary team created a questionnaire focused on the physical, psychological, and social satisfaction of adolescents and young adults with CLP, which was adapted from 3 dimensions of the 36-item Short-Form Health Survey. The questionnaire was administered to a randomized sample of 40 adolescents and young adults (aged 16-24 years) with CLP who had completed treatment protocols and 40 (aged 16-24 years) who were not affected by CLP. The statistical results stated that the questionnaire had good reliability and validity; the Cronbach α coefficient was found to be 0.944. Moreover, factorial analysis confirmed the presence of 3 subscales that were the fundamental components of this questionnaire, which is consistent with the areas theoretically proposed and from which the items were designed and selected. Thus, we validated our novel questionnaire that was administered in the present study and proved its consistency. However, further investigations on a larger population would be useful to confirm these findings.

Acquisition of Linguistic and Cognitive Skills by Children with Cleft Palate.

ERIC Educational Resources Information Center

Broen, Patricia A.; Devers, Monica C.; Doyle, Shirley S.; Prouty, Jo McCauley; Moller, Karlind T.

1998-01-01

This study compared cognitive and linguistic development of young children with (N=28) and without (N=29) cleft palate. Children with cleft palate, although well within the normal range, performed significantly below the control group on cognitive and linguistic tests. Cognitive differences were linguistic in nature and were related to hearing…

Early Speech Production of Children with Cleft Palate.

ERIC Educational Resources Information Center

Estrem, Theresa; Broen, Patricia A.

1989-01-01

The study comparing word-initial target phonemes and phoneme production of five toddlers with cleft palate and five normal toddlers found that the cleft palate children tended to target more words with word-initial nasals, approximants, and vowels and fewer words with word-initial stops, fricatives, and affricates than normal children. (Author/DB)

Constitutively active mutation of ACVR1 in oral epithelium causes submucous cleft palate in mice.

PubMed

Noda, Kazuo; Mishina, Yuji; Komatsu, Yoshihiro

2016-07-15

Cleft palate is among the most common human birth defects. Submucous cleft palate (SMCP) is a subgroup of cleft palate, which may be as common as overt cleft palate. Despite the high frequency of SMCP in humans, only recently have several animal models of SMCP begun to provide insight into the mechanisms by which SMCP develops. In this study, we show that enhanced BMP signaling through constitutively active ACVR1 in palatal epithelium causes submucous cleft palate in mice. In these mutant mice, the fusion of both palatal mesenchyme in hard palate, and muscles in soft palate were hampered by epithelial tissue. During palatal fusion, enhanced SMAD-dependent BMP signaling impaired cell death and altered cell proliferation rate in medial edge epithelium (MEE), and resulted in MEE persistence. At the molecular level, downregulation of ΔNp63, which is crucial for normal palatal fusion, in MEE cells was impaired, leading to a reduction in caspase-3 activation. Our study provides a new insight into the etiology of SMCP caused by augmented BMP signaling. Copyright © 2015 Elsevier Inc. All rights reserved.

Three-Dimensional Soft Tissue Nasal Changes After Nasoalveolar Molding and Primary Cheilorhinoplasty in Infants With Unilateral Cleft Lip and Palate.

PubMed

Mancini, Laura; Gibson, Travis L; Grayson, Barry H; Flores, Roberto L; Staffenberg, David; Shetye, Pradip R

2018-01-01

To quantify 3-dimensional (3D) nasal changes in infants with unilateral cleft lip with or without cleft palate (UCL±P) treated by nasoalveolar molding (NAM) and cheilorhinoplasty and compare to noncleft controls. Retrospective case series of infants treated with NAM and primary cheilorhinoplasty between September, 2012 and July, 2016. Infants were included if they had digital stereophotogrammetric records at initial presentation (T1), completion of NAM (T2), and following primary cheilorhinoplasty (T3). Images were oriented in 3dMD Vultus software, and 16 nasolabial points identified. Twenty consecutively treated infants with UCL±P. Nasoalveolar molding and primary cheilorhinoplasty. Anthropometric measures of nasal symmetry and morphology were compared in the treatment group between time points using paired Student t tests. Postsurgical nasal morphology was compared to noncleft controls. Nasal tip protrusion increased, and at T3 was 2.64 mm greater than noncleft controls. Nasal base width decreased on the cleft side by 4.01 mm after NAM and by 6.73 mm after cheilorhinoplasty. Columellar length of the noncleft to cleft side decreased from 2:1 to 1:1 following NAM. Significant improvements in subnasale, columella, and nasal tip deviations from midsagittal plane were observed. Treatment improved symmetry of the alar morphology angle and the nasal base-columella angle between cleft and noncleft sides. Three-dimensional analysis of UCL±P patients demonstrated significant improvements in nasal projection, columella length, nasal symmetry, and nasal width. Compared to noncleft controls, nasal form was generally corrected, with overcorrection of nasal tip projection, columella angle, and outer nasal widths.

Incisor and molar overjet, arch contraction, and molar relationship in the mixed dentition in repaired complete unilateral cleft lip and palate: A qualitative and quantitative appraisal.

PubMed

Disthaporn, Suteeta; Suri, Sunjay; Ross, Bruce; Tompson, Bryan; Baena, Diogenes; Fisher, David; Lou, Wendy

2017-07-01

To compare the mixed dentition incisor and molar overjet, severity of contraction of the dental arch, and the sagittal molar relationship on the cleft side vs the noncleft side in children with repaired complete unilateral cleft of the lip and palate (UCLP). Orthodontic records taken prior to orthodontic preparation for alveolar bone grafting were screened to select study casts from patients with nonsyndromic repaired complete UCLP who did not have mandibular skeletal or dental asymmetry. The study sample comprised dental casts from 74 children aged 8.9 ± 1 years. Standardized digital photographs were acquired at 1:1 magnification. A coordinate system was developed using digital image-processing software (Photoshop CS4 and Adobe Illustrator). Incisor and molar overjet, Angle's classification, and arch contraction were recorded. Descriptive statistics, paired t-tests, and kappa statistics were used to compare the cleft and noncleft sides. A negative overjet of -1 to -5 mm was often present at the incisors, with greater frequency and magnitude on the cleft side. Class II molar relation was more frequent on the cleft side (61.1%) than on the noncleft side (47.2%). Significantly greater contraction of the cleft side deciduous canine and deciduous first molar was noted, while the difference was very minor at the first permanent molar. Cleft side maxillary arch contraction was most severe in the deciduous canine and first deciduous molar region and progressively less severe in the posterior region of the arch. A greater frequency and severity of negative overjet and Class II molar relationship was seen on the cleft side.

Cleft Lip and Palate

MedlinePlus

Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

Evaluation of speech errors in Putonghua speakers with cleft palate: a critical review of methodology issues.

PubMed

Jiang, Chenghui; Whitehill, Tara L

2014-04-01

Speech errors associated with cleft palate are well established for English and several other Indo-European languages. Few articles describing the speech of Putonghua (standard Mandarin Chinese) speakers with cleft palate have been published in English language journals. Although methodological guidelines have been published for the perceptual speech evaluation of individuals with cleft palate, there has been no critical review of methodological issues in studies of Putonghua speakers with cleft palate. A literature search was conducted to identify relevant studies published over the past 30 years in Chinese language journals. Only studies incorporating perceptual analysis of speech were included. Thirty-seven articles which met inclusion criteria were analyzed and coded on a number of methodological variables. Reliability was established by having all variables recoded for all studies. This critical review identified many methodological issues. These design flaws make it difficult to draw reliable conclusions about characteristic speech errors in this group of speakers. Specific recommendations are made to improve the reliability and validity of future studies, as well to facilitate cross-center comparisons.

Weight, Length, and Body Mass Index Growth of Children Under 2 Years of Age With Cleft Lip and Palate.

PubMed

Miranda, Gabriela Serrano; Marques, Ilza Lazarini; de Barros, Suely Prietto; Arena, Eliane Petean; de Souza, Luiz

2016-05-01

To study the growth of length-for-age (L/A), weight-for-age (W/A), and body mass index (BMI) of children with cleft lip and palate receiving a normal diet; to establish specific growth curves for children with cleft palate with or without cleft lip (CLP/ICP) who had not undergone palatoplasty and for children with isolated cleft lip (ICL); and to assess if CLP/ICP growth differed from ICL growth and if CLP/ICP and ICL growth differed from growth for typical children. Prospective and cross-sectional study. Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, São Paulo, Brazil. Weight and length of 381 children with cleft lip and palate and who were younger than 2 years were recorded and used to calculate W/A, L/A, and BMI growth curves. The 2006 World Health Organization growth charts were used as a reference for typical children. All children received a normal diet for age. Children with CLP/ICP had median W/A and BMI growth curves below growth curves for typical children but showed spontaneous recovery starting at approximately 5 months of age, even with nonoperated cleft palate. Children with ICL had growth similar to that of typical children. Children with CLP/ICP, who initially had W/A and BMI values less than those of the ICL group, had W/A and BMI equal to or higher than the ICL group after 9 months of age. Children with CLP/ICP had impaired W/A and BMI growth with spontaneous recovery starting early in childhood. This study established specific W/A, BMI, and L/A growth curves for children with cleft lip and palate.

Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices

PubMed Central

Mikulewicz, Marcin; Kachniarz, Krzysztof; Chojnacka, Katarzyna

2015-01-01

The Objective The aim of the study was evaluation of metal ions (nickel and chromium) released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair). Materials and Methods The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental–patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years); control group–patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years) and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals). Samples (saliva, hair) were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si) in hair and in saliva. Results The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker. Conclusion It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions. PMID:26544176

Evaluation and integration of disparate classification systems for clefts of the lip

PubMed Central

Wang, Kathie H.; Heike, Carrie L.; Clarkson, Melissa D.; Mejino, Jose L. V.; Brinkley, James F.; Tse, Raymond W.; Birgfeld, Craig B.; Fitzsimons, David A.; Cox, Timothy C.

2014-01-01

Orofacial clefting is a common birth defect with wide phenotypic variability. Many systems have been developed to classify cleft patterns to facilitate diagnosis, management, surgical treatment, and research. In this review, we examine the rationale for different existing classification schemes and determine their inter-relationships, as well as strengths and deficiencies for subclassification of clefts of the lip. The various systems differ in how they describe and define attributes of cleft lip (CL) phenotypes. Application and analysis of the CL classifications reveal discrepancies that may result in errors when comparing studies that use different systems. These inconsistencies in terminology, variable levels of subclassification, and ambiguity in some descriptions may confound analyses and impede further research aimed at understanding the genetics and etiology of clefts, development of effective treatment options for patients, as well as cross-institutional comparisons of outcome measures. Identification and reconciliation of discrepancies among existing systems is the first step toward creating a common standard to allow for a more explicit interpretation that will ultimately lead to a better understanding of the causes and manifestations of phenotypic variations in clefting. PMID:24860508

Cleft lip and palate subjects prevalence of abnormal stylohyoid complex and tonsilloliths on cone beam computed tomography.

PubMed

Cazas-Duran, Eymi Valery; Fischer Rubira-Bullen, Izabel Regina; Pagin, Otávio; Stuchi Centurion-Pagin, Bruna

Tonsilloliths and abnormal stylohyoid complex may have similar symptoms to others of different aetiology. Individuals with cleft lip and palate describe similar symptoms because of the anatomical implications that are peculiar to this anomaly. The aim of this study was to determine the prevalence of abnormal stylohyoid complex and tonsilloliths on cone beam computed tomography in individuals with cleft lip and palate. According to the inclusion and exclusion criteria, 66 CT scans out of of 2,794 were analysed, on i- Cat ® vision software with 0.8 index Kappa intra-examiner. The total prevalence of ossification of the incomplete stylohyoid complex in individuals with cleft lip and palate was 66.6%; the prevalence of these findings in females was 75% and 61.9% in males. The total prevalence of tonsilloliths was 7.5%. It is important to ascertain calcification of the stylohyoid complex and tonsilloliths in the radiological report, due to the anatomical proximity and similarsymptomatology to other orofacial impairments inindividuals with cleft lip and palate, focusing on females with oral cleft formation, patients with incisive trans foramen cleft and incisive post foramen cleft because they are more prevalent. Greater knowledge of the anatomical morphometry of individuals with cleft lip and palate greatly contributes towards the selection of clinical behaviours and the quality of life of these patients, since cleft lip and palateis one of the most common anomalies. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

Facial profile esthetics in operated children with bilateral cleft lip and palate

PubMed Central

Lauris, Rita de Cássia Moura Carvalho; Capelozza, Leopoldino; Calil, Louise Resti; Lauris, José Roberto Pereira; Janson, Guilherme; Garib, Daniela Gamba

2017-01-01

ABSTRACT Objective: The aim of this study was to evaluate the facial profile esthetics of rehabilitated children with complete bilateral cleft lip and palate (BCLP), comparing the judgment of professionals related and not related to cleft rehabilitation and laypersons. Methods: Thirty children in the mixed dentition (24 male; 6 female) with a mean age of 7.8 years were evaluated using facial profile photographs by 25 examiners: 5 orthodontists and 5 plastic surgeons with experience in cleft care, 5 orthodontists and 5 plastic surgeons without experience in oral cleft rehabilitation and 5 graduated laymen. Their facial profiles were classified into esthetically unpleasant (grade 1 to 3), esthetically acceptable (grade 4 to 6), and esthetically pleasant (grade 7 to 9). Intraexaminer and interexaminer errors were evaluated using Spearman correlation coefficient and Kendall’s test, respectively. Inter-rater differences were analyzed using Friedman test and Student-Newman-Keuls test for multiple comparisons. Results: Orthodontists dealing with oral clefts rehabilitation considered the majority of the sample as esthetically pleasant. Plastic surgeons of the cleft team and laypersons classified most of the sample as esthetically acceptable. Most of the orthodontists and plastic surgeons not related to cleft care evaluated the facial profile as esthetically unpleasant. The structures associated to unpleasant profiles were the nose, the midface and the upper lip. Conclusions: The facial profile of children with BCLP was classified as esthetically acceptable by laypersons. Professionals related to cleft rehabilitation were more lenient and those not related to cleft care were stricter to facial esthetics than laypersons. PMID:28902248

Critical analysis of consecutive unilateral cleft lip repairs: determining ideal sample size.

