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Sample records for non-syndromic cleft lip

  1. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    SciTech Connect

    Wyszynski, D.F. |; Lewanda, A.F. |; Beaty, T.H.

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  2. 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.

  3. Non-syndromic cleft lip and palate: could stress be a causal factor?

    PubMed

    Wallace, Graeme H; Arellano, Jacinta M; Gruner, Tini M

    2011-03-01

    The aetiology of non-syndromic cleft lip and palate has as yet not been clearly defined. Familial relationships, environmental toxins and nutritional status have all been considered without conclusive results, although in some studies a potential link between non-syndromic cleft lip and palate and any one or more of these factors has been proposed. Elevated stress, particularly an extended term of traumatic stress, can lead to oxidative damage at the cellular level via hypothalamus-pituitary-adrenal (HPA) axis dysregulation, high cortisol and cytokine production. The effect of this hormonal shift is to re-direct the blood supply to the mother's muscles, thereby reducing the supply to the placenta, causing a potential nutritional deficiency which may then result in a genetic alteration in the foetus. Mothers with a child aged two years or younger who had been born with a cleft, who were members of CleftPals, a family support group, volunteered to be participants in this qualitative study. The research first called for a survey to be completed by the mother and this was then followed by an interview conducted by the researcher. The study involved families living in the three eastern States of Australia. The results suggest that physical and/or emotional stress may well be implicated in clefting. While little work has been done in considering stress as a causal factor, the existing literature suggests, as does this study, that elevated stress levels at, or soon after, conception appear to affect foetal development.

  4. [Association between non-syndromic cleft lip with or without cleft palate and environmental factors in Ningxia].

    PubMed

    Lili, Yu; Jian, Ma; Junpeng, Gao; Kun, Zhai; Jinfang, Zhu; Yongqing, Huang

    2017-06-01

    To investigate the association between non-syndromic cleft lip with or without cleft palate (NSCL/P) and environmental factors in Ningxia population. This case-control study involved 453 NSCL/P patients and 452 normal newborns from Ningxia. A questionnaire focusing on various factors, including family history, pregnancy reaction, drug use during pregnancy, and infections, was used and responses were analyzed through Chi-square test and Logistic regression analysis with SPSS 16.0. The constituent ratio of different types of NSCL/P was cleft lip∶cleft lip and palate∶cleft palate equal to 1︰2.02︰1.51. Logistic regression analysis revealed that abnormal pregnancy, infection, abortion, drugs, drinking, smoking, and living near factories likely increased the risk of NSCL/P (P<0.05). Single fetus, pregnancy-related nausea, vomiting, parents' moderate tastes, and eating soy foods and fruits decreased the risk of NSCL/P (P<0.05). The incidence of NSCL/P should be reduced to enhance the conditions of women during pregnancy by maintaining a balanced diet and avoiding infections, abortion, drugs, and negative habits. 
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  5. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

    PubMed Central

    Jezewski, P; Vieira, A; Nishimura, C; Ludwig, B; Johnson, M; O'Brien, S; Daack-Hirsch, S; Schultz, R; Weber, A; Nepomucena, B; Romitti, P; Christensen, K; Orioli, I; Castilla, E; Machida, J; Natsume, N; Murray, J

    2003-01-01

    MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population based scan for mutations encompassing the sense and antisense transcribed sequence of MSX1 (two exons, one intron). We compare the completed genomic sequence of MSX1 to the mouse Msx1 sequence to identify non-coding homology regions, and sequence highly conserved elements. The samples studied were drawn from a panethnic collection including people of European, Asian, and native South American ancestry. The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. These included missense mutations in conserved amino acids and point mutations in conserved regions not identified in any of 500 controls sequenced. Five different missense mutations in seven unrelated subjects with clefting are described. Evolutionary sequence comparisons of all known Msx1 orthologues placed the amino acid substitutions in context. Four rare mutations were found in non-coding regions that are highly conserved and disrupt probable regulatory regions. In addition, a panel of 18 population specific polymorphic variants were identified that will be useful in future haplotype analyses of MSX1. MSX1 mutations are found in 2% of cases of clefting and should be considered for genetic counselling implications, particularly in those families in which autosomal dominant inheritance patterns or dental anomalies appear to be cosegregating with the clefting phenotype. PMID:12807959

  6. Family history and socioeconomic risk factors for non-syndromic cleft lip and palate: a matched case-control study in a less developed country.

    PubMed

    Acuña-González, Gladys; Medina-Solís, Carlo E; Maupomé, Gerardo; Escoffie-Ramírez, Mauricio; Hernández-Romano, Jesús; Márquez-Corona, María de L; Islas-Márquez, Arturo J; Villalobos-Rodelo, Juan J

    2011-01-01

    From an epidemiological point of view, non-syndromic orofacial clefts are the most common oral congenital deformities worldwide. Family histories were traced and socioeconomic risk factors were identified for non-syndromic cleft lip with or without cleft palate. A case-control study was carried out with 208 cases of non-syndromic cleft lip with or without cleft palate, and matched by age and sex with 416 controls. Cases were patients attending a referral clinic from 2002 through 2004 in Campeche, Mexico. A questionnaire was administered to collect sociodemographic and socioeconomic variables as well as familial background relevant to non-syndromic cleft lip with or without cleft palate. Conditional logistic regression models were used; adjusted odds ratios and 95% confidence intervals were calculated. In the multivariate model, the following risk factors were identified: 1) low socioeconomic status; 2) birth in the southern region of Campeche state; 3) home delivery or delivery in a publicly funded hospital; 4) occurrence of prior non-syndromic cleft lip with or without cleft palate cases in the father's or mother's family: 5) having a sibling with non-syndromic cleft lip with or without cleft palate; 6) the proband having another malformation, and 7) a history of infections during pregnancy. Prenatal care consisting of vitamin supplementation was a protective factor for non-syndromic cleft lip with or without cleft palate (odds ratio=0.29). A "social gradient in health" was seen to link oral malformation with diet components, and several socioeconomic and socio-demographic factors broadly encompassed in low socioeconomic status. Further characterization of risk factors will guide the assemblage of a pro-active counseling and prevention program for families at risk for non-syndromic cleft lip and cleft palate.

  7. Contribution of 6p24 to Non-syndromic Cleft Lip and Palate in a Malay Population

    PubMed Central

    Salahshourifar, I.; Halim, A.S.; Sulaiman, W.A.W.; Zilfalil, B.A.

    2011-01-01

    Non-syndromic cleft lip, with or without cleft palate, is a heterogeneous, complex disease with a high incidence in the Asian population. Several association studies have been done on cleft candidate genes, but no reports have been published thus far on the Orofacial Cleft 1 (OFC1) genomic region in an Asian population. This study investigated the association between the OFC1 genomic region and non-syndromic cleft lip with or without cleft palate in 90 Malay father–mother–offspring trios. Results showed a preferential over-transmission of a 101-bp allele of marker D6S470 in the allele- and haplotype-based transmission disequilibrium test (TDT), as well as an excess of maternal transmission. However, no significant p-value was found for a maternal genotype effect in a log-linear model, although single and double doses of the 101-bp allele showed a slightly increased cleft risk (RR = 1.37, 95% CI, 0.527-3.4, p-value = 0.516). Carrying two copies of the 101-bp allele was significantly associated with an increased cleft risk (RR = 2.53, 95% CI, 1.06-6.12, p-value = 0.035). In conclusion, we report evidence of the contribution of the OFC1 genomic region to the etiology of clefts in a Malay population. PMID:21297019

  8. Factors Responsible for Unfavorable Dental Arch Relationship in non Syndromic Unilateral Cleft Lip and Palate Children.

    PubMed

    Haque, Sanjida; Alam, Mohammad Khursheed; Khamis, Mohd Fadhli

    Multiple factors are whispered to be crucial cause of unfavourable dental arch relationship in cleft lip and palate (CLP).This study aims to evaluate the dental arch relationship of Bangladeshi children with non syndromic unilateral cleft lip and palate (UCLP) following cheiloplasty and palatoplasty. Also to explore the various congenital (UCLP type, UCLP side, family history of cleft, family history of class III) and environmental (cheiloplasty, palatoplasty) factors that affects dental arch relationship of UCLP patients. This was a retrospective study where 84 dental models were taken before orthodontic treatment and alveolar bone grafting. The mean age was 7.69± 2.46 (mean± SD). The dental arch relationship was assessed by GOSLON (Great Ormond Street, London and Oslo) Yardstick. According to GOSLON Yardstick, five categories are rated; named- 1: excellent; 2: good; 3: fair; 4: poor; 5: very poor. Also the groups have been dichotomized into favorable (category ratings 1-3) and unfavorable (category ratings 4 and 5) groups. Kappa statistics was used to evaluate the intra- and inter-examiner agreements and logistic regression analysis was used to explore the responsible factors that affect dental arch relationship. Total 37 subjects (44% of all subjects) were categorized into unfavourable group (category rating 4 and 5) using GOSLON yardstick. Intra- and inter-examiner agreements were very good. The mean GOSLON score was 3.238. Using crude and stepwise backward regression analysis, significant association was found between family history of skeletal class III malocclusion (p = 0.015 and p = 0.014 respectively) and unfavourable dental arch relationship. Complete UCLP (p = 0.054) and left sided UCLP (p = 0.053) also seemed to be correlated but not significant with unfavourable dental arch relationship using crude and stepwise backward regression analysis respectively. This analysis suggested that family history of skeletal class III was significantly correlated

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

    SciTech Connect

    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 found 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.