PubMed

Power, Stephanie M; Matic, Damir B

2013-03-01

Objective : Cleft surgeons often show 10 consecutive lip repairs to reduce presentation bias, however the validity remains unknown. The purpose of this study is to determine the number of consecutive cases that represent average outcomes. Secondary objectives are to determine if outcomes correlate with cleft severity and to calculate interrater reliability. Design : Consecutive preoperative and 2-year postoperative photographs of the unilateral cleft lip-nose complex were randomized and evaluated by cleft surgeons. Parametric analysis was performed according to chronologic, consecutive order. The mean standard deviation over all raters enabled calculation of expected 95% confidence intervals around a mean tested for various sample sizes. Setting : Meeting of the American Cleft Palate-Craniofacial Association in 2009. Patients, Participants : Ten senior cleft surgeons evaluated 39 consecutive lip repairs. Main Outcome Measures : Preoperative severity and postoperative outcomes were evaluated using descriptive and quantitative scales. Results : Intraclass correlation coefficients for cleft severity and postoperative evaluations were 0.65 and 0.21, respectively. Outcomes did not correlate with cleft severity (P  =  .28). Calculations for 10 consecutive cases demonstrated wide 95% confidence intervals, spanning two points on both postoperative grading scales. Ninety-five percent confidence intervals narrowed within one qualitative grade (±0.30) and one point (±0.50) on the 10-point scale for 27 consecutive cases. Conclusions : Larger numbers of consecutive cases (n > 27) are increasingly representative of average results, but less practical in presentation format. Ten consecutive cases lack statistical support. Cleft surgeons showed low interrater reliability for postoperative assessments, which may reflect personal bias when evaluating another surgeon's results.

The Role of Smile Train and the Partner Hospital Model in Surgical Safety, Collaboration, and Quality in the Developing World.

PubMed

Purnell, Chad A; McGrath, Jennifer L; Gosain, Arun K

2015-06-01

The partner hospital model identifies hospitals in the developing world to educate and enable local surgeons to deliver effective cleft care. This study aimed to determine the outcomes of this model on safety, education, and quality of surgical care. Twelve partner hospitals, sponsored by Smile Train for 5 or more years and distributed over 4 continents, were selected. Activities at each institution were evaluated using cleft surgical data, and surveys were completed by hospital leadership. A mean of 82% of cleft patients at partner hospitals underwent sponsored surgeries. After partnership, all 12 hospitals implemented preoperative checklists for cleft surgery, and 5 implemented checklists for other surgeries. All hospitals had personnel who received safety training as a result of partnership. There was no change in 30-day reoperations or readmissions. Follow-up rate increased by 18% (P = 0.03). Facilities recruited 1.8 additional cleft surgeons (P < 0.01) and increased the number of cleft surgical trainees by a mean of 13.3 annually (P = 0.012); 2.5 ± 1.7 additional ancillary services were added, resulting in 75% of partner hospitals having a basic multidisciplinary cleft team (surgery, speech, and dental) compared with 25% prior to partnership (P < 0.01). Total cleft surgeries, alveolar bone grafts, and percentage of secondary surgeries increased significantly as length of partnership progressed (P < 0.01). Smile Train's partner hospital model increases both the volume and quality of cleft care delivered at these institutions. Safety initiatives for cleft care demonstrate effects extending to global surgical care delivered at partner hospitals.

Oral health-related quality of life in Dutch children with cleft lip and/or palate.

PubMed

Bos, Annemieke; Prahl, Charlotte

2011-09-01

To investigate the oral health-related quality of life (OH-RQoL) of Dutch cleft lip and palate patients. It was hypothesized that (1) there is no difference between cleft patients' and their parents' reports of patients' OH-RQoL; (2) there are no gender differences; (3) there are no differences in OH-RQoL between cleft patients with regard to their symptoms; and (4) there is no difference between patients above and below 12 years of age. The sample consisted of 122 patients with clefts (age range, 8-15 years) and their parents. Respondents were recruited from the cleft palate team of Amsterdam. They completed the Child Oral Health-Related Quality of Life questionnaire (COHIP). Items were divided into five different subscales, and scores on all subscales were compared between and within groups. Patients' and parents' perceptions differed significantly on three of the five subscales. Girls and boys did not differ significantly with regard to their perception of reported OH-RQoL. The cleft lip and cleft lip and alveolus [CL(A)] subgroup scored significantly higher on the functional well-being subscale. The cleft patients aged 12 years and older scored significantly lower on the emotional well-being and oral symptoms subscales when compared with their younger peers. Only the second hypothesis was not rejected in this study. This means that parents are not interchangeable with regard to reporting on their children's perceptions related to OH-RQoL, that OH-RQoL changes with age, and that it is important that subgroups are respected when investigating OH-RQoL in cleft patients.

A novel non-coding RNA within an intron of CDH2 and association of its SNP with non-syndromic cleft lip and palate.

PubMed

Kumari, Priyanka; Singh, Subodh Kumar; Raman, Rajiva

2018-06-05

Genome-wide linkage analysis and whole genome sequencing in a Van der Woude syndrome (VWS) family revealed that the SNP, rs539075, within intron 2 of the cadherin 2 gene (CDH2) co-segregated with the disease phenotype. A study with nonsyndromic cleft lip with or without cleft palate (NSCL ± P) cases (N = 292) and controls (N = 287) established association of this SNP with NSCL ± P as a risk factor. RT-PCR based expression analysis of the SNP-harbouring region of intron 2 of CDH2 in the clefted lip and/or palate tissues of 16 patients revealed that the mutant allele expressed in all those individuals having it (hetero-/homozygous), whereas the wild type allele expressed in <50% of the samples in which it was present. The intronic transcript was also present in the prospective lip and palate region of 13.5 dpc mouse embryo, detected by RNA in situ hybridization and RT-PCR. These results including the in silico, characterization of the ~200 nt-intronic transcript showed that conformationally it fits best with noncoding small RNA, possibly a precursor of miRNA. Its function in the orofacial organogenesis remains to be elucidated which will enable us to define the role of this mutant ncRNA in the clefting of lip and palate. Copyright © 2018 Elsevier B.V. All rights reserved.

Neonatal care of infants with cleft lip and/or palate: feeding orientation and evolution of weight gain in a nonspecialized Brazilian hospital.

PubMed

Amstalden-Mendes, Lívia Gobby; Magna, Luis Alberto; Gil-da-Silva-Lopes, Vera Lúcia

2007-05-01

To survey the feeding orientation received during the postnatal period by the parents of cleft babies, as well as the location where they receive the orientation; to identify resources used in feeding; and to assess the correlation of the child's weight with the surgical procedure schedule. During consultation for diagnosis and genetic counseling in a general tertiary hospital, 26 parents of cleft babies born in different hospitals were interviewed based on a semistructured protocol and spontaneous reports. Cleft palate was present in 42.31% (11/26), cleft lip/palate in 50% (13/26), and cleft lip in 7.69% (2/26) of the cases. Feeding orientation was given in maternities to 72% (18/25) and in specific rehabilitation centers to 24% (6/ 25) of the parents. Breast-feeding was encouraged in every case. Nevertheless, other feeding resources were necessary, especially bottles. Surgical procedure delays caused by poor weight gain occurred in 66.7% (12/18). Neonatal feeding orientation was not systematically given in every case. Because it is an important way to achieve an effective weight gain, educational programs for nonspecialized health professionals, as well as regular pediatric follow-up and specialized multi-professional teams, could improve nutritional intake and could move the schedule for surgical procedures forward. The results also suggest that specific neonatal health care for cleft babies should be part of health policy.

Clinical effectiveness of late maxillary protraction in cleft lip and palate: a methods paper

PubMed Central

Lee, MK; Lane, C; Azeredo, F; Landsberger, M; Kapadia, H; Sheller, B; Yen, SL

2017-01-01

Objectives A prospective parallel cohort trial was conducted to compare outcomes of patients treated with maxillary protraction vs. LeFort 1 maxillary advancement surgery. Setting and Sample Population The primary site for the clinical trial is Children’s Hospital Los Angeles; the satellite test site is Seattle Children’s Hospital. All patients have isolated cleft lip and palate and a skeletal Class III malocclusion. Material & Methods A total of 50 patients, ages 11–14 will be recruited for the maxillary protraction cohort. The maxillary surgery cohort consists of 50 patients, ages 16–21, who will undergo LeFort 1 maxillary advancement surgery. Patients with additional medical or cognitive handicaps were excluded from the study. Results Current recruitment of patients is on track to complete the study within the proposed recruitment period. Conclusion This observational trial is collecting information that will examine dental, skeletal, financial, and quality of life issues from both research cohorts. PMID:28643931

Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities 1

PubMed Central

Trindade-Suedam, Ivy Kiemle; von Kostrisch, Lília Maria; Pimenta, Luiz André Freire; Negrato, Carlos Antônio; Franzolin, Solange Braga; Trindade, Alceu Sergio

2016-01-01

Abstract Objective: to assessed the prevalence of diabetes mellitus (DM) and drug abuse in mothers of children with orofacial clefts (OFC). Methods: 325 women who had children (0-3y) with clefts were interviewed. Data regarding type of diabetes, use of legal/illegal drugs during pregnancy, waist girth and fasting blood sugar at the first prenatal consult were collected. Results: twenty seven percent of the women had DM, out of these, 89% had gestational DM, 5,5% type 1 DM and 5,5% type 2 DM. The prevalence of DM in mothers of children with OFC was 27%, it is significantly higher than the average Brazilian population which is 7.6% (p<0.01) (OR=4.5, 95%CI=3.5-5.8). Regarding drug abuse during pregnancy, 32% of the mothers used drugs and a significant positive correlation was observed between drug abuse and the occurrence of clefts and other craniofacial anomalies (p=0.028) (OR=2.87; 95%CI=1.1-7.4). Conclusions: DM and drug abuse during pregnancy increases the risk for OFC and related anomalies and early diagnosis of DM and prevention of drug abuse, especially in pregnant women, should be emphasized. PMID:27508899

Perception of Place of Articulation by Children with Cleft Palate and Posterior Placement.

ERIC Educational Resources Information Center

Whitehill, Tara L.; Francis, Alexander L.; Ching, Christine K-Y.

2003-01-01

A study examined if 10 children (ages 4-12) with repaired cleft palate who demonstrate posterior placement of alveolar targets differed from 10 children with cleft palate without such error patterns, and from 10 controls in the perception of alveolar targets. Children with posterior placement appeared unable to distinguish alveolar targets.…

Vocal Development of 9-Month-Old Babies with Cleft Palate.

ERIC Educational Resources Information Center

Chapman, Kathy L.; Hardin-Jones, Mary; Schulte, Julie; Halter, Kelli Ann

2001-01-01

This study compared the prelinguistic vocal development of 30 9- month-old babies with unrepaired cleft palate and age-matched peers (N=15). Fewer of the babies with cleft palate had reached the canonical babbling stage (57 percent versus 93 percent) and had smaller consonant inventories. However, syllable types and length and number of…

The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goats Palates

USDA-ARS?s Scientific Manuscript database

A cleft palate goat model was used to study the contractile properties of the levator veli palatini (LVP) muscle which is responsible for the movement of the soft palate. In 15-25% of patients that undergo palatoplasty, residual velopharyngeal insufficiency (VPI) remains a problem and often require...

[Influence of mediator diffusion on trigger mode of a synapse].

PubMed

Vasilev, A N; Kulish, M V

2014-01-01

The model of postsynaptic membrane activation, is proposed in the paper. This model takes into account inhomogeneity of mediator's space distribution in the region of the synaptic cleft as well as nonlinear nature of interaction between the mediator and receptors on the postsynaptic membrane. Based on equations of this model stationary solutions are calculated for mediator distribution in the synaptic cleft and the number of activated receptors. Kinetics of reactions for activation and deactivation of receptors is analyzed within the concept of a trigger mode of the synapse. It is shown that activation-deactivation processes and redistribution of the mediator in the cleft can be interpreted as successive transitions between two stationary states of the system. Time of transitions between these states is found and its dependence on system parameters (in particular on the width of the synaptic cleft) is analyzed.

Simultaneous branchial cleft and thyroid disorders may present a management challenge.

PubMed

Harding, Jane L; Veivers, David; Sidhu, Stan B; Sywak, Mark S; Shun, Albert; Delbridge, Leigh W

2005-09-01

Cysts, sinuses or abscesses arising from second, third or fourth branchial cleft remnants may lie either within the body of, or in close proximity to the thyroid gland. Given their infrequent nature they may pose both diagnostic and management challenges for the treating surgeon when they occur in association with thyroid disorders. This is a case series. All patients with concomitant thyroid disorders and a branchial cleft anomaly treated in the University of Sydney Endocrine Surgical Unit in the 10-year period 1994-2003 comprised the study group. Patient demographics, clinical presentation, imaging, surgical management, definitive histology and outcomes were documented. Six patients were identified with an age range of 3-76 years and a male : female ratio of 1:5. Five branchial cleft anomalies were left sided, one was right sided. Two patients had second cleft anomalies, both of which were initially thought to represent metastatic lymph nodes in association with thyroid cancer. A further two patients had third cleft abnormalities presenting as suppurative thyroiditis. The final two patients had fourth cleft abnormalities causing intraoperative management problems. Branchial cleft remnants and anomalies are rare but may occur in association with thyroid disease. They may pose a diagnostic and management dilemma either preoperatively, when mistaken for metastatic thyroid cancer, or intraoperatively when mistaken for a thyroid nodule.

A Developmental Perspective on Assessment of Infants with Clefts and Related Disorders.

ERIC Educational Resources Information Center

Savage, Hallie E.; And Others

1994-01-01

This article presents a rationale for comprehensive developmental assessment for infants with cleft palates/lips and related disorders. The assessment model is based on risk factors influencing early development and on clinical research on developmental outcomes. Implications on the clinical assessment process and early intervention are discussed.…

Cleft palate - resources

MedlinePlus

Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.org/complications/cleft-lip-and- ...

Facial clefts and facial dysplasia: revisiting the classification.

PubMed

Mazzola, Riccardo F; Mazzola, Isabella C

2014-01-01

Most craniofacial malformations are identified by their appearance. The majority of the classification systems are mainly clinical or anatomical, not related to the different levels of development of the malformation, and underlying pathology is usually not taken into consideration. In 1976, Tessier first emphasized the relationship between soft tissues and the underlying bone stating that "a fissure of the soft tissue corresponds, as a general rule, with a cleft of the bony structure". He introduced a cleft numbering system around the orbit from 0 to 14 depending on its relationship to the zero line (ie, the vertical midline cleft of the face). The classification, easy to understand, became widely accepted because the recording of the malformations was simple and communication between observers facilitated. It represented a great breakthrough in identifying craniofacial malformations, named clefts by him. In the present paper, the embryological-based classification of craniofacial malformations, proposed in 1983 and in 1990 by us, has been revisited. Its aim was to clarify some unanswered questions regarding apparently atypical or bizarre anomalies and to establish as much as possible the moment when this event occurred. In our opinion, this classification system may well integrate the one proposed by Tessier and tries at the same time to find a correlation between clinical observation and morphogenesis.Terminology is important. The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, between the lateronasal and maxillary process (or oro-naso-ocular cleft); between the medionasal and maxillary process (or cleft of the lip); between the maxillary processes (or cleft of the palate); and between the maxillary and mandibular process (or macrostomia).For the other types of defects, derived from alteration of bone production centers, the word dysplasia should be used instead. Facial dysplasias have been ranged in a helix form and named after the site of the developmental arrest. Thus, an internasal, nasal, nasomaxillary, maxillary and malar dysplasia, depending on the involved area, have been identified.The classification may provide a useful guide in better understanding the morphogenesis of rare craniofacial malformations.

Effectiveness of presurgical nasoalveolar molding therapy on unilateral cleft lip nasal deformity

PubMed Central

Kinouchi, Nao; Horiuchi, Shinya; Yasue, Akihiro; Kuroda, Yuko; Kawai, Nobuhiko; Watanabe, Keiichiro; Izawa, Takashi; Hashimoto, Ichiro; Hassan, Ali H.; Tanaka, Eiji

2018-01-01

Objectives: To evaluate the effectiveness of pre-surgical nasoalveolar molding (PNAM) in patients with unilateral cleft lip nasal deformities. Methods: This was a retrospective study involving 29 patients with unilateral cleft lip and palate defects, of whom 13 were treated with palatal devices with nasal stents (PNAM group) and 16 were treated with palatal devices without nasal stents or surgical tapes (control group). Submental oblique photographs and orthodontic models were longitudinally obtained at the initial visit (T1) and immediately before (T2) and after cheiloplasty (T3). Asymmetry of the external nose, degree of columellar shifting, nasal tip/ala nose ratio, nasal base angle, interalveolar gap, and the sagittal difference in the alveolar gap were measured. The study was conducted in the Orthodontic Clinic at Tokushima University Hospital, Tokushima, Japan between 1997 and 2012. Results: At T1, there were no significant intergroup differences in the first 4 asymmetry parameters. At T2, the PNAM group showed a significant improvement in all values compared to the control group. At T3, the PNAM group showed significant improvement in nasal asymmetry and columellar shifting. Model analysis showed significantly greater changes in the inter-alveolar gap and the sagittal difference of the alveolar cleft gap from T1 to T2 in the PNAM group. Conclusion: The use of PNAM is indispensable for pre-surgical orthodontic treatment at the early postnatal age. PMID:29436566

Effectiveness of presurgical nasoalveolar molding therapy on unilateral cleft lip nasal deformity.

PubMed

Kinouchi, Nao; Horiuchi, Shinya; Yasue, Akihiro; Kuroda, Yuko; Kawai, Nobuhiko; Watanabe, Keiichiro; Izawa, Takashi; Hashimoto, Ichiro; Hassan, Ali H; Tanaka, Eiji

2018-02-01

To evaluate the effectiveness of pre-surgical nasoalveolar molding (PNAM) in patients with unilateral cleft lip nasal deformities. Methods: This was a retrospective study involving 29 patients with unilateral cleft lip and palate defects, of whom 13 were treated with palatal devices with nasal stents (PNAM group) and 16 were treated with palatal devices without nasal stents or surgical tapes (control group). Submental oblique photographs and orthodontic models were longitudinally obtained at the initial visit (T1) and immediately before (T2) and  after cheiloplasty (T3). Asymmetry of the external nose, degree of columellar shifting, nasal tip/ala nose ratio, nasal base angle, interalveolar gap, and the sagittal difference in the alveolar gap were measured. The study was conducted in the Orthodontic Clinic at Tokushima University Hospital, Tokushima, Japan between 1997 and 2012. Results: At T1, there were no significant intergroup differences in the first 4 asymmetry parameters. At T2, the PNAM group showed a significant improvement in all values compared to the control group. At T3, the PNAM group showed significant improvement in nasal asymmetry and columellar shifting. Model analysis showed significantly greater changes in the inter-alveolar gap and the sagittal difference of the alveolar cleft gap from T1 to T2 in the PNAM group. Conclusion: The use of PNAM is indispensable for pre-surgical orthodontic treatment at the early postnatal age.

Maxillary distraction osteogenesis in cleft lip and palate cases with midface hypoplasia using rigid external distractor: an alternative technique.

PubMed

Dua, Gaurav; Navin Kumar, Andrews; Roy, Indranil Deb; Roy, Supriyo Kumar

2014-05-01

Patients with operated cleft lip and palate present with a problem of midface hypoplasia, and such patients have been traditionally treated with orthognathic surgery. Such a procedure has its own limitations of relapse and hence a newer modality of distraction osteogenesis with histiogenesis can be chosen to overcome such limitations for midfacial advancement. The purpose of this study is to evaluate an alternative technique and its postoperative stability in maxillary distraction osteogenesis in patients of cleft lip and cleft palate using a rigid external device (RED). Nine patients with midface bone stock deficiency were selected for maxillary advancement. At the first surgery under general anesthesia, after Le Fort I osteotomy, RED system was used with the alternative technique. After distraction, evaluation was done for ease of the procedure, stability, and complications. Lateral cephalograms were evaluated at 3 stages: T1, pre-distraction; T2, post-distraction; and T3, 1 year post-distraction. A mean 13.4-mm midface advancement was shown with bone formation at the pterygomaxillary region without losing the vector and having a standby mode in case the wire broke during distraction The results were stable even at 1 year of follow-up. Maxillary position improved in relation to the cranial base. This study showed that the RED was versatile in midface advancement.

Cleft Palate; A Multidiscipline Approach.

ERIC Educational Resources Information Center

Stark, Richard B., Ed.

Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate.

PubMed

Lewis, Charlotte W; Jacob, Lisa S; Lehmann, Christoph U

2017-05-01

Orofacial clefts, specifically cleft lip and/or cleft palate (CL/P), are among the most common congenital anomalies. CL/P vary in their location and severity and comprise 3 overarching groups: cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate alone (CP). CL/P may be associated with one of many syndromes that could further complicate a child's needs. Care of patients with CL/P spans prenatal diagnosis into adulthood. The appropriate timing and order of specific cleft-related care are important factors for optimizing outcomes; however, care should be individualized to meet the specific needs of each patient and family. Children with CL/P should receive their specialty cleft-related care from a multidisciplinary cleft or craniofacial team with sufficient patient and surgical volume to promote successful outcomes. The primary care pediatrician at the child's medical home has an essential role in making a timely diagnosis and referral; providing ongoing health care maintenance, anticipatory guidance, and acute care; and functioning as an advocate for the patient and a liaison between the family and the craniofacial/cleft team. This document provides background on CL/P and multidisciplinary team care, information about typical timing and order of cleft-related care, and recommendations for cleft/craniofacial teams and primary care pediatricians in the care of children with CL/P. Copyright © 2017 by the American Academy of Pediatrics.

Delayed detection of cleft palate: an audit of newborn examination.

PubMed

Habel, A; Elhadi, N; Sommerlad, B; Powell, J

2006-03-01

To identify prevalence of delayed detection of cleft palate, and associated factors that could lead to improved identification at neonatal clinical examination. Audit of hospital notes, parental questionnaire incorporating open ended questions, and telephone questionnaire of junior doctors in the referring hospitals incorporating fixed choice questions. Of 344 cleft palate patients without cleft lip or submucous cleft palate, the day the cleft was detected was recorded in 92%. Delayed detection, after the first day, was 28% overall, distributed as 37% with isolated cleft palate and 23% with syndromic cleft palate. Narrow V shaped clefts were more likely to be delayed in detection compared with broad U shaped clefts, as were soft palate clefts compared with hard palate clefts. Five with isolated cleft palates were not detected until after the first year. Babies born at home were unlikely to be detected on day 1. Symptoms were significantly increased in the delayed detection group for feeding problems and nasal regurgitation. A telephone questionnaire of trainee paediatricians in referring units revealed that digital examination was more commonly practised than visual inspection, and few recalled receiving specific instruction on examination of the palate. Delayed detection of cleft palate was not uncommon, and the features of those more likely to be missed suggested digital examination was related. Trainee doctors and midwives should be instructed to inspect visually using a light and tongue depressor, then digitally if submucous cleft palate is suspected.

Cleft Lip and Cleft Palate

MedlinePlus

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Perceptions of team members working in cleft services in the United kingdom: a pilot study.

PubMed

Scott, Julia K; Leary, Sam D; Ness, Andy R; Sandy, Jonathan R; Persson, Martin; Kilpatrick, Nicky; Waylen, Andrea E

2015-01-01

Cleft care provision in the United Kingdom has been centralized over the past 15 years to improve outcomes for children born with cleft lip and palate. However, to date, there have been no investigations to examine how well these multidisciplinary teams are performing. In this pilot study, a cross-sectional questionnaire surveyed members of all health care specialties working to provide cleft care in 11 services across the United Kingdom. Team members were asked to complete the Team Work Assessment (TWA) to investigate perceptions of team working in cleft services. The TWA comprises 55 items measuring seven constructs: team foundation, function, performance and skills, team climate and atmosphere, team leadership, and team identity; individual constructs were also aggregated to provide an overall TWA score. Items were measured using five-point Likert-type scales and were converted into percentage agreement for analysis. Responses were received from members of every cleft team. Ninety-nine of 138 cleft team questionnaires (71.7%) were returned and analyzed. The median (interquartile range) percentage of maximum possible score across teams was 75.5% (70.8, 88.2) for the sum of all items. Team performance and team identity were viewed most positively, with 82.0% (75.0, 88.2) and 88.4% (82.2, 91.4), respectively. Team foundation and leadership were viewed least positively with 79.0% (72.6, 84.6) and 76.6% (70.6, 85.4), respectively. Cleft team members perceive that their teams work well, but there are variations in response according to construct.

Australian children with cleft palate achieve age-appropriate speech by 5 years of age.

PubMed

Chacon, Antonia; Parkin, Melissa; Broome, Kate; Purcell, Alison

2017-12-01

Children with cleft palate demonstrate atypical speech sound development, which can influence their intelligibility, literacy and learning. There is limited documentation regarding how speech sound errors change over time in cleft palate speech and the effect that these errors have upon mono-versus polysyllabic word production. The objective of this study was to examine the phonetic and phonological speech skills of children with cleft palate at ages 3 and 5. A cross-sectional observational design was used. Eligible participants were aged 3 or 5 years with a repaired cleft palate. The Diagnostic Evaluation of Articulation and Phonology (DEAP) Articulation subtest and a non-standardised list of mono- and polysyllabic words were administered once for each child. The Profile of Phonology (PROPH) was used to analyse each child's speech. N = 51 children with cleft palate participated in the study. Three-year-old children with cleft palate produced significantly more speech errors than their typically-developing peers, but no difference was apparent at 5 years. The 5-year-olds demonstrated greater phonetic and phonological accuracy than the 3-year-old children. Polysyllabic words were more affected by errors than monosyllables in the 3-year-old group only. Children with cleft palate are prone to phonetic and phonological speech errors in their preschool years. Most of these speech errors approximate typically-developing children by 5 years. At 3 years, word shape has an influence upon phonological speech accuracy. Speech pathology intervention is indicated to support the intelligibility of these children from their earliest stages of development. Copyright © 2017 Elsevier B.V. All rights reserved.

3D-Printed Models of Cleft Lip and Palate for Surgical Training and Patient Education.

PubMed

Chou, Pang-Yun; Hallac, Rami R; Shih, Ellen; Trieu, Jenny; Penumatcha, Anjani; Das, Priyanka; Meyer, Clark A; Seaward, James R; Kane, Alex A

2018-03-01

Sculpted physical models and castings of the anatomy of cleft lip and palate are used for parent, patient, and trainee education of cleft lip and palate conditions. In this study, we designed a suite of digital 3-dimensional (3D) models of cleft lip and palate anatomy with additive manufacturing techniques for patient education. CT scans of subjects with isolated cleft palate, unilateral and bilateral cleft lip and palate, and a control were obtained. Soft tissue and bony structures were segmented and reconstructed into digital 3D models. The oral soft tissues overlying the cleft palate were manually molded with silicone putty and scanned using CT to create digital 3D models. These were then combined with the original model to integrate with segmentable soft tissues. Bone and soft tissues were 3D printed in different materials to mimic the rigidity/softness of the relevant anatomy. These models were presented to the parents/patients at our craniofacial clinic. Visual analog scale (VAS) surveys were obtained pertaining to the particular use of the models, to ascertain their value in parental education. A total of 30 parents of children with cleft conditions completed VAS evaluations. The models provided the parents with a better understanding of their child's condition with an overall evaluation score of 9.35 ± 0.5. We introduce a suite of 3D-printed models of cleft conditions that has a useful role in patient, parental, and allied health education with highly positive feedback.

[Psychosocial adjustment in children with a cleft lip and/or palate].

PubMed

Hoek, Ineke H C; Kraaimaat, Floris W; Admiraal, Ronald J C; Kuijpers-Jagtman, Anne Marie; Verhaak, Christianne M

2009-01-01

To gain insight into the psychosocial health of children aged 9 to 12 years with a cleft lip and/or palate; to determine the relation between their health and the nature and severity of the cleft as well as other individual characteristics. Descriptive, cross-sectional study. Questionnaires completed by parents, teachers and children were used to obtain information about the psychosocial health, nature and severity of the cleft lip and/or palate, and individual characteristics of 80 children. The interrelationship between these parameters was assessed using chi-square tests, single-factor analysis of variance and correlational analysis. In general, the psychosocial health of children with a cleft lip and/or palate did not differ from that of the norm groups. Parents of children with a cleft lip/and or palate reported more withdrawn or depressive behaviour in their child than parents from the norm groups. Children with a cleft lip and/or palate exhibited less rule-breaking behaviour. Teachers reported relatively more social problems. One-third of the children had learning problems. A better psychosocial health was associated with fewer speech problems but not with a more or less abnormal physical appearance. Self-image showed a negative correlation with psychosocial health problems, while learning problems showed a positive correlation. In general, the psychosocial health of children with a cleft lip and/or palate does not differ from children without this condition. However, children with a cleft lip and/or palate do exhibit more learning problems.