  10. Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate.

    PubMed

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-01-01

    Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated with cleft disorders, further research

  11. Susceptibility to DNA Damage as a Molecular Mechanism for Non-Syndromic Cleft Lip and Palate

    PubMed Central

    Sunaga, Daniele Yumi; Francis-West, Philippa; Kuta, Anna; Almada, Bruno Vinícius Pimenta; Ferreira, Simone Gomes; de Andrade-Lima, Leonardo Carmo; Bueno, Daniela Franco; Raposo-Amaral, Cássio Eduardo; Menck, Carlos Frederico; Passos-Bueno, Maria Rita

    2013-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10−2–5.02×10−9). This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease. PMID:23776525

  12. Dental Anomalies and Facial Profile Abnormality of the Non-Syndromic Cleft Lip and Palate Children in Kelantan

    PubMed Central

    Abd. Rahman, Normastura; Abdullah, Nizam; Samsudin, Abdul Rani; Naing @ Mohd Ayub Sadiq, Lin

    2004-01-01

    This study was done to determine the prevalence of dental anomalies and facial profile abnormality and its association with the non-syndromic cleft lip and palate (CLP) as compared to the non-cleft children. A comparative cross sectional study was conducted where the case group consist of 98 non-syndromic CLP children-unilateral (UCLP) and bilateral (BCLP) who attended the Combined Clinic at Kota Bharu Dental Clinic (KBDC) while the comparison group comprised of 109 non-cleft children who attended the outpatient clinic at KBDC. Their ages were between 3 to 12 years old. Clinical oral and facial profile examinations were carried out to look for dental anomalies (morphology, number and alignment of teeth) and facial profile abnormality. The prevalence of anomalies in morphology of teeth in CLP (24.5%) and non-cleft (10.1%), number of teeth in CLP (44.9%) and non-cleft (7.3%), mal-alignment in CLP (79.6%) and non-cleft (27.5%) and facial profile abnormality in CLP (26.5%) and non-cleft (9.1 %). There was a significant association between CLP and anomalies in morphology, number, mal-alignment and abnormality in facial profile; (p < 0.05). Therefore, there was a high prevalence and risk of dental anomalies and facial profile abnormality in the CLP children compared to the non-cleft children. PMID:22973126

  13. Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate.

    PubMed

    Mostowska, Adrianna; Gaczkowska, Agnieszka; Żukowski, Kacper; Ludwig, Kerstin U; Hozyasz, Kamil K; Wójcicki, Piotr; Mangold, Elizabeth; Böhmer, Anne C; Heilmann-Heimbach, Stefanie; Knapp, Michael; Zadurska, Małgorzata; Biedziak, Barbara; Budner, Margareta; Lasota, Agnieszka; Daktera-Micker, Agata; Jagodziński, Paweł P

    2017-09-19

    Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common craniofacial anomaly with a complex and heterogeneous etiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within the DLG1 locus at chromosome 3q29, which was identified as a novel cleft-susceptibility locus in our genome-wide association study (GWAS). Mega-analysis of the pooled individual data from the GWAS and replication study confirmed that common DLG1 variants are associated with the risk of nsCL/P. Two SNPs, rs338217 and rs7649443, were statistically significant even at the genome-wide level (ptrend  = 9.70E-10 and ptrend  = 8.96E-09, respectively). Three other SNPs, rs9826379, rs6805920 and rs6583202, reached a suggestive genome-wide significance threshold (ptrend  < 1.00E-05). The location of the strongest individual SNP in the intronic sequence of the gene encoding DLG1 antisense RNA suggests that the true causal variant implicated in the risk of nsCL/P may affect the DLG1 gene expression level rather than structure of the encoded protein. In conclusion, we identified a novel cleft-susceptibility locus at chromosome 3q29 with a DLG1 as a novel candidate gene for this common craniofacial anomaly. This article is protected by copyright. All rights reserved.

  14. Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate

    PubMed Central

    Aspinall, Andrea; Raj, Supriya; Jugessur, Anil; Marazita, Mary; Savarirayan, Ravi; Kilpatrick, Nicky

    2014-01-01

    Background The aetiology of isolated clefts of the lip and/or palate remains obscure. Unaffected family members are treated as if their genetic risks are equivalent and low. Given the number of genes associated with both clefting and dental anomalies, the hypothesis that such anomalies contribute to the cleft phenotype should be explored. Aim To describe the dental characteristics of parents of children with non-syndromic cleft lip ± palate. Design Unaffected parents of Australian children with a cleft of the lip ± palate underwent dental examination including radiographs, photographs, and impressions. Dental anomalies were identified. Results Data were available on 101 parents (49 males, 52 females). Fifty-one participants had at least one dental anomaly. Twelve (11.8%) individuals had congenital absence of teeth, with seven missing multiple teeth. The tooth most commonly missing was the upper right lateral incisor. Five subjects (4.9%) had microdontia (upper lateral incisor most commonly affected). Four subjects (4.0%) had supernumerary teeth. Enamel defects were present in 27 (26.7%) cases with the incisors (46.8%) followed by premolars (24.2%) most affected. Conclusions This study supports previous work suggesting that ‘unaffected’ parents of children with clefts of the lip ± palate may present with dental anomalies. PMID:24237197

  15. The prevalence of various dental characteristics in the primary and mixed dentition in patients born with non-syndromic unilateral cleft lip with or without cleft palate.

    PubMed

    Pegelow, Marie; Alqadi, Nadia; Karsten, Agneta Linder-Aronson

    2012-10-01

    This retrospective study was carried out on consecutively collected dental casts, x-rays, and photos of 129 Swedish children who had been born with non-syndromic unilateral (U) cleft lip (CL), cleft lip and alveolus (CLA), or cleft lip and palate (CLP). The following dental characteristics were investigated in the primary and permanent dentitions: 1. the presence, eruption, position, and shape of the lateral incisor; 2. the prevalence of rotation and enamel hypoplasia of the permanent central incisor; 3. the occurrence of hypodontia outside the cleft region; and 4. the transition from the primary to the succeeding permanent lateral incisor in the cleft region. Patients with clefts involving the palate (UCLP) exhibited a high frequency of hypodontia. In patients with clefts, which did not include the palate, malformed lateral incisors were a common finding. In the primary and permanent dentition, the lateral incisor had erupted distal to the cleft in 31.8 and 24.8 per cent of the UCLA and UCLP patients, respectively. No significant pattern was seen regarding the transition from the primary to the succeeding permanent lateral incisor (P = 0.15). The central incisor was rotated in 55 per cent of the patients and this positional deviation was particularly frequent in cases where the lateral incisor was missing in the premaxilla (P < 0.05). Hypodontia outside the cleft region was recorded in 15.5 per cent of the patients. Patients with UCLP had more often crossbite than patients with a UCL or a UCLA phenotype (P < 0.001).

  16. Possible linkage of non-syndromic cleft lip and palate to the MSX1 homebox gene on chromosome 4p

    SciTech Connect

    Wang, S.; Walczak, C.; Erickson, R.P.

    1994-09-01

    The MSX1 (HOX7) gene has been shown recently to cause cleft palate in a mouse model deficient for its product. Several features of this mouse model make the human homolog of this gene an excellent candidate for non-syndromic cleft palate. We tested this hypothesis by linkage studies in two large multiplex human families using a microsatellite marker in the human MSX1 gene. A LOD score of 1.7 was obtained maximizing at a recombination fraction of 0.09. Computer simulation power calculations using the program SIMLINK indicated that a LOD score this large is expected to occur only about 1/200 times by chance alone for a marker locus with comparable informativeness if unlinked to the disease gene. This suggestive finding is being followed up by attempts to recruit and study additional families and by DNA sequence analyses of the MSX1 gene in these families and other cleft lip and/or cleft palate subjects and these further results will also be reported.