Post-operative outcomes after cleft palate repair in syndromic and non-syndromic children: a systematic review protocol.

PubMed

Zhang, Zach; Stein, Michael; Mercer, Nigel; Malic, Claudia

2017-03-09

There is a lack of high-level evidence on the surgical management of cleft palate. An appreciation of the differences in the complication rates between different surgical techniques and timing of repair is essential in optimizing cleft palate management. A comprehensive electronic database search will be conducted on the complication rates associated with cleft palate repair using MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials. Two independent reviewers with expertise in cleft pathology will screen all appropriate titles, abstracts, and full-text publications prior to deciding whether each meet the predetermined inclusion criteria. The study findings will be tabulated and summarized. The primary outcomes will be the rate of palatal fistula, the incidence and severity of velopharyngeal insufficiency, and the rate of maxillary hypoplasia with different techniques and also the timing of the repair. A meta-analysis will be conducted using a random effects model. The evidence behind the optimal surgical approach to cleft palate repair is minimal, with no gold standard technique identified to date for a certain type of cleft palate. It is essential to appreciate how the complication rates differ between each surgical technique and each time point of repair, in order to optimize the management of these patients. A more critical evaluation of the outcomes of different cleft palate repair methods may also provide insight into more effective surgical approaches for different types of cleft palates.

Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2.

PubMed

Skare, Øivind; Lie, Rolv T; Haaland, Øystein A; Gjerdevik, Miriam; Romanowska, Julia; Gjessing, Håkon K; Jugessur, Astanand

2018-01-01

Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models. 14,486 X-chromosome SNPs in 1,291 Asian and 1,118 European case-parent triads of isolated OFCs were available from a previous GWAS. For each ethnicity, cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) were analyzed separately using two X-inactivation models and a sliding-window approach to haplotype analysis. In addition, we performed analyses restricted to female offspring. Results: Associations were identified in "Dystrophin" ( DMD , Xp21.2-p21.1), "Fibroblast growth factor 13" ( FGF13 , Xq26.3-q27.1) and "EGF-like domain multiple 6" ( EGFL6 , Xp22.2), with biologically plausible links to OFCs. Unlike EGFL6 , the other associations on chromosomal region Xp22.2 had no apparent connections to OFCs. However, the Xp22.2 region itself is of potential interest because it contains genes for clefting syndromes [for example, "Oral-facial-digital syndrome 1" ( OFD1 ) and "Midline 1" ( MID1 )]. Overall, the identified associations were highly specific for ethnicity, cleft subtype and X-inactivation model, except for DMD in which associations were identified in both CPO and CL/P, in the model with X-inactivation and in Europeans only. Discussion/Conclusion: The specificity of the associations for ethnicity, cleft subtype and X-inactivation model underscores the utility of conducting subanalyses, despite the ensuing need to adjust for additional multiple testing. Further investigations are needed to confirm the associations with DMD, EGF16 , and FGF13 . Furthermore, chromosomal region Xp22.2 appears to be a hotspot for genes implicated in clefting syndromes and thus constitutes an exciting direction to pursue in future OFCs research. More generally, the new methods presented here are readily adaptable to the study of X-linked PoO effects in other outcomes that use a family-based design.

An evaluation of factors influencing feeding in babies with a cleft palate with and without a cleft lip.

PubMed

Martin, Vanessa; Greatrex-White, Sheila

2014-03-01

The objective of this article was to determine the impact of different bottles and teats for feeding babies with a cleft palate (with and without a cleft lip) on weight velocity, feeding behaviour, and maternal self-esteem. A mixed methods study incorporating the use of diaries to record feeding patterns of babies and levels of professional support received was used. Growth was assessed by converting weights into standard deviation scores and using the differences to express weight velocity over a six-week period. Visual analogue scales were used to assess mothers' perceptions of their children and themselves. The Edinburgh Postnatal Depression Score (EPDS) was used to identify maternal depression. The study demonstrated that the most significant effect on weight was determined by cleft type. Babies with isolated clefts of the hard and soft palate experienced greater feeding problems and suffered the biggest weight losses. This remained significant independently of the type of bottle/teat used. Poor weight gain was also associated with a mother's low perception of herself and her child, and her tendency towards depression. The study highlights the importance of the early assessment of babies' feeding skills and regular follow-up and support from trained and experienced nurse specialists.

Potential economic benefit of cleft lip and palate repair in sub-Saharan Africa.

PubMed

Alkire, Blake; Hughes, Christopher D; Nash, Katherine; Vincent, Jeffrey R; Meara, John G

2011-06-01

Acceptance of basic surgical care as an essential element of any properly functioning health system is growing. To justify investment in surgical interventions, donors require estimates of the economic benefit of treating surgical disease. The present study aimed to establish a methodology for valuing the potential economic benefit of surgical intervention using cleft lip and palate (CLP) in sub-Saharan Africa (SSA) as a model. Economic modeling of cleft lip and cleft palate (CLP) in SSA was performed with retrospective demographic and economic data from 2008. The total number of Disability-Adjusted Life-Years (DALYs) secondary to CLP in 2008 was calculated from accepted clefting incidence rates and disability weights taken from the Global Burden of Disease Project. DALYs were then converted to monetary terms ($US), using both a human capital approach and Value of a Statistical Life (VSL) approach. With the human capital approach, the potential economic benefit if all incident cases of CLP in SSA in 2008 were repaired at birth ranged from $252 million to $441 million. With VSL, the potential economic benefit of the same CLP repair would range from $5.4 billion to $9.7 billion. Cleft lip and cleft palate can have a substantial impact on the economic health of countries in the developing world. Further studies should be directed at quantifying the economic benefit of surgical interventions and quantifying their costs with an economically sound approach.

Relationship between chin deviation and the position and morphology of the mandible in individuals with a unilateral cleft lip and palate

PubMed Central

Kim, Kyung-Seon; Park, Soo-Byung; Kim, Seong-Sik; Kim, Yong-Il

2013-01-01

Objective In this study, we aimed to examine the relationship between chin deviation and the positional and morphological features of the mandible and to determine the factors that contributed to chin deviation in individuals with a unilateral cleft lip and palate (UCLP). Methods Cone-beam computed tomography (CBCT) images of 28 adults with UCLP were analyzed in this study. Segmented three-dimensional temporomandibular fossa and mandible images were reconstructed, and angular, linear, and volumetric parameters were measured. Results For all 28 individuals, the chin was found to deviate to the cleft side by 1.59 mm. Moreover, among these 28 individuals, only 7 showed distinct (more than 4 mm) chin deviation, which was toward the cleft side. Compared to the non-cleft side, the mandibular body length, frontal ramal inclination, and vertical position of the condyle were lower and inclination of the temporomandibular fossa was steeper on the cleft side. Furthermore, the differences in inclination of the temporomandibular fossa, mandibular body length, ramus length, and condylar volume ratio (non-deviated/deviated) were positively correlated with chin deviation. Conclusions UCLP individuals show mild chin deviation to the cleft side. Statistical differences were noted in the parameters that represented positional and morphological asymmetries of the mandible and temporomandibular fossa; however, these differences were too small to indicate clinical significance. PMID:24015386

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

PubMed

Savastano, C P; Brito, L A; Faria, Á C; Setó-Salvia, N; Peskett, E; Musso, C M; Alvizi, L; Ezquina, S A M; James, C; GOSgene; Beales, P; Lees, M; Moore, G E; Stanier, P; Passos-Bueno, M R

2017-05-01

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. Genome-wide association studies (GWAS) on NSCL/P have consistently identified association for the 1p22 region, in which ARHGAP29 has emerged as the main candidate gene. ARHGAP29 re-sequencing studies in NSCL/P patients have identified rare variants; however, their clinical impact is still unclear. In this study we identified 10 rare variants in ARHGAP29, including five missense, one in-frame deletion, and four loss-of-function (LoF) variants, in a cohort of 188 familial NSCL/P cases. A significant mutational burden was found for LoF (Sequence Kernel Association Test, p = 0.0005) but not for missense variants in ARHGAP29, suggesting that only LoF variants contribute to the etiology of NSCL/P. Penetrance was estimated as 59%, indicating that heterozygous LoF variants in ARHGAP29 confer a moderate risk to NSCL/P. The GWAS hits in IRF6 (rs642961) and 1p22 (rs560426 and rs4147811) do not seem to contribute to the penetrance of the phenotype, based on co-segregation analysis. Our data show that rare variants leading to haploinsufficiency of ARHGAP29 represent an important etiological clefting mechanism, and genetic testing for this gene might be taken into consideration in genetic counseling of familial cases. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Setting up a cohort study in speech and language therapy: lessons from The UK Cleft Collective Speech and Language (CC-SL) study.

PubMed

Wren, Yvonne; Humphries, Kerry; Stock, Nicola Marie; Rumsey, Nichola; Lewis, Sarah; Davies, Amy; Bennett, Rhiannon; Sandy, Jonathan

2018-05-01

Efforts to increase the evidence base in speech and language therapy are often limited by methodological factors that have restricted the strength of the evidence to the lower levels of the evidence hierarchy. Where higher graded studies, such as randomized controlled trials, have been carried out, it has sometimes been difficult to obtain sufficient power to detect a potential effect of intervention owing to small sample sizes or heterogeneity in the participants. With certain clinical groups such as cleft lip and palate, systematic reviews of intervention studies have shown that there is no robust evidence to support the efficacy of any one intervention protocol over another. To describe the setting up of an observational clinical cohort study and to present this as an alternative design for answering research questions relating to prevalence, risk factors and outcomes from intervention. The Cleft Collective Speech and Language (CC-SL) study is a national cohort study of children born with cleft palate. Working in partnership with regional clinical cleft centres, a sample size of over 600 children and 600 parents is being recruited and followed up from birth to age 5 years. Variables being collected include demographic, psychological, surgical, hearing, and speech and language data. The process of setting up the study has led to the creation of a unique, large-scale data set which is available for researchers to access now and in future. As well as exploring predictive factors, the data can be used to explore the impact of interventions in relation to individual differences. Findings from these investigations can be used to provide information on sample criteria and definitions of intervention and dosage which can be used in future trials. The observational cohort study is a useful alternative design to explore questions around prevalence, risk factors and intervention for clinical groups where robust research data are not yet available. Findings from such a study can be used to guide service-delivery decisions and to determine power for future clinical trials. © 2017 Royal College of Speech and Language Therapists.

Cervical vertebral maturation of female children with orofacial clefts.

PubMed

Sun, Ling; Li, Wei Ran

2013-09-01

Objective : To evaluate the skeletal maturation of girls with orofacial clefts using the cervical vertebral maturation method. Design : Case-control study. Setting : The School of Stomatology, Peking University. Patients : A total of 173 girls with cleft lip and/or palate from 8 to 16 years old were compared with 1038 age-matched girls without clefts. Results : In the 8- to 9-year-olds, most of the girls from both groups were in cervical stage 1. In the 14- to 15-year-olds and 15- to 16-year-olds, almost all the girls from both groups were in cervical stages 5 and 6, and most of the 15- to 16-year-old girls were in cervical stage 6. Differences existed in each year for 9- to 14-year-olds, which was confirmed by statistical analysis. After ordinal logistical regression of data from girls 9 to 14 years of age, girls of the same age in the non-cleft lip and/or palate group were associated with 1.559 times the odds of having achieved higher cervical stages than those in the cleft lip and/or palate group. Most girls without cleft lip and/or palate were in cervical stages 3 and 4 in the 11- to 12-year-olds; whereas, it was not so obvious in the girls with cleft lip and/or palate. By the age of 12, girls with cleft lip and/or palate had 2.667 times the risk of delayed cervical stage 3, and the 95% confidence interval for the odds ratio was 1.013 to 7.019. Conclusions : Girls with cleft lip and/or palate are at a higher risk of delayed pubertal growth.

Psychosocial Aspects of Cleft Lip and Palate: Implications for Parental Education. Research Report 138.

ERIC Educational Resources Information Center

Kalland, Mirjam

This study focused on the psychosocial aspects of cleft lip and/or palate on maternal emotional reactions and the family, with emphasis on the effect on the maternal-infant bond. Interviews were conducted with 40 mothers of 1-year-old infants with non-syndromic cleft lip and/or palate. The interviews were analyzed using the phenomenological…

Cleft palate repair and variations

PubMed Central

Agrawal, Karoon

2009-01-01

Cleft palate affects almost every function of the face except vision. Today a child born with cleft palate with or without cleft lip should not be considered as unfortunate, because surgical repair of cleft palate has reached a highly satisfactory level. However for an average cleft surgeon palatoplasty remains an enigma. The surgery differs from centre to centre and surgeon to surgeon. However there is general agreement that palatoplasty (soft palate at least) should be performed between 6-12 months of age. Basically there are three groups of palatoplasty techniques. One is for hard palate repair, second for soft palate repair and the third based on the surgical schedule. Hard palate repair techniques are Veau-Wardill-Kilner V-Y, von Langenbeck, two-flap, Aleveolar extension palatoplasty, vomer flap, raw area free palatoplasty etc. The soft palate techniques are intravelar veloplasty, double opposing Z-plasty, radical muscle dissection, primary pharyngeal flap etc. And the protocol based techniques are Schweckendiek's, Malek's, whole in one, modified schedule with palatoplasty before lip repair etc. One should also know the effect of each technique on maxillofacial growth and speech. The ideal technique of palatoplasty is the one which gives perfect speech without affecting the maxillofacial growth and hearing. The techniques are still evolving because we are yet to design an ideal one. It is always good to know all the techniques and variations so that one can choose whichever gives the best result in one's hands. A large number of techniques are available in literature, and also every surgeon incorporates his own modification to make it a variation. However there are some basic techniques, which are described in details which are used in various centres. Some of the important variations are also described. PMID:19884664

Factors Associated With Adherence to Nasoalveolar Molding (NAM) by Caregivers of Infants Born With Cleft Lip and Palate.

PubMed

Esmonde, Nick O; Garfinkle, Judah S; Chen, Yiyi; Lambert, William E; Kuang, Anna A

2018-02-01

Identify factors associated with adherence to nasoalveolar molding (NAM) therapy. Retrospective case-control study. Tertiary referral center. Infants with cleft lip, with or without cleft palate, referred for NAM. One hundred thirty-five patients met criteria. Adherence to NAM therapy, defined as continuous use of the appliance and attendance of NAM adjustment visits. Female sex (OR = 2.85, 95% CI 1.21-6.74), bilateral cleft (OR = 2.88, 95% CI 1.29-6.46), and travel distance (OR = 1.01, 95% CI 1.00-1.01) were independent predictors of nonadherence. Bilateral clefts (OR = 8.35, 95% CI 2.72-25.64) and public-payer insurance (OR = 3.67, 95% CI 1.13-11.91) for male patients were significantly associated with nonadherence, in our sex-stratified multivariate model. The majority of the families (58%) had public health insurance. Males comprised 77.0% of the cohort. NAM treatment adherence is impaired by bilateral clefts, female sex, increased travel distance, and public insurance. Further studies are warranted to investigate how these factors affect adherence, and to develop interventions to improve adherence in families at risk due to economic or psychosocial barriers.

Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

ERIC Educational Resources Information Center

McDonald, Eugene T.; Berlin, Asa J.

Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

Incidence of oronasal fistula formation after nasoalveolar molding and primary cleft repair.

PubMed

Dec, Wojciech; Shetye, Pradip R; Grayson, Barry H; Brecht, Lawrence E; Cutting, Court B; Warren, Stephen M

2013-01-01

The incidence of postoperative complications in cleft care is low. In this 19-year retrospective analysis of cleft lip and palate patients treated with preoperative nasoalveolar molding, we examine the incidence of postoperative oronasal fistulae. The charts of 178 patients who underwent preoperative nasoalveolar molding by the same orthodontist/prosthodontist team and primary cleft lip/palate repair by the same surgeon over a 19-year period were reviewed. Millard, Mohler, Cutting, or Mulliken-type techniques were used for cleft lip repairs. Oxford-, Bardach-, or von Langenbeck-type techniques were used for cleft palate repairs. One nasolabial fistula occurred after primary cleft lip repair (0.56% incidence) and was repaired surgically. Four palatal fistulae (3 at the junction between soft and hard palate and 1 at the right anterior palate near the incisive foramen) occurred, but 3 healed spontaneously. Only 1 palatal fistula (0.71%) required surgical repair. All 5 fistulae occurred within the first 8 years of the study period, with 4 (80%) of 5 occurring within the first 3 years. Although fistula rate may be related to surgeon experience and the evolution of presurgical techniques, nasoalveolar molding in conjunction with nasal floor closure contributes to a low incidence of oronasal fistulae.

Timing and sequence of primary tooth eruption in children with cleft lip and palate

PubMed Central

KOBAYASHI, Tatiana Yuriko; GOMIDE, Márcia Ribeiro; CARRARA, Cleide Felício de Carvalho

2010-01-01

Objective To determine the timing and sequence of eruption of primary teeth in children with complete bilateral cleft lip and palate. Material and Methods This cross-sectional study was conducted at the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, Bauru, SP, Brazil, with a sample of 395 children (128 girls and 267 boys) aged 0 to 48 months, with complete bilateral cleft lip and palate Results Children with complete bilateral clefts presented a higher mean age of eruption of all primary teeth for both arches and both genders, compared to children without clefts. This difference was statistically significant for all teeth, except for the maxillary first molar. Mean age of eruption of most teeth was lower for girls compared to boys. The greatest delay was found for the maxillary lateral incisor, which was the eighth tooth of children with clefts of both genders. Analyzing by gender, the maxillary lateral incisor was the eighth tooth to erupt in girls and the last in boys. Conclusion The results suggest an interference of the cleft on the timing and sequence of eruption of primary teeth. PMID:20856997

Language Parameters of 4- to 7-Year-Old Persian-Speaking Children with Cleft Lip and Palate.

PubMed

Ghayoumi Anaraki, Zahra; Faham, Maryam; Derakhshandeh, Fatemeh; Hashemi Hosseinabad, Hedieh; Haresabadi, Fatemeh

2016-01-01

There are several risk factors including hearing difficulties, lack of language stimulation, and parents' low level of expectation leading to language disorders in children with cleft palate. Therefore, formal language assessments of children with cleft palate are of great importance in order to prevent further disabilities. The purpose of the present study is to evaluate language parameters in 4- to 7-year old Persian-speaking children with cleft palate. 16 children with unilateral and bilateral cleft lip and palate aged between 4 and 7 years participated in the experiment. The Test of Language Development-Primary, third edition (TOLD-P3) was performed to evaluate the language parameters. The results were scored according to the test manual and compared to normative data published with the TOLD-P3. t test analysis showed a significant difference between language parameters in children with cleft lip and palate and the normative data (p < 0.0001). Furthermore, there was a positive correlation between different aspects of language performance. The findings emphasize that speech-language pathologists should also concentrate on early language assessment and treatment for children with cleft lip and palate. © 2016 S. Karger AG, Basel.

Prevalence of cleft lip and cleft palate in rural north-central guatemala.

PubMed

Matute, Jorge; Lydick, Elaine A; Torres, Olga R; Owen, Karen K; Jacobsen, Kathryn H

2015-05-01

To estimate the number of new cases of cleft lip and cleft palate in the department (state) of Alta Verapaz, Guatemala, in 2012. Cross-sectional survey of midwives from communities identified through a two-stage cluster-sampling process. Midwives were asked how many babies they had delivered in the past year and how many of those newborns had various types of birth defects, as illustrated in pictures. Indigenous Mayan communities in rural north-central Guatemala. Midwives (n = 129) who had delivered babies in the previous year. Reports of babies born with cleft lip and cleft palate. A 1-year prevalence rate of 18.9 per 10,000 for cleft lip and 4.7 per 10,000 for cleft palate was estimated for Alta Verapaz. None of the cases of cleft lip also had cleft palate. The indigenous communities in north-central Guatemala might have a relatively high cleft lip prevalence rate compared with the global average.

Helping the Child with a Cleft Palate in Your Classroom.

ERIC Educational Resources Information Center

Moran, Michael J.; Pentz, Arthur L.

1995-01-01

Guidelines for teachers of a student with a cleft palate include understand the physical problem; know what kind of speech problem to expect; be alert to the possibility of language-based learning difficulties; watch for signs of hearing loss; be alert to socialization problems; help the student make up work; and avoid self-fulfilling prophecies.…

Ethics in Numbers: Auditing Cleft Treatment in Mexico and Beyond.

PubMed

Taylor-Alexander, Samuel

2017-09-01

Plastic surgeons around the globe are implementing projects that mix audit with medical research to ensure and improve the level of care offered to patients with cleft lip and palate. Drawing on recent literature on "audit culture" and the global growth of "performance indicators" as a form of governance, I demonstrate the conjugation of ethics and the production of numerical indicators in cleft treatment. By standardizing documentation, cleft treatment audit programs facilitate evidence-based medicine and a form of reflexive self-governance. However, the abstraction that accompanies standardization is amplified as corollary data practices travel. In emerging as the answer to improving treatment, these projects lock out the politico-economic factors that mediate medical care in resource poor settings. This danger is compounded by the tendency of numerical governance to replace political conversation with technocratic expertise. © 2016 by the American Anthropological Association.

Project Centaur. [for earth dayside magnetic cleft investigation

NASA Technical Reports Server (NTRS)

Brence, W. A.; Hardin, J. W.; Crook, E. D.; Roberts, H.

1982-01-01

The National Aeronautics and Space Administration (NASA) and the Canada Centre for Space Science, National Research Council of Canada (NRCC), conducted a cooperative sounding rocket campaign in the Canadian Arctic during November/December 1981. The objective of the campaign was to investigate the earth's dayside magnetic cleft region. The project was named CENTAUR for Cleft Energetics Transport and Ultraviolet Radiation. Remote launch support facilities were established at Cape Parry, NWT, Canada (70 deg 10 min N latitude, 124 deg 40 min W longitude). The cleft region is accessible from this location when launched poleward during reasonably quiet magnetic activity. Five large sounding rockets were launched (3 NASA, 2 NRCC). About 30 scientific experiments were launched, and an extensive array of ground based experiments was established at Cape Parry and at Sachs Harbour, Banks Island, 130 miles poleward. This paper discusses the unique organization, planning, facilities, instrumentation, and operation required to support the campaign, and looks briefly at the results.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

PubMed

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

An access to care study for the pre-surgical nasoalveolar molding and other treatments for cleft lip and palate.

PubMed

Blume, Carlen P; Henson, Timothy B

2011-07-01

This study is designed to ascertain whether a regional bias exists, as well as provide a reference to those seeking the various modalities used in pre-surgical intervention for cleft lip and palate either for their own patients or educational purposes. A survey was constructed using Survey Monkey and distributed via e-mail to American Academy of Pediatric Dentistry members. Approximately 3689 surveys were delivered consisting of 12 questions asking whether they provide pre-surgical intervention to cleft lip and palate patients, and what type of interventions they use. A total of 572 members responded. Of the respondents, 480 reported they treat children affected by cleft lip and/or cleft palate. Of these, only 102 reported that they provide pre-surgical treatment. Pre-surgical nasoalveolar molding (PNAM) represented 29.2 percent of the interventions used and was most heavily concentrated in Texas. Other modalities used included the Latham appliance, lip adhesion/tacking, the passive appliance, and a category 'other' was included. Those checking 'other' most often described alveolar grafting prior to later surgical procedures than were of interest in this study. The University of Texas Health Science Center San Antonio had the largest number of respondents using the PNAM. A very small proportion of pediatric dentists are providing pre-surgical intervention of any kind to patients with cleft lip and palate. However, those that are providing the service are spread around the country enough to consider PNAM as the standard of care for pre-surgical infant cleft treatment.

Three-dimensional facial anthropometry of unilateral cleft lip infants with a structured light scanning system.

PubMed

Li, Guanghui; Wei, Jianhua; Wang, Xi; Wu, Guofeng; Ma, Dandan; Wang, Bo; Liu, Yanpu; Feng, Xinghua

2013-08-01

Cleft lip in the presence or absence of a cleft palate is a major public health problem. However, few studies have been published concerning the soft-tissue morphology of cleft lip infants. Currently, obtaining reliable three-dimensional (3D) surface models of infants remains a challenge. The aim of this study was to investigate a new way of capturing 3D images of cleft lip infants using a structured light scanning system. In addition, the accuracy and precision of the acquired facial 3D data were validated and compared with direct measurements. Ten unilateral cleft lip patients were enrolled in the study. Briefly, 3D facial images of the patients were acquired using a 3D scanner device before and after the surgery. Fourteen items were measured by direct anthropometry and 3D image software. The accuracy and precision of the 3D system were assessed by comparative analysis. The anthropometric data obtained using the 3D method were in agreement with the direct anthropometry measurements. All data calculated by the software were 'highly reliable' or 'reliable', as defined in the literature. The localisation of four landmarks was not consistent in repeated experiments of inter-observer reliability in preoperative images (P<0.05), while the intra-observer reliability in both pre- and postoperative images was good (P>0.05). The structured light scanning system is proven to be a non-invasive, accurate and precise method in cleft lip anthropometry. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Mechanical coupling in myosin V: a simulation study

PubMed Central

Ovchinnikov, Victor; Trout, Bernhardt L.

2009-01-01

Myosin motor function depends on the interaction between different domains that transmit information from one part of the molecule to another. The inter-domain coupling in myosin V is studied with Restrained Targeted Molecular Dynamics (RTMD) using an all-atom representation in explicit solvent. To elucidate the origin of the conformational change due to the binding of ATP, targeting forces are applied to small sets of atoms (the forcing sets, FS) in the direction of their displacement from the rigor conformation, which has a closed actin-binding cleft, to the post-rigor conformation, in which the cleft is open. The ‘minimal’ FS that results in extensive structural changes in the overall myosin conformation is comprised of the ATP, Switch 1, and the nearby HF, HG and HH helices. Addition of switch 2 to the forcing set is required to achieve a complete opening of the actin-binding cleft. The RTMD simulations reveal the mechanical coupling pathways between (i) the nucleotide-binding pocket (NBP) and the actin-binding cleft, (ii) the NBP and the converter, and (iii) the actin-binding cleft and the converter. Closing of the NBP due to ATP binding is tightly coupled to the opening of the cleft, and leads to the rupture of a key hydrogen bond (F441N/A684O) between switch 2 and the SH1 helix. The actin-binding cleft may mediate the rupture of this bond via a connection between the HW helix, the Relay helix, and Switch 2. The findings are consistent with experimental studies and a recent normal mode analysis. The present method is expected to be useful more generally in studies of inter-domain coupling in proteins. PMID:19853615

Mechanical coupling in myosin V: a simulation study.

PubMed

Ovchinnikov, Victor; Trout, Bernhardt L; Karplus, Martin

2010-01-29

Myosin motor function depends on the interaction between different domains that transmit information from one part of the molecule to another. The interdomain coupling in myosin V is studied with restrained targeted molecular dynamics using an all-atom representation in explicit solvent. To elucidate the origin of the conformational change due to the binding of ATP, targeting forces are applied to small sets of atoms (the forcing sets, FSs) in the direction of their displacement from the rigor conformation, which has a closed actin-binding cleft, to the post-rigor conformation, in which the cleft is open. The "minimal" FS that results in extensive structural changes in the overall myosin conformation is composed of ATP, switch 1, and the nearby HF, HG, and HH helices. Addition of switch 2 to the FS is required to achieve a complete opening of the actin-binding cleft. The restrained targeted molecular dynamics simulations reveal the mechanical coupling pathways between (i) the nucleotide-binding pocket (NBP) and the actin-binding cleft, (ii) the NBP and the converter, and (iii) the actin-binding cleft and the converter. Closing of the NBP due to ATP binding is tightly coupled to the opening of the cleft and leads to the rupture of a key hydrogen bond (F441N/A684O) between switch 2 and the SH1 helix. The actin-binding cleft may mediate the rupture of this bond via a connection between the HW helix, the relay helix, and switch 2. The findings are consistent with experimental studies and a recent normal mode analysis. The present method is expected to be useful more generally in studies of interdomain coupling in proteins.