  17. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

    PubMed Central

    Yu, Yanqin; Zuo, Xianbo; He, Miao; Gao, Jinping; Fu, Yuchuan; Qin, Chuanqi; Meng, Liuyan; Wang, Wenjun; Song, Yaling; Cheng, Yong; Zhou, Fusheng; Chen, Gang; Zheng, Xiaodong; Wang, Xinhuan; Liang, Bo; Zhu, Zhengwei; Fu, Xiazhou; Sheng, Yujun; Hao, Jiebing; Liu, Zhongyin; Yan, Hansong; Mangold, Elisabeth; Ruczinski, Ingo; Liu, Jianjun; Marazita, Mary L.; Ludwig, Kerstin U.; Beaty, Terri H.; Zhang, Xuejun; Sun, Liangdan; Bian, Zhuan

    2017-01-01

    Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation. PMID:28232668

  18. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

    PubMed

    Yu, Yanqin; Zuo, Xianbo; He, Miao; Gao, Jinping; Fu, Yuchuan; Qin, Chuanqi; Meng, Liuyan; Wang, Wenjun; Song, Yaling; Cheng, Yong; Zhou, Fusheng; Chen, Gang; Zheng, Xiaodong; Wang, Xinhuan; Liang, Bo; Zhu, Zhengwei; Fu, Xiazhou; Sheng, Yujun; Hao, Jiebing; Liu, Zhongyin; Yan, Hansong; Mangold, Elisabeth; Ruczinski, Ingo; Liu, Jianjun; Marazita, Mary L; Ludwig, Kerstin U; Beaty, Terri H; Zhang, Xuejun; Sun, Liangdan; Bian, Zhuan

    2017-02-24

    Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.

  19. Behavioral assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate.

    PubMed

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2015-03-01

    Peripheral hearing disorders have been frequently described in children with non-syndromic cleft lip and/or palate (NSCL/P). However, auditory processing problems are rarely considered for children with NSCL/P despite their poor academic performance in general compared to their craniofacially normal peers. This study aimed to compare auditory processing skills, using behavioral assessment techniques, in school age children with and without NSCL/P. One hundred and forty one Mandarin-speaking children with NSCL/P aged from 6.00 to 15.67 years, and 60 age-matched, craniofacially normal children, were recruited. Standard hearing health tests were conducted to evaluate peripheral hearing. Behavioral auditory processing assessment included adaptive tests of temporal resolution (ATTR), and the Mandarin pediatric lexical tone and disyllabic-word picture identification test in noise (MAPPID-N). Age effects were found in children with cleft disorder but not in the control group for gap detection thresholds with ATTR narrow band noise in the across-channel stimuli condition, with a significant difference in test performance between the 6 to 8 year group and 12 to 15 year group of children with NSCL/P. For MAPPID-N, the bilateral cleft lip and palate subgroup showed significantly poorer SNR-50% scores than the control group in the condition where speech was spatially separated from noise. Also, the cleft palate participants showed a significantly smaller spatial separation advantage for speech recognition in noise compared to the control group children. ATTR gap detection test results indicated that maturation for temporal resolution abilities was not achieved in children with NSCL/P until approximately 8 years of age compared to approximately 6 years for craniofacially normal children. For speech recognition in noisy environments, poorer abilities to use timing and intensity cues were found in children with cleft palate and children with bilateral cleft lip and palate

  20. A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

    PubMed Central

    2014-01-01

    Background Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de novo deletions defined as DNA segments missing in an oral cleft proband but present in both unaffected parents. We compare de novo deletion frequencies in children of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of European ancestry from randomly sampled trios. Results We identified a genome-wide significant 62 kilo base (kb) non-coding region on chromosome 7p14.1 where de novo deletions occur more frequently among oral cleft cases than controls. We also observed wider de novo deletions among cleft lip and palate (CLP) cases than seen among cleft palate (CP) and cleft lip (CL) cases. Conclusions This study presents a region where de novo deletions appear to be involved in the etiology of oral clefts, although the underlying biological mechanisms are still unknown. Larger de novo deletions are more likely to interfere with normal craniofacial development and may result in more severe clefts. Study protocol and sample DNA source can severely affect estimates of de novo deletion frequencies. Follow-up studies are needed to further validate these findings and to potentially identify additional structural variants underlying oral clefts. PMID:24528994

  1. 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.

  2. Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.

    PubMed

    Alvizi, Lucas; Ke, Xiayi; Brito, Luciano Abreu; Seselgyte, Rimante; Moore, Gudrun E; Stanier, Philip; Passos-Bueno, Maria Rita

    2017-05-26

    Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP. MVPs were enriched in regulatory and active regions of the genome and in pathways already implicated in craniofacial development. In an independent UK cohort (171 NSCLP, 177 controls), we replicated 4 out of 11 tested MVPs. We demonstrated a significant positive correlation between blood and lip tissue DNA methylation, indicating blood as a suitable tissue for NSCLP methylation studies. Next, we quantified CDH1 promoter methylation levels in CDH1 mutation-positive families, including penetrants, non-penetrants or non-carriers for NSCLP. We found methylation levels to be significantly higher in the penetrant individuals. Taken together, our results demonstrated the association of methylation at specific genomic locations as contributing factors to both non-familial and familial NSCLP and altered DNA methylation may be a second hit contributing to penetrance.

  3. Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway.

    PubMed

    Martinelli, Marcella; Girardi, Ambra; Cura, Francesca; Nouri, Nayereh; Pinto, Valentina; Carinci, Francesco; Morselli, Paolo Giovanni; Salehi, Mansoor; Scapoli, Luca

    2016-01-01

    Orofacial clefts (OFCs) are one of the most common birth defects in humans. They are the subject of a number of investigations aimed at elucidating the bases of their complex mode of inheritance involving both genetic and environmental factors. Genes belonging to the folate pathway have been among the most studied. The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P), using three independent samples of different ancestry: from Tibet, Bangladesh and Iran, respectively. Specifically, the polymorphisms rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were tested. A decreased risk of NSCL/P was observed in patients presenting the C677T variant at MTHFR gene (relative risk for heterozygotes=0.53; 95% confidence interval [C.I.]=0.32-0.87). The investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association. Overall, these results indicate that NSCL/P risk factors differ among populations and confirm the importance of testing putative susceptibility variants in different genetic backgrounds. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. Cleft Lip and Cleft Palate

    MedlinePlus

    ... side. There are three primary types of clefts: • Cleft lip/palate refers to the condition when both the palate ... one in 1,000 babies are born with cleft lip/palate. About 50 percent of all clefts More common ...

  5. Cleft lip and palate

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001051.htm Cleft lip and palate To use the sharing features on this page, please enable JavaScript. Cleft lip and palate are birth defects that affect the upper lip ...

  6. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio.

    PubMed

    Moreno, Lina M; Arcos-Burgos, Mauricio; Marazita, Mary L; Krahn, Katherine; Maher, Brion S; Cooper, Margaret E; Valencia-Ramirez, Consuelo R; Lidral, Andrew C

    2004-03-01

    Non-syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births. Evidence from linkage and linkage disequilibrium studies is contradictory suggesting that heterogeneity between study populations may exist. A recent report of a genome widescan in 92 sib pairs from the United Kingdom revealed suggestive linkage to 10 loci [Prescott et al., 2000]. The purpose of this study is to replicate those results and evaluate additional candidate genes in 49 Colombian and 13 Ohio families. Genotypes were obtained for STRPs at 1p36, 2p13 (TGFA), 4p16 (MSX1), 6p23-25, 6q25-27, 8q23-24, 11p12-q13, 12q13, 14q24 (TGFB3), 16q22-24, 17q12-21 (RARA), and Xcen-q21. Linkage was performed using parametric (dominant and recessive models) and non-parametric (GenehunterNPL and SimIBD) analyses. In addition, heterogeneity was analyzed using GenehunterHLOD, and association determined by the TDT. The Colombian families showed significant SimIBD results for 11p12-q13 (P = 0.034), 12q13 (P = 0.015), 16q22-24 (0.01), and 17q12-21 (0.009), while the Ohio families showed significant SimIBD results for 1p36 (P = 0.02), TGFA (P = 0.005), 6p23 (P = 0.004), 11p12-q13 (P = 0.048) and significant NPL results for TGFA (NPL = 3.01, P = 0.009), 4p16 (MNPL = 2.07, P = 0.03) and 12q13 (SNPL = 3.55, P = 0.007). Significant association results were obtained only for the Colombian families in the regions 1p36 (P = 0.046), 6p23-25 (P = 0.020), and 12q13 (P = 0.046). In addition several families yielded LOD scores ranging from 1.09 to 1.73, for loci at 4p16, 6p23-25, 16q22-24, and 17q13. These results confirm previous reports for these loci. However, the differences between the two populations suggest that population specific locus heterogeneity exists. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

  7. Cleft Lip and Palate

    MedlinePlus

    ... all the way to the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a gap or split between two things. A cleft lip is a split in the upper lip. This can happen on one or ... a split in the roof of the mouth. This leaves a hole between the nose and ...

  8. 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.

  9. 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.

  10. Cleft Lip and Cleft Palate

    MedlinePlus

    ... and advocacy priorities National Network of Perinatal Quality Collaboratives Launch Prematurity research centers What is team science? ... how the body develops or how the body works. Cleft lip and cleft palate are common birth ...

  11. Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases.

    PubMed

    Riley, Bridget M; Murray, Jeffrey C

    2007-12-15

    Non-syndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from multiple genetic and environmental factors. We have previously reported the sequencing of the coding region of genes in the fibroblast growth factor (FGF) signaling pathway, in which missense and non-sense mutations contribute to approximately 5%-6% NS CLP cases. In this article we report the sequencing of conserved non-coding elements (CNEs) in and around 11 of the FGF and FGFR genes, which identified 55 novel variants. Seven of variants are highly conserved among >/=8 species and 31 variants alter transcription factor binding sites, 8 of which are important for craniofacial development. Additionally, 15 NS CLP patients had a combination of coding mutations and CNE variants, suggesting that an accumulation of variants in the FGF signaling pathway may contribute to clefting. (c) 2007 Wiley-Liss, Inc.

  12. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

    PubMed Central

    Pengelly, Reuben J.; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G.; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  13. Cleft Lip and Cleft Palate

    MedlinePlus

    ... or cleft palate. A cleft lip is a separation of the two sides of the lip. The separation often includes the bones of the upper jaw ... 5 Comments Miracle Flights Puts Care in the Air 11/20/15 , No Comments Connections to be ...

  14. Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

    SciTech Connect

    Healey, S.C.; Chenevix-Trench, G.; Mitchell, L.E.

    1994-09-01

    Evidence of linkage has been reported for non-syndromic cleft lip with or without cleft palate (CL{+-}P) and two markers (D4S175 and D4S192) in the region 4q25-4q31.3. The linkage evidence comes from a single Caucasian pedigree with multiple cases of CL{+-}P in five generations. High-density pedigrees are, however, atypical of CL{+-}P and linkage evidence obtained from such a family may not be relevant to the majority of CL{+-}P families. We have, therefore, examined the association of CL{+-}P with both D4S175 and D4S192 in 95 unrelated CL{+-}P patients and 161 unselected controls. There was no evidence for an association between D4S175 and CL{+-}P in these data. There was, however, a significant association between D4S192 and CL{+-}P ({chi}{sup 2}{sub 4}=15.5,P=0.006), and the genotypic distribution was significantly heterogeneous between CL{+-}P patients and controls (P=0.025). Comparison of each of the four most common alleles (i.e A87, A89, A91 and A95), to all other alleles combined, indicated that A87 was significantly less common (OR=0.56,95% C.I. 0.34-0.90), and A95 was significantly more common (OR=1.88,95% C.I. 1.03-3.43) among the CL{+-}P patients than the controls. Although of only borderline significance, A89 also appeared to be more common among patients than controls (OR=1.43,95% C.I. 0.99-2.60). Hence, it appears that genetic variation at a CL{+-}P susceptibility locus (CSL) linked to D4S192 may be associated with both increased and decreased risk of CL{+-}P. In combination, A89 and A95 are significantly more common in CL{+-}P patients than in controls (OR=1.80;95% C.I. 1.24-2.60) and account for a risk ratio of 1.08 in the first degree relatives of CL{+-}P patients. These results provide further evidence for the presence of a CSL in the region 4q25-4q31.1, and indicate that the putative CSL is located closer to D4S192 than to D4S175.

  15. Genetic and non-genetic factors that increase the risk of non-syndromic cleft lip and/or palate development.

    PubMed

    Bezerra, J F; Oliveira, G H M; Soares, C D; Cardoso, M L; Ururahy, M A G; Neto, F P F; Lima-Neto, L G; Luchessi, A D; Silbiger, V N; Fajardo, C M; Oliveira, S R de; Almeida, M das G; Hirata, R D C; Rezende, A A de; Hirata, M H

    2015-04-01

    We investigated the relationship between non-syndromic cleft lip/palate (NSCLP) and polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and RFC1, as well as the corresponding interactions with environmental factors. One hundred and forty NSCLP patients and their mothers, as well as 175 control individuals and their mothers, were recruited. Information regarding smoking and alcohol consumption was recorded. Blood samples were obtained in order to measure serum folate and cobalamin, as well as, plasma total homocysteine concentrations and to extract DNA. Polymorphisms in MTHFR(677C>T and 1298A>C), MTR(2756A>G), MTR(66A>G), and RFC1(80A>G) were analyzed by PCR-restriction fragment length polymorphism. Among the patients, 59.5% had cleft lip and palate, 22.0% had cleft palate, and 18.5% had cleft lip only. Maternal alcohol consumption and reduced folic acid concentrations in both children and mothers (P < 0.001 and P = 0.003, respectively) were risk factors for NSCLP. Patients and their mothers carrying the MTHFR 667T allele showed lower serum folate than CC (P = 0.011 and P = 0.030, respectively). Mothers who carried the MTHFR 1298C allele exhibited increased risk of having a child with NSCLP, after adjusting for alcohol consumption (OR: 1.75, 95% CI: 1.03-2.99, P = 0.038). Reduced folic acid levels, alcohol consumption, and the MTHFR 677T and 1298C alleles may have contributed to NSCLP development in this sample population from Rio Grande do Norte. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Cleft Lip and Cleft Palate

    MedlinePlus

    ... If teasing or self-esteem issues arise at school, this can help your child feel safe in talking with you about it. After a baby is born with a cleft, parents are understandably concerned about the possibility of having another child with the same condition. While many cases of cleft lip and ...

  17. Cleft lip and palate.

    PubMed

    Crockett, David J; Goudy, Steven L

    2014-11-01

    Cleft lip with or without cleft palate is the most common congenital malformation of the head and neck. Orofacial clefting could significantly affect the quality of life of the child and requires multiple steps of care to obtain an optimal outcome. Each patient should be evaluated for congenital anomalies, developmental delay, neurologic disorders, and psychosocial concerns. A multidisciplinary team is necessary to ensure that every aspect of the child's care is appropriately treated and coordination between providers is achieved. This article discusses the assessment and treatment recommendations for children born with cleft lip and/or cleft palate. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.

    PubMed

    Martinelli, M; Carinci, F; Morselli, P G; Palmieri, A; Girardi, A; Riberti, C; Scapoli, L

    2011-01-01

    Epidemiological studies have correlated lower maternal periconceptional levels of plasma folate and cobalamin with increased risk of delivering offspring presenting congenital malformations such as cleft lip with or without cleft palate (CL/P) or neural tube defects. A number of genetic studies aimed at correlating these biochemical levels or the occurrence of malformations with specific genetic defects or polymorphisms have been successfully performed. The cubilin gene (CUBN) codes for a carrier that plays a crucial role in cobalamin cell internalization. CUBN polymorphisms were previously found to be associated with spina bifida occurrence. In this work, a family-based association study was performed to test CUBN involvement in CL/P. A sample of 391 CL/P triads was investigated with three single nucleotide polymorphisms mapping on the cubilin gene. Association tests indicated no significant association between CL/P and marker alleles or marker haplotypes. No evidence of maternal effect and imprinting were obtained. These data suggest that CUBN is not involved in CL/P onset in the investigated Italian population.

  19. Cleft lip repair - slideshow

    MedlinePlus

    ... presentations/100010.htm Cleft lip repair - series—Normal anatomy To use the sharing features on this page, ... Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health Page last updated: ...

  20. Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P.

    PubMed

    Marazita, Mary L

    2007-05-01

    Non-syndromic cleft lip with or without cleft palate (CL/P) is a common, complex birth defect with a wide phenotypic spectrum. This review summarizes the evidence that subepithelial (occult) defects of the superior orbicularis oris (OO) muscle represent the mildest form of the lip portion of CL/P. The rate of OO defects was assessed via ultrasound in non-CL/P relatives of individuals with CL/P and compared with controls. Descriptive histology of OO muscles from cadavers was carried out. BMP4 was sequenced in non-CL/P individuals with OO defects vs. controls. 1) Non-CL/P relatives of individuals with overt CL/P have a significantly increased frequency of OO defects compared with controls with no family history of CL/P; 2) Preliminary histological studies of cadaver OO muscles show a pattern of disorganized muscle fibers in an individual with OO discontinuities as seen on ultrasound compared with another individual with no OO defect. That is, the defects seen on ultrasound appear to have an anatomical basis; 3) Sequencing BMP4 found a significant increase in potentially damaging mutations in individuals with OO defects vs. controls. Taken together, these data provide significant support for the hypothesis that subepithelial OO muscle defects are a mild manifestation of the lip portion of the CL/P phenotype. Given that subepithelial OO muscle defects are relatively straightforward to identify via ultrasound, such defects show great promise for providing more accurate recurrence risk estimates to relatives in cleft families. Furthermore, inclusion of OO defects in the CL/P phenotypic spectrum should improve the power of genetic studies.