Development of the object permanence concept in cleft lip and palate and noncleft lip and palate infants.

PubMed

Pecyna, P M; Feeney-Giacoma, M E; Neiman, G S

1987-06-01

Studies of language acquisition in cleft lip and palate infants have not investigated the development of specific cognitive concepts, such as object permanence, which may be related to early linguistic skills. This study obtained comparative data on the development of the object permanence concept in cleft lip and palate and noncleft lip and palate infants to determine whether there were significant differences in rate or sequence of development. Infants were tested for the object permanence concept from 12 through 18 months of age. Results revealed significant improvement in all infants' scores with age, indicating progressive development of the concept. Further, while scores were not significantly different between the cleft lip and palate groups, scores for these groups were significantly better than scores for noncleft lip and palate infants. Superior performance of the cleft lip and palate infants may have resulted from increased environmental stimulation provided by their parents. Implications for intervention and future research in this area are presented.

The Relationship of Exposure to Anesthesia on Outcomes in Children with Isolated Oral Clefts

PubMed Central

Conrad, Amy L.; Goodwin, Jon; Choi, James; Block, Robert I.; Nopoulos, Peg

2016-01-01

This study evaluated the relationship between exposure to anesthesia and previously identified differences in cognitive functioning, growth, and volumetric brain measures among a sample of children, adolescents, and young adults with isolated oral clefts (iCL/P). Data from a cross-sectional study was combined with a retrospective chart review. Data was obtained for 87 participants with iCL/P (55% male), ranging from 7.5 to 27 years old (mean = 15.78 [SD = 4.58]). Measures of interest included cognitive functioning, growth measures, and brain volumes. Number of surgeries and time under anesthesia were obtained through systematic medical record review. Potential sex and cleft type differences in exposure as well as relationships between anesthesia exposure and outcome measures were evaluated. Participants with isolated cleft lip and palate had more surgeries and were under anesthesia longer. For participants with isolated cleft lip only, more surgeries were correlated to lower verbal IQ and higher frontal lobe volume. PMID:28193114

Secondary Alveolar Bone Grafting in Patients Born With Unilateral Cleft Lip and Palate: A 20-Year Follow-up.

PubMed

Jabbari, Fatemeh; Wiklander, Laila; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

2018-02-01

To identify factors of oral health important for the final outcome, after secondary alveolar bone grafting in patients born with unilateral cleft lip and palate and compare occlusal radiographs with cone beam computed tomography (CBCT) in assessment of alveolar bone height. Observational follow-up study. Cleft Lip and Palate Team, Craniofacial Center, Uppsala University Hospital, Sweden. 40 nonsyndromic, Caucasian patients with unilateral complete cleft lip and palate. Clinical examination, CBCT, and occlusal radiographs. Alveolar bone height was evaluated according to Bergland index at a 20-year follow-up. The alveolar bone height in the cleft area was significantly reduced compared to a previously reported 10-year follow-up in the same cohort by total ( P = .045) and by subgroup with dental restoration ( P = .0078). This was positively correlated with the gingival bleeding index (GBI) ( r = 0.51, P = .0008) and presence of dental restorations in the cleft area ( r = 0.45, P = .0170). There was no difference in the Bergland index generated from scoring the alveolar bone height on occlusal radiographs as with the equivalent index on CBCT. Patients rehabilitated with complex dental restoration seems to be at higher risk for progression of bone loss in the cleft area. Supportive periodontal therapy should be implemented after complex dental restorations in cleft patients. Conventional occlusal radiographs provide an adequate image for evaluating postoperative bone height in clinical follow-up.

Transverse mucoperiosteal flap inset by rotation for cleft palate repair: technique and outcomes.

PubMed

Black, Jonathan S; Gampper, Thomas J

2014-01-01

Cleft palate is a relatively common deformity with various techniques described for its repair. Most techniques address the hard palate portion of the cleft with bilateral mucoperiosteal flaps transposed to the midline. This results in superimposed, linear closure layers directly over the cleft and may predispose the repair to oronasal fistula formation. This report details an alternative technique of flap rotation with an outcome analysis. A retrospective chart analysis was performed of all patients having undergone primary palatoplasty for cleft palate. Demographics and cleft Veau type were recorded. Postoperative speech outcomes were assessed by standardized speech evaluation performed by 2 speech language pathologists. The presence and location of oronasal fistulae was assessed and recorded by the surgeon and speech language pathologists in follow-up evaluations. The study revealed an overall incidence of velopharyngeal insufficiency of 5.7% using this surgical technique. It also revealed a fistula rate of 8.6%. Secondary surgery has been successful in those patients in which it was indicated. Eleven (31%) patients were diagnosed with Robin sequence. This technique demonstrates excellent early outcomes in a difficult subset of cleft patients including a high proportion of those with Pierre Robin sequence. The technique addresses the inherent disadvantages to a linear closure over the bony cleft. The variability in its design provides the surgeon another option for correction of this deformity.

Maxillary hypoplasia in the cleft patient: contribution of orthodontic dental space closure to orthognathic surgery.

PubMed

Lee, Justine C; Slack, Ginger C; Walker, Ryann; Graves, Lindsay; Yen, Sandra; Woo, Jessica; Ambaram, Rishal; Martz, Martin G; Kawamoto, Henry K; Bradley, James P

2014-02-01

Cleft lip and palate surgery in the developing child is known to be associated with maxillary hypoplasia. However, the effects of nonsurgical manipulations on maxillary growth have not been well investigated. The authors present the contribution of orthodontic dental space closure with canine substitution to maxillary hypoplasia and the need for orthognathic surgery. Cleft lip/palate and cleft palate patients older than 15 years of age were reviewed for dental anomalies, orthodontic canine substitution, and Le Fort I advancement. Skeletal relationships of the maxilla to the skull base (SNA), mandible (ANB), and facial height were determined on lateral cephalograms. Logistic regression analyses were performed to estimate odds ratios. Ninety-five patients were reviewed (mean age, 18.1 years). In 65 patients with congenitally missing teeth, 55 percent with patent dental spaces required Le Fort I advancement. In contrast, 89 percent who underwent canine substitution required Le Fort I advancement (p = 0.004). Canine substitution is associated with a statistically significant increase in maxillary retrognathia when compared with dental space preservation on lateral cephalograms (mean SNA, 75.2 and 79.0, respectively; p = 0.006). Adjusting for missing dentition, logistic regression analyses demonstrated that canine substitution is an independent predictor for orthognathic surgery (OR, 6.47) and maxillary retrusion defined by SNA < 78 (OR, 8.100). The coordination of orthodontia and surgery is essential to cleft care. The authors report a strong association between orthodontic cleft closure using canine substitution with maxillary hypoplasia and subsequent Le Fort I advancement, and suggest systematic criteria for management of cleft-related dental agenesis. Therapeutic, III.

Oral Health–Related Quality of Life and Self-Rated Speech in Children With Existing Fistulas in Mid-Childhood and Adolescence

PubMed Central

Long, Ross E.; Wilson-Genderson, Maureen; Grayson, Barry H.; Flores, Roberto; Broder, Hillary L.

2016-01-01

Objective To report the associations of oro-nasal fistulae on the patient-centered outcomes oral health–related quality of life and self-reported speech outcomes in school aged-children. Design Prospective, nonrandomized multicenter design. Setting Six ACPA-accredited cleft centers. Participants Patients with cleft palate at the age of mixed dentition. Interventions None. Main Outcome Measures Prevalence of fistula and location of fistula (Pittsburgh Classification System). Patients were placed into one of three groups based on the following criteria: alveolar cleft present, no previous repair (Group 1); alveolar cleft present, previously repaired (Group 2); no congenital alveolar cleft (Group 3). Presence of fistula and subgroup classification were correlated to oral health–related quality of life (Child Oral Health Impact Profile [COHIP]) and perceived speech outcomes. Results The fistula rate was 5.52% (62 of 1198 patients). There was a significant difference in fistula rate between the three groups: Group 1 (11.15%), Group 2 (4.44%), Group 3 (1.90%). Patients with fistula had significantly lower COHIP scores (F1,1188 = 4.79; P = .03) and worse self-reported speech scores (F1,1197 = 4.27; P = .04). Group 1 patients with fistula had the lowest COHIP scores (F5,1188 = 4.78, P =.02) and the lowest speech scores (F5,1188 = 3.41, P = .003). Conclusions Presence of palatal fistulas was associated with lower oral health–related quality of life and perceived speech among youth with cleft. The poorest outcomes were reported among those with the highest fistula rates, including an unrepaired alveolar cleft. PMID:26437081

Three-dimensional facial analysis of Chinese children with repaired unilateral cleft lip and palate

NASA Astrophysics Data System (ADS)

Othman, Siti Adibah; Aidil Koay, Noor Airin

2016-08-01

We analyzed the facial features of Chinese children with repaired unilateral cleft lip and palate (UCLP) and compared them with a normal control group using a three-dimensional (3D) stereophotogrammetry camera. This cross-sectional study examined 3D measurements of the facial surfaces of 20 Chinese children with repaired UCLP and 40 unaffected Chinese children aged 7 to 12 years old, which were captured using the VECTRA 3D five-pod photosystem and analyzed using Mirror software. Twenty-five variables and two ratios were compared between both groups using independent t-test. Intra- and inter-observer reliability was determined using ten randomly selected images and analyzed using intra-class correlation coefficient test (ICC). The level of significance was set at p < 0.0018. Intra- and inter-observers’ reliability was considered fair to excellent with an ICC value ranging from 0.54 to 0.99. Statistically significant differences (p < 0.0018) were found mainly in the nasolabial region. The cleft group exhibited wider alar base root width, flattened nose and broader nostril floor width on the cleft side. They tended to have shorter upper lip length and thinner upper vermillion thickness. Faces of Chinese children with repaired UCLP displayed meaningful differences when compared to the normal group especially in the nasolabial regions.

Using ultrasound to quantify tongue shape and movement characteristics.

PubMed

Zharkova, Natalia

2013-01-01

Objective : Previous experimental studies have demonstrated abnormal lingual articulatory patterns characterizing cleft palate speech. Most articulatory information to date has been collected using electropalatography, which records the location and size of tongue-palate contact but not the tongue shape. The latter type of data can be provided by ultrasound. The present paper aims to describe ultrasound tongue imaging as a potential tool for quantitative analysis of tongue function in speakers with cleft palate. A description of the ultrasound technique as applied to analyzing tongue movements is given, followed by the requirements for quantitative analysis. Several measures are described, and example calculations are provided. Measures : Two measures aim to quantify overuse of tongue dorsum in cleft palate articulations. Crucially for potential clinical applications, these measures do not require head-to-transducer stabilization because both are based on a single tongue curve. The other three measures compare sets of tongue curves, with the aim to quantify the dynamics of tongue displacement, token-to-token variability in tongue position, and the extent of separation between tongue curves for different speech sounds. Conclusions : All measures can be used to compare tongue function in speakers with cleft palate before and after therapy, as well as to assess their performance against that in typical speakers and to help in selecting more effective treatments.

Cleft Lip and Cleft Palate

MedlinePlus

... to obese women may have increased risk of cleft lip and palate. Males are more likely to have a cleft ... more common in females. In the United States, cleft lip and palate are reportedly most common in Native Americans and ...

Cleft extension and risks of other birth defects in children with isolated cleft palate.

PubMed

Chetpakdeechit, Woranuch; Mohlin, Bengt; Persson, Christina; Hagberg, Catharina

2010-03-01

To study the risks of having other birth defects in children born with an isolated cleft palate (iCP) when the length of the cleft was taken into account. The hypothesis was that a newborn with an extensive cleft lesion may have an increased risk of other birth defects compared to a child with a less extensive cleft of the palate. All Caucasian children with iCP born between 1975 and 2005 in the southwestern region of Sweden were included. Data were collected from standardized medical records and the length of the cleft was checked on the pre-surgical dental cast for each child. A total of 343 children were born with an iCP. The incidence was 0.64/1000 live births. Thirty-four percent of children with either a total or partial iCP had other birth defects. The risk was 1.7 times higher for a total compared to a partial iCP. The two most common birth defects were congenital heart disease and intellectual disability. Ear problems related to infections were registered in 43% of cases. Fifteen percent of the children had the Pierre Robin sequence, which was analyzed as a separate variable and not included as a birth defect. The length of the iCP was found to influence the risk of having another birth defect as the total palatal clefts were more often combined with other birth defects compared to partial clefts. Careful medical check-ups are important for newborns with iCP since they have increased risks of other birth defects.

Tbx1 regulates oral epithelial adhesion and palatal development

PubMed Central

Funato, Noriko; Nakamura, Masataka; Richardson, James A.; Srivastava, Deepak; Yanagisawa, Hiromi

2012-01-01

Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate. However, the etiology of these forms of cleft palate has not been well understood. T-box transcriptional factor (Tbx) family of transcriptional factors has distinct roles in a wide range of embryonic differentiation or response pathways. Here, we show that genetic disruption of Tbx1, a major candidate gene for the human congenital disorder 22q11.2 deletion syndrome (Velo-cardio-facial/DiGeorge syndrome), led to abnormal epithelial adhesion between the palate and mandible in mouse, resulting in various forms of cleft palate similar to human conditions. We found that hyperproliferative epithelium failed to undergo complete differentiation in Tbx1-null mice (Tbx1−/−). Inactivation of Tbx1 specifically in the keratinocyte lineage (Tbx1KCKO) resulted in an incomplete cleft palate confined to the anterior region of the palate. Interestingly, Tbx1 overexpression resulted in decreased cell growth and promoted cell-cycle arrest in MCF7 epithelial cells. These findings suggest that Tbx1 regulates the balance between proliferation and differentiation of keratinocytes and is essential for palatal fusion and oral mucosal differentiation. The impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1−/− mice. Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis. PMID:22371266

Active Surveillance of Birth Defects Among US Department of Defense Beneficiaries: A Feasibility Study

DTIC Science & Technology

1999-05-01

cleft palate / lip , upper alimentary, male reproductive, and urinary tract birth defects than the active surveillance database. Prevalence for the...the passive CEIS surveillance contained a smaller number of cleft palate / lip , upper alimentary, male reproductive, and urinary tract birth defects...Cardiovascular 33 29 8 63 Respiratory 4 3 0 4 Cleft palate / lip 12 4 3 14 Upper alimentary

Surgeons’ Assessment of Presurgical Clefts and Predicted Surgical Outcome in Patients Treated with and without Nasoalveolar Molding

PubMed Central

Rubin, Marcie S.; Clouston, Sean; Ahmed, Mohammad M.; Lowe, Kristen; Shetye, Pradip R.; Broder, Hillary L.; Warren, Stephen M.; Grayson, Barry H.