  1. 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

  2. Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients

    PubMed Central

    Ebadifar, Asghar; Ameli, Nazila; Khorramkhorshid, Hamid Reza; Salehi Zeinabadi4, Mehdi; Kamali, Kourosh; Khoshbakht, Tayyebeh

    2015-01-01

    Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP. Results. The 677T and 1298C homozygote genotypes showed a frequency of 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9%) and 677TT/1298CC genotypes were not observed. Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFR genotype of 677TT shows a greater role in having oral clefts. PMID:26236436

  3. Cleft Lip and Palate Surgery

    MedlinePlus

    ... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery is ... the carefully orchestrated, multiple-stage correctional program for cleft lip and palate patients. The goal is to help restore the ...

  4. TGFbeta isoforms and decorin gene expression are modified in fibroblasts obtained from non-syndromic cleft lip and palate subjects.

    PubMed

    Bodo, M; Baroni, T; Carinci, F; Becchetti, E; Bellucci, C; Pezzetti, F; Conte, C; Evangelisti, R; Carinci, P

    1999-12-01

    Interaction between extracellular matrix (ECM) and cytokines is thought to be crucial for palatal development. The localization of transforming growth factors (TGFalpha and TGFbeta isoforms) in craniofacial tissues suggests that they carry out multiple functions during development. In the present report, we studied TGFalpha, TGFbeta1, and TGFbeta3 expressions and their effects on ECM macromolecule production of normal and cleft palatal fibroblasts in vitro, to investigate the mechanisms by which the phenotypic modulation of fibroblasts occurs during the cleft palate process. The results indicated that, while TGFalpha mRNA was not evidenced in CLP or normal fibroblasts, a reduced TGFbeta1 hybridization signal was detected in CLP fibroblasts. In addition, these secreted more active TGFbeta3 than TGFbeta1, as evaluated in a biological assay. The CLP phenotype, which differed from the normal one because of its higher PG decorin expression and greater production of GAG and collagen, was further modified by the addition of growth factors. In fact, in CLP fibroblasts, TGFalpha and TGFbeta1 down-regulated PG decorin transcript, TGFbeta1 increased collagen and GAG in both cellular and extracellular compartments, and TGFbeta3 promoted secretory processes of cells. In conclusion, the data represent the first report in a human model in vitro that TGFbeta1 and beta3 are differently expressed and are correlated to the CLP phenotype. Thus, strength is given to the hypothesis that TGFbeta isoforms are the potential inducers of phenotypic expression in palatal fibroblasts during development and that an autocrine growth factor production mechanism may be responsible for the phenotypic modifications.

  5. Bilateral cleft lip.

    PubMed

    Mulliken, John B

    2004-04-01

    The surgeon's objectives are normal nasolabial appearance and normal speech. The principles for synchronous repair of bilateral cleft lip have been established, and the techniques continue to evolve. Primary repair impairs maxillary growth, but little can be done at this time except to practice gentle craftsmanship and to minimize tension on the lower labial closure. The cutaneous lip should never be reopened for revision, and the number of secondary procedures involving the nasal cartilages should be kept to a minimum. Many adolescents with repaired bilateral cleft lip need maxillary advancement to improve projection of the nasal tip, to protrude the upper lip, and to attain normal sagittal skeletal harmony. With expected improvements in the technology of distraction osteogenesis, maxillary advancement may someday become as acceptable as orthodontic treatment.

  6. Centre-level variation of treatment and outcome in 5-year-old children with non-syndromic unilateral cleft lip and palate: The Cleft Care UK study. Part 1: Methodology and results for dento-facial outcomes.

    PubMed

    Wills, A K; Mahmoud, O; Hall, A; Sell, D; Smallridge, J; Southby, L; Toms, S; Waylen, A; Wren, Y; Ness, A R; Sandy, J R

    2017-06-01

    Outline methods used to describe centre-level variation in treatment and outcome in children in the Cleft Care UK (CCUK) study. Report centre-level variation in dento-facial outcomes. Two hundred and sixty-eight five-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP). Between January 2011 and December 2012, data were collected on a comprehensive range of outcomes. Child facial appearance and symmetry were assessed using photographic pictures. Dental arch relationships were assessed from standardized dental study models. Hierarchical statistical models were used to predict overall means and the variance partition coefficient (VPC)-a measure of amount of variation in treatment or outcome explained by the centre. Data on dento-alveolar arch relationships and facial appearance were available on 197 and 252 children, respectively. The median age of the children was 5.5 years, and 68% were boys. Variation was described across 13 centres. There was no evidence of centre-level variation in good or poor dento-alveolar arch relationships with a VPC of 4% and 3%, respectively. Similarly, there was no evidence of centre-level variation in good or poor facial appearance with a VPC of 2% and 5%, respectively. There was no evidence of centre-level variation for dento-facial outcomes although this study only had the power to detect large variation between sites. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Cleft Lip and Palate

    MedlinePlus

    ... and Palate? What Do Doctors Do? en español Labio leporino y paladar hendido When Karly talks to her friends, most of them don't know it took years of hard work for her to develop her speech skills. Karly was born with a condition called cleft lip and palate. As a child, she had several ...

  8. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

    PubMed Central

    Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A.; Jain, Deepti; Laurie, Cathy C.; Doheny, Kimberly F.; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R.; Neiswanger, Katherine; Lidral, Andrew C.; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Czeizel, Andrew E.; Field, L. Leigh; Padilla, Carmencita D.; Cutiongco-de la Paz, Eva Maria, C.; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G.; Lie, Rolv T.; Wilcox, Allen; Romitti, Paul A.; Castilla, Eduardo E.; Mereb, Juan C.; Poletta, Fernando A.; Orioli, Iêda M.; Carvalho, Flavia M.; Hecht, Jacqueline T.; Blanton, Susan H.; Buxó, Carmen J.; Butali, Azeez; Mossey, Peter A.; Adeyemo, Wasiu L.; James, Olutayo; Braimah, Ramat O.; Aregbesola, Babatunde S.; Eshete, Mekonen A.; Abate, Fikre; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M.; Moreno, Lina; Murray, Jeffrey C.; Marazita, Mary L.

    2016-01-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case–parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10−8), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10−8). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10−8) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs. PMID:27033726

  9. Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

    PubMed Central

    Marazita, Mary L.; Lidral, Andrew C.; Murray, Jeffrey C.; Field, L.Leigh; Maher, Brion S.; Goldstein McHenry, Toby; Cooper, Margaret E.; Govil, Manika; Daack-Hirsch, Sandra; Riley, Bridget; Jugessur, Astanand; Felix, Temis; Morene, Lina; Mansilla, M.Adela; Vieira, Alexandre R.; Doheny, Kim; Pugh, Elizabeth; Valencia-Ramirez, Consuelo; Arcos-Burgos, Mauricio

    2009-01-01

    Objectives Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. Results Significant (multipoint HLOD ≥3.2) or genome-wide-significant (HLOD ≥4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP. Conclusions These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P. PMID:19521098

  10. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

    PubMed

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Czeizel, Andrew E; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Abate, Fikre; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Murray, Jeffrey C; Marazita, Mary L

    2016-07-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10(-8)), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10(-8)). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10(-8)) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  11. Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.

    PubMed

    Liu, Dongjing; Wang, Hong; Schwender, Holger; Marazita, Mary L; Wang, Zhuqing; Yuan, Yuan; Wang, Ping; Liang, Kung Yee; Wu-Chou, Yah Huei; Wang, Mengying; Shi, Bing; Zhu, Hongping; Wu, Tao; Beaty, Terri H

    2017-06-01

    Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with a complex and heterogeneous etiology. A recent genome-wide association study (GWAS) among Chinese populations has identified a new region at 16p13.3 as being associated with NSCL/P, which requires further replication. Here, we attempted to replicate and further clarify the genetic association between this region and NSCL/P, as well as testing for potential gene-gene (G × G) and gene-environment (G × E) interactions. We conducted transmission disequilibrium tests on 69 single nucleotide polymorphisms (SNPs) mapping to 16p13.3 among 806 Chinese case-parent trios ascertained through an international consortium where a GWAS of oral clefts was conducted. G × G, as well as G × E interactions involving maternal environmental tobacco smoke (ETS) and multivitamin supplementation, were explored using conditional logistic regression model. We applied Cordell's method as implemented in the R package TRIO to test for possible interactions. While no SNPs showed evidence of linkage and association with NSCL/P after Bonferroni correction, we found signals of G × G interactions between SNPs in 16p13.3. Nine pairs of SNP-SNP interactions attained significance after Bonferroni correction, among which the most significant interaction was found between rs2072346 (ADCY9) and rs11646137 (intergenic region, P = 7.2 × 10(-5) ). Linkage disequilibrium (LD) analysis revealed only low level of LD between these SNPs. This study failed to confirm the significant association between SNPs within 16p13.3 and the risk of NSCL/P, but underlined the importance of taking into account potential G × G interactions for the genetic association analysis of NSCL/P. © 2017 Wiley Periodicals, Inc.

  12. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.

    PubMed

    Marazita, Mary L; Lidral, Andrew C; Murray, Jeffrey C; Field, L Leigh; Maher, Brion S; Goldstein McHenry, Toby; Cooper, Margaret E; Govil, Manika; Daack-Hirsch, Sandra; Riley, Bridget; Jugessur, Astanand; Felix, Temis; Morene, Lina; Mansilla, M Adela; Vieira, Alexandre R; Doheny, Kim; Pugh, Elizabeth; Valencia-Ramirez, Consuelo; Arcos-Burgos, Mauricio

    2009-01-01

    Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. Significant (multipoint HLOD >or=3.2) or genome-wide-significant (HLOD >or=4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP. These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P. Copyright 2009 S. Karger AG, Basel.

  13. Genetic variants of 20q12 contributed to non-syndromic orofacial clefts susceptibility.

    PubMed

    Yin, X; Ma, L; Li, Y; Xu, M; Wang, W; Wang, H; Yuan, H; Du, Y; Li, S; Ma, J; Jiang, H; Wang, L; Zhang, W; Pan, Y

    2017-01-01

    Previous genomewide association studies (GWAS) identified a region near MAFB at chr20q12 associated with non-syndromic orofacial clefts (NSOC) susceptibility. However, whether other SNPs in this area could independently contribute to non-syndromic orofacial clefts in Chinese populations remained obscure. We selected 24 SNPs based on a haplotype-tagging SNP strategy and evaluated their associations with risk of non-syndromic orofacial clefts in a large-scale two-stage case-control study with 1278 cases and 1295 controls. Genotyping was performed with Sequenom and TaqMan assay. Associations between the SNPs and risk of non-syndromic orofacial clefts were estimated from unconditional logistic regression analyses. Overall, six SNPs were found to be the susceptible factors of non-syndromic orofacial clefts. The most significant and independent SNP was rs6129653 (additive model of P value = 1.4E-06). In subgroup analysis, its significant associations with cleft lip only (CLO) and cleft lip and palate (CLP) were observed. Furthermore, in silico bioinformatics analysis indicated that rs6129653 was located in the transcriptionally active region and associated with MAFB expression in human brain tissues. Rs6129653 was an independent locus of non-syndromic orofacial clefts among Chinese populations possibly due to its potential of distal transcriptional regulation of MAFB expression. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. 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.

  15. Preliminary evidence of an interaction between the CRISPLD2 gene and non-syndromic cleft lip with or without cleft palate (nsCL/P) in Xinjiang Uyghur population, China.

    PubMed

    Mijiti, Ainiwaer; Ling, Wang; Maimaiti, Abudukelimujiang; Tuerdi, Maimaitituxun; Tuerxun, Julaiti; Moming, Adili

    2015-02-01

    Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common birth defect results from the genetic factors alone or interactions with environmental changes. Single nucleotide polymorphisms (SNPs) of CRISPLD2 gene have been found to be an etiologic factor in the development of nsCL/P. However, few studies to date focused on the association of genetic variation of CRISPLD2 gene with nsCL/P, and the results are conflicting based on the different study population. The main purpose of the present study was to investigate the association between the CRISPLD2 gene and nsCL/P in Xinjiang Uyghur population. Eighteen SNPs were screened in a group of 200 patients with nsCL/P and in a control group consisting of 180 unaffected individuals by next generation sequencing using MiSeq Benchtop Sequencer (Illumina). Our case-control association analysis showed that the SNP marker rs1546124 showed statistically significant differences in genotype (CC vs. CG vs. GG P=0.004) and allele frequencies (49% vs. 37.8% OR=1.58; 95% CI=1.19-2.1, P=0.002) between nsCL/P and controls. Under the recessive model of inheritance, the GG homozygotes had an OR of 2.4 (95% CI=1.37-4.18; P=0.002), and the result of significance was maintained even after multiple testing correction. Haplotype combinations of CACC were significantly more frequent in the nsCL/P patients than in controls (P=0.037). Finally, the MDR analysis identified the two-SNP model including rs1546124 and rs4782675 as best combination of possibly interactive polymorphisms (P<0.001). Our results demonstrate that genetic polymorphism of CRISPLD2 gene is associated with an increased risk of nsCL/P in a Xinjiang Uyghur population. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  16. 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

    SciTech Connect

    Shi, Jinna; Song, Tao; Jiao, Xiaohui; Qin, Chunlin; Zhou, Jin

    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 in 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

  17. Exploratory genotype–phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate

    PubMed Central

    Miller, Steven F; Weinberg, Seth M; Nidey, Nichole L; Defay, David K; Marazita, Mary L; Wehby, George L; Moreno Uribe, Lina M

    2014-01-01

    Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P) who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with distinct facial morphology of unknown genetic etiology. This study investigates distinct facial morphology among unaffected relatives and examines whether candidate genes previously associated with overt NSCL/P and left–right body patterning are correlated with such facial morphology. Cases were unaffected relatives of individuals with NSCL/P (n = 188) and controls (n = 194) were individuals without family history of NSCL/P. Cases and controls were genotyped for 20 SNPs across 13 candidate genes for NSCL/P (PAX7, ABCA4-ARHGAP29, IRF6, MSX1, PITX2, 8q24, FOXE1, TGFB3 and MAFB) and left–right body patterning (LEFTY1, LEFTY2, ISL1 and SNAI1). Facial shape and asymmetry phenotypes were obtained via principal component analyses and Procrustes analysis of variance from 32 coordinate landmarks, digitized on 3D facial images. Case–control comparisons of phenotypes obtained were performed via multivariate regression adjusting for age and gender. Phenotypes that differed significantly (P < 0.05) between cases and controls were regressed on the SNPs one at a time. Cases had significantly (P < 0.05) more profile concavity with upper face retrusion, upturned noses with obtuse nasolabial angles, more protrusive chins, increased lower facial heights, thinner and more retrusive lips and more protrusive foreheads. Furthermore, cases showed significantly more directional asymmetry compared to controls. Several of these phenotypes were significantly associated with genetic variants (P < 0.05). Facial height and width were associated with SNAI1. Midface antero-posterior (AP) projection was associated with LEFTY1. The AP position of the chin was related to SNAI1, IRF6, MSX1 and MAFB. The AP position of the forehead and the width of the mouth were associated with ABCA4–ARHGAP29 and

  18. Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.

    PubMed

    Miller, Steven F; Weinberg, Seth M; Nidey, Nichole L; Defay, David K; Marazita, Mary L; Wehby, George L; Moreno Uribe, Lina M

    2014-06-01

    Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P) who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with distinct facial morphology of unknown genetic etiology. This study investigates distinct facial morphology among unaffected relatives and examines whether candidate genes previously associated with overt NSCL/P and left-right body patterning are correlated with such facial morphology. Cases were unaffected relatives of individuals with NSCL/P (n = 188) and controls (n = 194) were individuals without family history of NSCL/P. Cases and controls were genotyped for 20 SNPs across 13 candidate genes for NSCL/P (PAX7, ABCA4-ARHGAP29, IRF6, MSX1, PITX2, 8q24, FOXE1, TGFB3 and MAFB) and left-right body patterning (LEFTY1, LEFTY2, ISL1 and SNAI1). Facial shape and asymmetry phenotypes were obtained via principal component analyses and Procrustes analysis of variance from 32 coordinate landmarks, digitized on 3D facial images. Case-control comparisons of phenotypes obtained were performed via multivariate regression adjusting for age and gender. Phenotypes that differed significantly (P < 0.05) between cases and controls were regressed on the SNPs one at a time. Cases had significantly (P < 0.05) more profile concavity with upper face retrusion, upturned noses with obtuse nasolabial angles, more protrusive chins, increased lower facial heights, thinner and more retrusive lips and more protrusive foreheads. Furthermore, cases showed significantly more directional asymmetry compared to controls. Several of these phenotypes were significantly associated with genetic variants (P < 0.05). Facial height and width were associated with SNAI1. Midface antero-posterior (AP) projection was associated with LEFTY1. The AP position of the chin was related to SNAI1, IRF6, MSX1 and MAFB. The AP position of the forehead and the width of the mouth were associated with ABCA4-ARHGAP29 and MAFB. Lastly

  19. Treatment outcomes of pre-surgical infant orthopedics in patients with non-syndromic cleft lip and/or palate: A systematic review and meta-analysis of randomized controlled trials