2014-01-01

Obtaining an aesthetic and functional primary surgical repair in patients with complete cleft lip and palate (CLP) can be challenging due to tissue deficiencies and alveolar ridge displacement. This study aimed to describe surgeons’ assessments of presurgical deformity and predicted surgical outcomes in patients with complete unilateral and bilateral CLP (UCLP and BCLP, respectively) treated with and without nasoalveolar molding (NAM). Cleft surgeon members of the American Cleft Palate-Craniofacial Association completed online surveys to evaluate 20 presurgical photograph sets (frontal and basal views) of patients with UCLP (n=10) and BCLP (n=10) for severity of cleft deformity, quality of predicted surgical outcome, and likelihood of early surgical revision. Five patients in each group (UCLP and BCLP) received NAM and five did not receive NAM. Surgeons were masked to patient group. Twenty-four percent (176/731) of surgeons with valid email addresses responded to the survey. For patients with UCLP, surgeons reported that for NAM-prepared patients 53.3% had minimum severity clefts, 58.9% were anticipated to be among their best surgical outcomes, and 82.9% were unlikely to need revision surgery. For patients with BCLP, these percentages were 29.8%, 38.6%, and 59.9%, respectively. Comparing NAM to non-NAM prepared patients showed statistically significant differences (p < 0.001), favoring NAM-prepared patients. This study suggests that cleft surgeons assess NAM-prepared patients as more likely to have less severe clefts, to be among the best of their surgical outcomes, and to be less likely to need revision surgery when compared to patients not prepared with NAM. PMID:25534051

Assessment of presurgical clefts and predicted surgical outcome in patients treated with and without nasoalveolar molding.

PubMed

Rubin, Marcie S; Clouston, Sean; Ahmed, Mohammad M; M Lowe, Kristen; Shetye, Pradip R; Broder, Hillary L; Warren, Stephen M; Grayson, Barry H

2015-01-01

Obtaining an esthetic and functional primary surgical repair in patients with complete cleft lip and palate (CLP) can be challenging because of tissue deficiencies and alveolar ridge displacement. This study aimed to describe surgeons' assessments of presurgical deformity and predicted surgical outcomes in patients with complete unilateral and bilateral CLP (UCLP and BCLP, respectively) treated with and without nasoalveolar molding (NAM). Cleft surgeon members of the American Cleft Palate-Craniofacial Association completed online surveys to evaluate 20 presurgical photograph sets (frontal and basal views) of patients with UCLP (n = 10) and BCLP (n = 10) for severity of cleft deformity, quality of predicted surgical outcome, and likelihood of early surgical revision. Five patients in each group (UCLP and BCLP) received NAM, and 5 patients did not receive NAM. Surgeons were masked to patient group. Twenty-four percent (176/731) of surgeons with valid e-mail addresses responded to the survey. For patients with UCLP, surgeons reported that, for NAM-prepared patients, 53.3% had minimum severity clefts, 58.9% were anticipated to be among their best surgical outcomes, and 82.9% were unlikely to need revision surgery. For patients with BCLP, these percentages were 29.8%, 38.6%, and 59.9%, respectively. Comparing NAM-prepared with non-NAM-prepared patients showed statistically significant differences (P < 0.001), favoring NAM-prepared patients. This study suggests that cleft surgeons assess NAM-prepared patients as more likely to have less severe clefts, to be among the best of their surgical outcomes, and to be less likely to need revision surgery when compared with patients not prepared with NAM.

Proper size of endotracheal tube for cleft lip and palate patients and intubation outcomes.

PubMed

Abdollahifakhim, Shahin; Sheikhzadeh, Dariush; Shahidi, Nikzad; Nojavan, Gholamreza; Bayazian, Gholamreza; Aleshi, Hamideh

2013-05-01

The aim of the current study was to identify the proper size of endotracheal tube for intubation of cleft lip and palate patients and intubation outcomes in these patients. In this analytic cross-sectional study, 60 nonsyndromic cleft lip and palate patients were selected who had surgery between April 2010 and April 2012 at Pediatrics Hospital, Tabriz University of Medical Sciences, Iran. Demographic findings, previous admissions, and surgical history were registered. The proper tube size was measured by normal children formulas. Then tube size was confirmed by patients' minimum resistance to intubation, proper ventilation reported by anesthesiologist, and appropriate air leakage at an airway pressure of 15-20 cm H₂O. If intubation was unsuccessful then smaller size of endotracheal tube would be tried. Frequency of intubation trials and the biggest endotracheal tube size were recorded. Their average age, weight and height were 21.39 ± 4.95 months, 9.97 ± 1.18 kg and 74.30 ± 26.61 cm, respectively. The average tracheal tube size and frequency of intubation trials were 4.34 ± 0.78 and 1.63 ± 0.80, respectively. Seven cases required an endotracheal tube size smaller than the recommended size for that age including one case in unilateral cleft palate, three cases in unilateral cleft lip, one case in unilateral cleft lip and palate, and two cases in bilateral cleft lip and palate. Findings proved that considering subglottic stenosis incidence in these children, it is reasonable to determine the tube size for nonsyndromic cleft lip and palate patients by applying the currently available standards for normal children. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Maternal Folic Acid Supplementation and the Risk of Oral Clefts in Offspring.

PubMed

Jahanbin, Arezoo; Shadkam, Elaheh; Miri, Hamid Heidarian; Shirazi, Alireza Sarraf; Abtahi, Mostafa

2018-05-14

There is controversial evidence from the literature regarding the protective effect of folic acid supplementation during pregnancy against orofacial clefts. The authors undertook this meta-analysis to assess whether folate supplementation during pregnancy can reduce the risk of nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) in infants. Eligible articles were identified by searching databases, including PubMed, Medline, Scopus, ISI (Web of Knowledge) to September 2017. A meta-analysis was performed to evaluate the effects of maternal supplementation on oral clefts. Odds ratios (ORs) and 95% confidence intervals (CIs) were pooled using Stata software. Publication bias was assessed by the Begg and Egger test. (Registration ID: CRD42018083922) RESULTS:: Out of the 1630 articles found in the authors' initial literature searches, 6 cohort studies, and 31 case-control studies were included in the authors' final meta-analysis. The results of the main analysis revealed that maternal folate supplementation was associated with a modest but statically significant decreased risk of all cleft subtypes (OR = 0.69, 95% CI: 0.60, 0.78). Folic acid intake alone was inversely associated with CL/P (OR = 0.73, 95% CI: 0.62-0.85,) but to a lesser extent than CPO (OR = 0.75, 95% CI = 053-1.04). Multivitamin intake had a significant protective effect for CL/P (OR = 0.65 95% CI = 0.55-0.80) as well as CPO (OR = 0.69, 95% CI = 0.53-0.90). Our results indicate that maternal supplementation in early pregnancy reduces the risk of nonsyndromic CL/P and CPO in infants. These data can serve to reassure women planning a pregnancy to consume multivitamins during the periconception period to protect against oral clefts.

Variation among cleft centres in the use of secondary surgery for children with cleft palate: a retrospective cohort study

PubMed Central

Sitzman, Thomas J; Hossain, Monir; Carle, Adam C; Heaton, Pamela C; Britto, Maria T

2017-01-01

Objectives To test whether cleft centres vary in their use of secondary cleft palate surgery, also known as revision palate surgery, and if so to identify modifiable hospital factors and surgeon factors that are associated with use of secondary surgery. Design Retrospective cohort study. Setting Forty-three paediatric hospitals across the USA. Patients Children with cleft lip and palate who underwent primary cleft palate repair from 1999 to 2013. Main outcome measures Time from primary cleft palate repair to secondary palate surgery. Results We identified 4939 children who underwent primary cleft palate repair. At 10 years after primary palate repair, 44% of children had undergone secondary palate surgery. Significant variation existed among hospitals (p<0.001); the proportion of children undergoing secondary surgery by 10 years ranged from 9% to 77% across hospitals. After adjusting for patient demographics, primary palate repair before 9 months of age was associated with an increased hazard of secondary palate surgery (initial HR 6.74, 95% CI 5.30 to 8.73). Postoperative antibiotics, surgeon procedure volume and hospital procedure volume were not associated with time to secondary surgery (p>0.05). Of the outcome variation attributable to hospitals and surgeons, between-hospital differences accounted for 59% (p<0.001), while between-surgeon differences accounted for 41% (p<0.001). Conclusions Substantial variation in the hazard of secondary palate surgery exists depending on a child’s age at primary palate repair and the hospital and surgeon performing their repair. Performing primary palate repair before 9 months of age substantially increases the hazard of secondary surgery. Further research is needed to identify other factors contributing to variation in palate surgery outcomes among hospitals and surgeons. PMID:29479567

Maxillary segmental distraction in children with unilateral clefts of lip, palate, and alveolus.

PubMed

Zemann, Wolfgang; Pichelmayer, Margit

2011-06-01

Alveolar clefts are commonly closed by a bone grafting procedure. In cases of wide clefts the deficiency of soft tissue in the cleft area may lead to wound dehiscence and loss of the bony graft. Segmental maxillary bony transfer has been mentioned to be useful in such cases. Standard distraction devices allow unidirectional movement of the transported segment. Ideally the distraction should strictly follow the dental arch. The aim of this study was to analyze distraction devices that were adapted to the individual clinical situation of the patients. The goal was to achieve a distraction strictly parallel to the dental arch. Six children with unilateral clefts of lip, palate, and alveolus between 12 and 13 years of age were included in the study. The width of the cleft was between 7 and 19 mm. Dental cast models were used to manufacture individual distraction devices that should allow a segmental bony transport strictly parallel to the dental arch. Segmental osteotomy was performed under general anesthesia. Distraction was started 5 days after surgery. All distracters were tooth fixed but supported by palatal inserted orthodontic miniscrews. In all patients, a closure of the alveolar cleft was achieved. Two patients required additional bone grafting after the distraction procedure. The distraction was strictly parallel to the dental arch in all cases. In 1 case a slight cranial displacement of the transported maxillary segment could be noticed, leading to minor modifications of the following distractors. Distraction osteogenesis is a proper method to close wide alveolar clefts. Linear segmental transport is required in the posterior part of the dental arch, whereas in the frontal part the bony transport should run strictly parallel to the dental arch. An exact guided segmental transport may reduce the postoperative orthodontic complexity. Copyright © 2011 Mosby, Inc. All rights reserved.

Spontaneous cleft palate in a newborn gorilla (Gorilla gorilla gorilla).

PubMed

Siebert, J R; Williams, B; Collins, D; Winkler, L A; Swindler, D R

1998-09-01

We report the first case of cleft palate in a newborn male gorilla (Gorilla gorilla gorilla). The full-term infant was born to clinically healthy, wild-caught parents and survived 5 days. Autopsy disclosed a unilateral cleft palate, moderate scalp hemorrhage (birth versus postnatal trauma), cerebral edema, and a sterile fibrin vegetation in the heart. The palate was also shorter and narrower than expected, and the biorbital breadth was reduced; otherwise, growth and development appeared normal. Standard cranial and intraoral radiographs and three-dimensional reconstructions of computerized tomographic (CT) scans provided thorough and noninvasive methods of studying the craniofacial complex and extracranial skeleton. By this technique, major findings were: intact premaxilla, interpremaxillary, and premaxillary/maxillary sutures; intramaxillary cleft with ipsilateral choanal atresia; mildly asymmetric inferior turbinates; and normal nasal septum and vomer. Except for choanal atresia, cleft palate was not associated with other major craniofacial or extracranial anomalies in this case. Choanal atresia has been observed at times with cleft palate, but to our knowledge, the association has not been reported in nonhuman primates. Cleft palate, with or without cleft lip, has been recognized in a variety of nonhuman primates, including the lemur, marmoset, tamarin, squirrel monkey, and macaque. Some occurrences are spontaneous, while others are syndromic and/or arise from genetic or teratogenic influences. Each mode of presentation is poorly understood in nonhuman primates, but in this case, the absence of relevant environmental or parental history suggests that the occurrence was spontaneous. Anatomic studies of nonhuman primates are particularly valuable when they involve endangered species and will hopefully increase our understanding of the pathogenesis and etiology of congenital disorders, as well as other relationships between nonhuman primates and humans.

Speech and phonology in Swedish-speaking 3-year-olds with unilateral complete cleft lip and palate following different methods for primary palatal surgery.

PubMed

Klintö, Kristina; Svensson, Henry; Elander, Anna; Lohmander, Anette

2014-05-01

Objective : To describe and compare speech and phonology at age 3 years in children born with unilateral complete cleft lip and palate treated with three different methods for primary palatal surgery. Design : Prospective study. Setting : Primary care university hospitals. Participants : Twenty-eight Swedish-speaking children born with nonsyndromic unilateral complete cleft lip and palate. Interventions : Three methods for primary palatal surgery: two-stage closure with soft palate closure between 3.4 and 6.4 months and hard palate closure at mean age 12.3 months (n = 9) or 36.2 months (n = 9) or one-stage closure at mean age 13.6 months (n = 10). Main Outcome Measures : Based on independent judgments performed by two speech-language pathologists from standardized video recordings: percent correct consonants adjusted for age, percent active cleft speech characteristics, total number of phonological processes, number of different phonological processes, hypernasality, and audible nasal air leakage. The hard palate was unrepaired in nine of the children treated with two-stage closure. Results : The group treated with one-stage closure showed significantly better results than the group with an unoperated hard palate regarding percent active cleft speech characteristics and total number of phonological processes. Conclusions : Early primary palatal surgery in one or two stages did not result in any significant differences in speech production at age 3 years. However, children with an unoperated hard palate had significantly poorer speech and phonology than peers who had been treated with one-stage palatal closure at about 13 months of age.

Risk and Protective Factors at Age 16: Psychological Adjustment in Children With a Cleft Lip and/or Palate.

PubMed

Feragen, Kristin Billaud; Stock, Nicola Marie; Kvalem, Ingela Lundin

2015-09-01

Explore psychological functioning in adolescents with a cleft at age 16 from a broad perspective, including cognitive, emotional, behavioral, appearance-related, and psychosocial adjustment. High-risk groups were identified within each area of adjustment to investigate whether vulnerable adolescents were found across domains or whether risk was limited to specific areas of adjustment. Cross-sectional data based on psychological assessments at age 16 (N = 857). The effect of gender, cleft visibility, and the presence of an additional condition were investigated on all outcome variables. Results were compared with large national samples. Hopkins Symptom Checklist, Harter Self-Perception Scale for Adolescents, Child Experience Questionnaire, and Satisfaction With Appearance scale. The main factor influencing psychological adjustment across domains was gender, with girls in general reporting more psychological problems, as seen in reference groups. The presence of an additional condition also negatively affected some of the measures. No support was found for cleft visibility as a risk factor except for dissatisfaction with appearance. Correlation analyses of risk groups seem to point to an association between social and emotional risk and between social risk and dissatisfaction with appearance. Associations between other domains were found to be weak. The results point to areas of both risk and strength in adolescents born with a cleft lip and/or palate. Future research should investigate how protective factors could counteract potential risk in adolescents with a cleft.

Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium.

PubMed

Basart, Hanneke; Kruisinga, Frea H; Breugem, Corstiaan C; Don Griot, J Peter W; Hennekam, Raoul C; Van der Horst, Chantal M A M

2015-01-01

Robin Sequence (RS) is characterized by micrognathia and upper airway obstruction (UAO), with or without cleft palate, causing respiratory and feeding problems. Management options are: positioning; nasopharyngeal airway (NPA); tongue-lip adhesion (TLA); mandibular distraction (MDO); and tracheostomy. Controversy exists in literature regarding RS definition and management. Here we describe definitions, management strategies and criteria in opting for management strategies, used by Dutch and Belgian cleft teams. A specifically designed questionnaire was sent to members of all 16 Dutch and Belgian cleft teams. 14 cleft teams returned 35 questionnaires. All used micrognathia as definition criterion, 93.4% cleft palate, 51.5%glossoptosis and 45.7% UAO. Six different RS definitions were used; even within a single team >1 definition was used. All teams used different management strategies: all used positioning, 10 NPA, 6 TLA, 7 MDO, 8 tracheostomy, 5 refer patients with invasive treatment indication. Criteria in opting management modalities were: O2-saturation (89.3%), clinical presentation (86.2%), growth and feeding problems (69.0%), polysomnography (62.1%), and differed within teams. The Dutch and Belgian cleft teams use variable RS definitions, different management modalities and criteria in choosing management strategies. A single, strict definition and evidence-based management guidelines should be formulated for optimal patient care. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Cross-cultural French adaptation and validation of the Impact On Family Scale (IOFS).

PubMed

Boudas, Raphaël; Jégu, Jérémie; Grollemund, Bruno; Quentel, Elvire; Danion-Grilliat, Anne; Velten, Michel

2013-04-23

The IOFS (Impact On Family Scale) questionnaire is a useful instrument to assess the impact of chronic childhood conditions on general family quality of life. As this instrument was not validated in French, we proposed to translate, adapt and validate the IOFS questionnaire for clinical and research use in French-speaking populations. The sample studied comprised French-speaking parents with a child presenting a cleft lip or cleft lip and palate, aged 6 to 12 years and treated in the University Hospital of Strasbourg, France. The 15-item version of the IOFS was translated into French and then sent to the parents by post. The structure of the measure was studied using Exploratory Factor Analysis (EFA), internal consistency was assessed using Cronbach's alpha coefficient and test-retest reliability was studied by calculating the Intraclass Correlation Coefficient (ICC). The French version of the IOFS questionnaire exhibited very good psychometric properties. For practitioners, this instrument will facilitate the assessment of the impact of chronic childhood conditions on quality of life among French-speaking families.

EXPERIMENTAL MODELS FOR THE STUDY OF ORAL CLEFTS

EPA Science Inventory

Toxicology and teratology studies routinely utilize animal models to determine the potential for chemical and physical agents to produce reproductive and developmental toxicity, including birth defects such as cleft palate. The standardized teratology screen typically tests co...

Lifestyle, pregnancy and epigenetic effects.

PubMed

Barua, Subit; Junaid, Mohammed A

2015-01-01

Rapidly growing evidences link maternal lifestyle and prenatal factors with serious health consequences and diseases later in life. Extensive epidemiological studies have identified a number of factors such as diet, stress, gestational diabetes, exposure to tobacco and alcohol during gestation as influencing normal fetal development. In light of recent discoveries, epigenetic mechanisms such as alteration of DNA methylation, chromatin modifications and modulation of gene expression during gestation are believed to possibly account for various types of plasticity such as neural tube defects, autism spectrum disorder, congenital heart defects, oral clefts, allergies and cancer. The purpose of this article is to review a number of published studies to fill the gap in our understanding of how maternal lifestyle and intrauterine environment influence molecular modifications in the offspring, with an emphasis on epigenetic alterations. To support these associations, we highlighted laboratory studies of rodents and epidemiological studies of human based on sampling population cohorts.

Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 5: institutional outcomes assessment and the role of the Laboratory of Physiology.

PubMed

Freitas, José Alberto de Souza; Trindade-Suedam, Ivy Kiemle; Garib, Daniela Gamba; Neves, Lucimara Teixeira das; Almeida, Ana Lúcia Pompéia Fraga de; Yaedú, Renato Yassukata Faria; Oliveira, Thaís Marchini; Soares, Simone; Lauris, Rita de Cássia Moura Carvalho; Yamashita, Renata Paciello; Trindade, Alceu Sergio; Trindade, Inge Elly Kiemle; Pinto, João Henrique Nogueira

2013-01-01

The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology.

Incidence of Speech-Correcting Surgery in Children With Isolated Cleft Palate.

PubMed

Gustafsson, Charlotta; Heliövaara, Arja; Leikola, Junnu; Rautio, Jorma

2018-01-01

Speech-correcting surgeries (pharyngoplasty) are performed to correct velopharyngeal insufficiency (VPI). This study aimed to analyze the need for speech-correcting surgery in children with isolated cleft palate (ICP) and to determine differences among cleft extent, gender, and primary technique used. In addition, we assessed the timing and number of secondary procedures performed and the incidence of operated fistulas. Retrospective medical chart review study from hospital archives and electronic records. These comprised the 423 consecutive nonsyndromic children (157 males and 266 females) with ICP treated at the Cleft Palate and Craniofacial Center of Helsinki University Hospital during 1990 to 2016. The total incidence of VPI surgery was 33.3% and the fistula repair rate, 7.8%. Children with cleft of both the hard and soft palate (n = 300) had a VPI secondary surgery rate of 37.3% (fistula repair rate 10.7%), whereas children with only cleft of the soft palate (n = 123) had a corresponding rate of 23.6% (fistula repair rate 0.8%). Gender and primary palatoplasty technique were not considered significant factors in need for VPI surgery. The majority of VPI surgeries were performed before school age. One fifth of patients receiving speech-correcting surgery had more than one subsequent procedure. The need for speech-correcting surgery and fistula repair was related to the severity of the cleft. Although the majority of the corrective surgeries were done before the age of 7 years, a considerable number were performed at a later stage, necessitating long-term observation.

Dental Care for a Child with Cleft Lip and Palate

MedlinePlus

... Volunteer Efforts Dental Care for a Child with Cleft Lip and Palate skip to submenu What We Do Cleft & Craniofacial ... version of this factsheet, click here How does cleft lip/palate affect the teeth? A cleft of the lip, ...

Dentofacial self-perception and social perception of adults with unilateral cleft lip and palate.

PubMed

Meyer-Marcotty, Philipp; Stellzig-Eisenhauer, Angelika

2009-05-01

The aim of this study was to investigate the influence of facial asymmetry on how an adult population with unilateral cleft lip and palate (CLP) perceived themselves and were perceived by others. 3D facial data of 30 adult patients with cleft lip and palate (CLP) was scanned and standardized extra- and intraoral photographs were taken. The measured degree of 3D asymmetry was computed for the entire face, midface and lower face. Subjective estimates regarding facial symmetry, attractiveness as well as satisfaction and a desire or indication for further treatment were surveyed by means of a questionnaire filled out by patients and an assessment group (10 orthodontists, 10 oral and maxillofacial (OM) surgeons, 15 laypersons). The study's results show that the largest degree of asymmetry was found in the midface of CLP patients. The vast majority of the patients were dissatisfied with their facial appearance, and patients, experts and laypersons expressed great interest in and a need of correction. We observed tangible incongruence between how the patients perceived their own faces and how others perceived them. Asymmetry, especially in the midface, appears to detract from how facial appearance is self-perceived and perceived by others, which explains the primary desire for or need of nose correction. The self-perception of patients affected by CLP does not correlate with objective results or how others perceive them. Clinicians should be open to adult patients' requests for correction, but the patient's self-perception should also be critically explored.

Application of the Health Belief Model in a study on parents' intentions to utilize prenatal diagnosis of cleft lip and/or palate.

PubMed

Sagi, M; Shiloh, S; Cohen, T

1992-10-01

Parents of children with cleft lip and/or palate (42 women and 35 men) participated in a study on intentions to use prenatal diagnosis of cleft by ultrasound in subsequent pregnancies. Based on the Health Belief Model (HBM) [Rosenstock, 1974], parents' cognitions on 4 factors were measured by questionnaires: "susceptibility" and "severity perceptions," "benefits" and "barriers" evaluations. Most parents perceived the defect as severe. Over-estimation of recurrence risks was predominant even among parents who had received genetic counseling. Results showed that most parents intend to utilize prenatal diagnosis but do not intend to abort an affected fetus. Subjects' reported reasons represented 3 thematic categories: cognitive (the need to know), emotional, and behavioral. Parents' intentions to diagnose and to terminate were related to the factors predicted by the HBM model. Regression analyses indicated that 38% of the variance in intentions to diagnose and 56% of the variance in intentions to terminate could be explained by the studied variables. The best predictor of both intentions was the perceived benefits of the diagnosis. Implications of these findings for genetic counseling are discussed.

Morphological evaluation of clefts of the lip, palate, or both in dogs.

PubMed

Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

2017-08-01

OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

Le Fort I Maxillary Advancement Using Distraction Osteogenesis

PubMed Central

Combs, Patrick D.; Harshbarger, Raymond J.

2014-01-01

Treatment of maxillary hypoplasia has traditionally involved conventional Le Fort I osteotomies and advancement. Advancements of greater than 10 mm risk significant relapse. This risk is greater in the cleft lip and palate population, whose anatomy and soft tissue scarring from prior procedures contributes to instability of conventional maxillary advancement. Le Fort I advancement with distraction osteogenesis has emerged as viable, stable treatment modality correction of severe maxillary hypoplasia in cleft, syndromic, and noncleft patients. In this article, the authors provide a review of current data and recommendations concerning Le Fort I advancement with distraction osteogenesis. In addition, they outline their technique for treating severe maxillary hypoplasia with distraction osteogenesis using internal devices. PMID:25383054

Alternatives to Autologous Bone Graft in Alveolar Cleft Reconstruction: The State of Alveolar Tissue Engineering.

PubMed

Liang, Fan; Leland, Hyuma; Jedrzejewski, Breanna; Auslander, Allyn; Maniskas, Seija; Swanson, Jordan; Urata, Mark; Hammoudeh, Jeffrey; Magee, William

2018-05-01

Alveolar cleft reconstruction has historically relied on autologous iliac crest bone grafting (ICBG), but donor site morbidity, pain, and prolonged hospitalization have prompted the search for bone graft substitutes. The authors evaluated bone graft substitutes with the highest levels of evidence, and highlight the products that show promise in alveolar cleft repair and in maxillary augmentation. This comprehensive review guides the craniofacial surgeon toward safe and informed utilization of biomaterials in the alveolar cleft.A literature search was performed to identify in vitro human studies that fulfilled the following criteria: Level I or Level II of evidence, ≥30 subjects, and a direct comparison between a autologous bone graft and a bone graft substitute. A second literature search was performed that captured all studies, regardless of level of evidence, which evaluated bone graft substitutes for alveolar cleft repair or alveolar augmentation for dental implants. Adverse events for each of these products were tabulated as well.Sixteen studies featuring 6 bone graft substitutes: hydroxyapatite, demineralized bone matrix (DBM), β-tricalcium phosphate (TCP), calcium phosphate, recombinant human bone morphogenic protein-2 (rhBMP-2), and rhBMP7 fit the inclusion criteria for the first search. Through our second search, the authors found that DBM, TCP, rhBMP-2, and rhBMP7 have been studied most extensively in the alveolar cleft literature, though frequently in studies using less rigorous methodology (Level III evidence or below). rhBMP-2 was the best studied and showed comparable efficacy to ICBG in terms of volume of bone regeneration, bone density, and capacity to accommodate tooth eruption within the graft site. Pricing for products ranged from $290 to $3110 per 5 mL.The balance between innovation and safety is a complex process requiring constant vigilance and evaluation. Here, the authors profile several bone graft substitutes that demonstrate the most promise in alveolar cleft reconstruction.

[Suture simulator - Cleft palate surgery].

PubMed

Devinck, F; Riot, S; Qassemyar, A; Belkhou, A; Wolber, A; Martinot Duquennoy, V; Guerreschi, P

2017-04-01

Cleft palate requires surgery in the first years of life, furthermore repairing anatomically the soft and hard palate is complex on a surgical level because of the fine tissues and the local intraoral configuration. It is valuable to train first on simulators before going to the operating room. However, there is no material dedicated to learning how to perform intraoral sutures in cleft palate surgery. We made one, in an artisanal manner, in order to practice before the real surgical gesture. The simulator was designed based on precise anatomical data. A steel pipe, fixed on a rigid base represented the oral cavity. An adapted split spoon represented the palate. All pieces could be removed in order to apply a hydrocellular dressing before training for sutures. Our simulator was tested by 3 senior surgeons in our department in close to real-life conditions in order to evaluate its anatomical accuracy. It is valuable to have a simulator to train on cleft palate sutures within teaching university hospitals that manage this pathology. Our simulator has a very low cost, it is easy to make and is anatomically accurate. Copyright © 2016 Elsevier Masson SAS. All rights reserved.