    PubMed Central

    2017-01-01

    Background Non-syndromic clefts lip and/or palate (CL/P) defects may have manifold significant and detrimental consequences for the affected individuals and their family environment. Although the use of pre-surgical infant orthopedics (PSIO) was introduced as a means to improve management and treatment outcomes, there still remains a controversy. Objective To investigate the effectiveness of PSIO in patients with non-syndromic CL/P and evaluate the quality of the available evidence. Search methods Search without restrictions, together with hand searching, until May 2016. Selection criteria Randomized clinical trials investigating the effects of pre-surgical infant orthopedic appliances. Data collection and analysis Following study retrieval and selection, data extraction and individual study risk of bias assessment using the Cochrane Risk of Bias Tool took place. The overall quality of the available evidence was assessed with the Grades of Recommendation, Assessment, Development and Evaluation approach. Results Finally 20 papers (3 unique trials) were identified, involving a total of 118 patients with unilateral complete CL/P and 16 with cleft of the soft and at least two thirds of the hard palate. Eight publications were considered as being of low, four of unclear and eight of high risk of bias. In general, the investigated appliances did not present significant effects when compared to each other or to no treatment in terms of feeding and general body growth, facial esthetics, cephalometric variables, maxillary dentoalveolar variables and dental arch relationships, speech and language evaluation, caregiver-reported outcomes, economic evaluation, as well as, adverse effects and problems. Overall, the quality of the available evidence was considered low. Conclusions The aforementioned findings could provide initial guidance in the clinical setting. However, given the multitude of parameters, which may have affected the results, good practice would suggest further

  20. Association between FOXE1 and non-syndromic orofacial clefts in a northeastern Chinese population.

    PubMed

    Liu, Kun; Lu, Yongping; Ai, Lisi; Jiao, Boqiang; Yu, Jiantao; Zhang, Bin; Liu, Qiang

    2015-10-01

    Non-syndromic orofacial clefts are among the most common congenital defects, and several reports have shown that the FOXE1 gene has strong associations with them. To find out if the gene was a risk factor we used a case-control and family-based analysis, and recruited 230 patients with non-syndromic oral clefts including 179 with non-syndromic cleft lip with or without cleft palate, and 51 with non-syndromic cleft palate alone, their parents (166 mothers and 161 fathers, including 135 complete trios), and 180 healthy controls. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to genotype the 2 most strongly associated markers (rs4460498 and rs3758249) in FOXE1, and case-control and family-based associations were analysed. In the case-control analyses we found a significant association with non-syndromic cleft lip and palate in rs4460498 (p=0.009) and rs3758249 (p=0.014), but no association in patients with cleft palate alone. For rs4460498 in FOXE1, the odds ratio (OR) for cases with CC homozygotes compared with TC+CC genotypes was 1.813 (95% CI 1.176 to 2.796), and for rs3758249 in FOXE1, the OR for cases with GG homozygotes compared with those with AG+AA genotypes was 0.561 (95%CI 0.371 to 0.848). The results of transmission-disequilibrium tests for rs4460698 and rs3758249 for non-syndromic orofacial clefts were p=0.003, OR=2.781 (95% CI 1.414 to 5.469) and p=0.001, OR=2.552 (95%CI 1.574 to 4.138), respectively. This suggests that FOXE1 (rs4460498 and rs3758249) is strongly associated with non-syndromic cleft lip and palate in populations in northeast China, and further study between FOXE1 and non-syndromic orofacial clefts is necessary.

  1. 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…

  2. Bilateral cleft lip nasal deformity

    PubMed Central

    Singh, Arun Kumar; Nandini, R.

    2009-01-01

    Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the literature for correction of this deformity alludes to the fact that no single procedure is entirely effective. The timing for surgical intervention and its extent varies considerably. Early surgery on cartilage may adversely affect growth and development; at the same time, allowing the cartilage to grow in an abnormal position and contributing to aggravation of deformity. Some surgeons advocate correction of deformity at an early age. However, others like the cartilages to grow and mature before going in for surgery. With peer pressure also becoming an important consideration during the teens, the current trend is towards early intervention. There is no unanimity in the extent of nasal dissection to be done at the time of primary lip repair. While many perform limited nasal dissection for the fear of growth retardation, others opt for full cartilage correction at the time of primary surgery itself. The value of naso-alveolar moulding (NAM) too is not universally accepted and has now more opponents than proponents. Also most centres in the developing world have neither the personnel nor the facilities for the same. The secondary cleft nasal deformity is variable and is affected by the extent of the original abnormality, any prior surgeries performed and alteration due to nasal growth. This article reviews the currently popular methods for correction of nasal deformity associated with bilateral cleft lip, it's management both at the time of cleft lip repair and also secondarily

  3. Cleft lip and palate: series of unusual clinical cases.

    PubMed

    Paranaíba, Lívia Máris Ribeiro; Miranda, Roseli Teixeira de; Martelli, Daniella Reis Barbosa; Bonan, Paulo Rogério Ferreti; Almeida, Hudson de; Orsi Júnior, Julian Miranda; Martelli Júnior, Hercílio

    2010-01-01

    Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65% of all malformations of the craniofacial region. to describe unusual clinical cases of non-syndromic CL/P (CL/PNS), diagnosed in a reference service in Minas Gerais, Brazil, and correlate these alterations with possible risk factors. we carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records. Among the 778 cases of CL/PNS diagnosed in the period of 17 years, 5 (0.64%) were unusual CL/PNS, and all patients were male. It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. Risk factors such as consanguinity, maternal smoking and alcohol consumption, medication usage during pregnancy, history of abortion and/or stillbirths and maternal diseases were not associated with unusual CL/PNS. This study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen. It also confirmed the unusualness of the prevalence of such alterations.

  4. Breeding experiments and genome-wide association analysis elucidate two genetically different forms of non-syndromic congenital cleft lip and jaw in Vorderwald × Montbéliarde cattle.

    PubMed

    Reinartz, S; Distl, O

    2017-10-01

    Non-syndromic congenital cleft lip and jaw (CLJ) is a condition reported in Vorderwald × Montbéliarde cattle. The objective of the present study was to perform a genome-wide association study (GWAS) for 10 CLJ-affected and 50 unaffected Vorderwald × Montbéliarde cattle using the bovine Illumina high density bead chip to identify loci for this condition. Phenotypic classification of CLJ was based on a detailed recording of orofacial structures using computed tomography. A breeding experiment among CLJ-affected Vorderwald × Montbéliarde cattle and CLJ-affected Vorderwald × Montbéliarde cattle with unaffected Holsteins confirmed recessive inheritance and different loci for bilateral or left-sided versus right-sided CLJ. The GWAS for the five cases with right-sided CLJ gave a genome-wide signal on bovine chromosome (BTA) 29 at 16 Mb. For the four left-sided and one bilateral CLJ case, a genome-wide significant association was identified on BTA4 at 32 Mb. Two different loci are very likely to be involved in CLJ in Vorderwald × Montbéliarde cattle because experimental matings among affected cows and bulls with different types of CLJ did not result in CLJ-affected progeny, and in addition, two different loci were also found through GWAS and mapped on two different bovine chromosomes. Validation in 346 Vorderwald × Montbéliarde cattle for the highly associated SNPs on BTA4 and 29 gave ratios of 33/346 (0.095, BTA4) and 6/346 (0.017, BTA29) homozygous mutant genotypes. Further studies should elucidate the responsible mutations underlying the different types of CLJ in Vorderwald × Montbéliarde cattle. © 2017 Stichting International Foundation for Animal Genetics.

  5. Cleft lip and palate repair - discharge

    MedlinePlus

    ... lip and palate Cleft lip and palate repair Review Date 5/9/2016 Updated by: David A. ... and reconstructive plastic surgery, Palm Beach Gardens, FL. Review provided by VeriMed Healthcare Network. Also reviewed by ...

  6. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

    PubMed

    Leslie, E J; Koboldt, D C; Kang, C J; Ma, L; Hecht, J T; Wehby, G L; Christensen, K; Czeizel, A E; Deleyiannis, F W-B; Fulton, R S; Wilson, R K; Beaty, T H; Schutte, B C; Murray, J C; Marazita, M L

    2016-07-01

    Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24-0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Cleft Lip and Palate Repair: Our Experience.

    PubMed

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

    2017-09-12

    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

  8. 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.

  9. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting.

    PubMed

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-01-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning.

  10. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting

    PubMed Central

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-01-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning. PMID:26923345

  11. Ambulatory cleft lip surgery: A value analysis

    PubMed Central

    Arneja, Jugpal S; Mitton, Craig

    2013-01-01

    BACKGROUND: 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. OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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

  12. [Cleft lip and palate in Campeche Mayas].

    PubMed

    Weiss, K M; Georges, E; Levy, B; Aguirre, A; Portilla, R J; Gaitán, C L; Leyva, E; Rodríguez, T

    1988-07-01

    It has been suggested that among American Indians, as in some genetically-related Asiatic ethnic groups, incidence of cleft lip and/or cleft palate is higher than among people of Caucasian extraction. Such hypothesis, plus growing demand for services observed at a center for the surgery of cleft lip and cleft palate in Campeche state, led the authors to undertake research among the Maya residents of that region. However, neither careful review of case histories nor field research performed in several Indian communities could confirm the hypothesis of a higher incidence among this ethnic community.

  13. Cleft Lip and Palate (For Parents)

    MedlinePlus

    ... or more if they are having hearing problems. Dental Problems Children with a cleft lip and palate ... improve speech and breathing, overbites/underbites, and appearance. Dental and Orthodontic Treatment Maintaining healthy teeth and preventing ...

  14. Postoperative wound management after cleft lip surgery.

    PubMed

    Nagy, Krisztián; Mommaerts, Maurice Y

    2011-09-01

    Our aim was to describe the postoperative management and wound care protocol after primary cleft lip closure, as it has been used in the Bruges Cleft and Craniofacial Center at the supraregional teaching hospital AZ St. Jan, Bruges, between June 1, 1991, and July 1, 2009. The postoperative management and wound care included the use of a Logan bow, long-acting local anesthetic, elbow restraints, antibiotic therapy, crust removal with normal saline solution, and a special local wound ointment that was prepared at our center. During the last 19 years, 199 unilateral and 103 bilateral cleft lip patients have been repaired. 2.6% showed postoperative infection and/or dehiscence. One percent required readmission for reoperation. In 1.6%, inflammatory reaction was treated with oral antibiotics. The specific wound dressing ointment, as it is prepared in our department, could meet the requirements of primary wound management after cleft lip closure.

  15. Surgical correction of cleft lip and palate.

    PubMed

    Jayaram, Rahul; Huppa, Christoph

    2012-01-01

    Surgical cleft repair aims to restore function of the oro-nasal sphincter and oro-nasal soft tissues and re-establish the complex relationship between perioral and perinasal muscle rings without compromising subsequent mid-facial growth and development. Here we review the surgical anatomy of this region, optimal timing for surgical repair and current thinking on the use of surgical adjuncts. In addition, an overview of current surgical techniques available for the repair of cleft lip, cleft palate and velopharyngeal insufficiency is presented. Finally, we briefly discuss nasal revision surgery and the use of osteotomy, including distraction osteogenesis in the cleft patient.

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

    PubMed Central

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

    2016-01-01

    Background Individuals with non syndromic 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. Material and Methods 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. Results 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). Conclusions 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. Key words:Nonsyndromic cleft lip with or without palate, dental anomaly, tooth agenesis, microdontia. PMID:26615505

  17. [Cleft lip and palate--problematic cleft speech].

    PubMed

    Hortis-Dzierzbicka, M A

    1999-01-01

    The early restoration of facial and palatal morphology in patients with cleft of lip and/or palate provides the anatomical base for good speech outcome. The author gives the up todate overview of the main problems concerning cleft speech, such as velopalatal insufficiency and typical articulation errors. The article describes the modern methods for the evaluation of VPI and current trends in treatment modalities for VPI.

  18. Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.

    PubMed

    Heyne, Galen W; Melberg, Cal G; Doroodchi, Padydeh; Parins, Kia F; Kietzman, Henry W; Everson, Joshua L; Ansen-Wilson, Lydia J; Lipinski, Robert J

    2015-01-01

    The Hedgehog (Hh) signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE), clefts of the lip with or without cleft palate (CL/P), and clefts of the secondary palate only (CPO). Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD) 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in "non-syndromic" orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug.

  19. Breastfeeding After Early Repair of Cleft Lip in Newborns With Cleft Lip or Cleft Lip and Palate in a Baby-Friendly Designated Hospital.

    PubMed

    Burianova, Iva; Kulihova, Katarina; Vitkova, Veronika; Janota, Jan

    2017-08-01

    Goals of treatment of orofacial cleft are to improve feeding, speech, hearing, and facial appearance. Early surgery brings faster healing, better cosmetic effect, and fewer complications. Breastfeeding rates after early surgery are unknown. Early repair of the cleft lip may influence breastfeeding rates. Research aim: The aim of this study was to evaluate breastfeeding after early repair of the cleft lip in a Baby-Friendly designated hospital. The rate of breastfeeding in newborns with cleft lip was compared to cleft lip and palate. This was a retrospective cohort study. The study group included infants with cleft lip and cleft lip and palate operated on in the first 2 weeks of life. Newborns and their mothers were supported by a team promoting breastfeeding. One hundred four infants (70 boys and 34 girls) were included. Isolated cleft lip was present in 56 (53.8%) infants, and cleft lip and palate in 48 (46.2%). Forty-four (78.6%) of the infants with a cleft lip were breastfed, 3 (5.4%) received human milk via bottle or syringe, and 9 (16.0%) were formula fed. Three (6.2%) of the infants with a cleft lip and palate were breastfed, 31 (64.6%) received human milk via bottle or Haberman feeder, and 14 (29.2%) were formula fed. The rate of breastfeeding in patients following early surgery of the cleft lip was high and comparable to the general population. The rate of breastfeeding in babies with cleft lip and palate after early repair of the cleft lip remained low.

  20. Cross-talk between interleukin-6 and transforming growth factor-beta3 regulates extracellular matrix production by human fibroblasts from subjects with non-syndromic cleft lip and palate.

    PubMed

    Baroni, Tiziano; Carinci, Paolo; Bellucci, Catia; Lilli, Cinzia; Becchetti, Ennio; Carinci, Francesco; Stabellini, Giordano; Pezzetti, Furio; Caramelli, Elisabetta; Tognon, Mauro; Bodo, Maria

    2003-10-01

    Transforming growth factor-beta (TGF-beta) interference with interleukin 6 (IL-6) activity and the role of the latter in early human embryonic development prompted us to examine the effects IL-6 on matrix synthesis and the effects of TGF-beta3 on IL-6 expression human cleft lip and palate (CLP) fibroblasts. Collagen and glycosaminoglycan (GAG) synthesis were determined by radiolabeled precursors and biglycan expression by Northern blotting before and after adding IL-6. The effects of TGF-beta3 on IL-6 production were assayed by evaluating IL-6 transcript by Northern blotting and IL-6 protein secretion by enzyme-linked immunosorbent assay. The results showed that IL-6 elicited an inhibitory effect on collagen and GAG levels in CLP fibroblasts by lowering hyaluronan and dermatan sulfate secretion. IL-6 up-regulated biglycan expression, but less strongly than TGF-beta3. TGF-beta3 significantly down-regulated IL-6 transcript and secretion in CLP fibroblasts. These data suggest the increase in matrix components that characterize the CLP fibroblast phenotype might be due to a concerted TGF-beta3-IL-6 action. We hypothesize changes in cross-talk between TGF-beta3 and IL-6 signal transduction pathways are involved in the induction of cleft palate.

  1. [Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

    PubMed

    Huang, Y Q

    2017-04-09

    Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

  2. Maxillary sinus volumes of patients with unilateral cleft lip and palate.

    PubMed

    Erdur, Omer; Ucar, Faruk Izzet; Sekerci, Ahmet Ercan; Celikoglu, Mevlut; Buyuk, Suleyman Kutalmıs

    2015-10-01

    Studies about maxillary sinuses of cleft lip-palate patients have increased since sinusitis is commonly observed in these patients. It is evident that maxillary sinus will be morphologically affected in these patients. And anatomic differences may be a cause or at least a contributor of sinusitis. The aim of this study was to compare maxillary sinus volumes of the non-syndromic patients with unilateral cleft lip-palate and control group by using Cone-Beam computed tomography. Tomography scans of 44 unilateral cleft lip-palate patients (18 right and 26 left) with age and gender matched 45 control patients were evaluated for the study. The images used in the study were part of the diagnostic records collected due to dental treatment needs. All tomographs were obtained in supine position by using Cone-Beam computed tomography (NewTom 5G, QR, Verona, Italy). The patient-specific Hounsfield values were set to include the largest amount of voxels in the sinuses volume calculation individually. All data were measured in mm(3). There was no statistically difference between the gender and age distributions of the groups. No statistically significant difference was found on the cleft and non-cleft side, the right and left side of the unilateral cleft lip-palate patients and the control group (P>0.05). For the inter group comparison, mean maxillary sinus volumes volume of unilateral cleft lip-palate patients (9894.55±4171.44mm(3)) was statistically smaller than the control group (11,977.90±4484.93mm(3)) (P<0.05). Maxillary sinus volumes were effected negatively in unilateral cleft lip-palate patients when compared with the healthy control group. No difference was found on the cleft, non-cleft side and the right-left side of the unilateral cleft lip-palate patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Oblique lip-alveolar banding in patients with cleft lip and palate.

    PubMed

    Naidoo, S; Bütow, K-W

    2015-04-01

    We report an oblique lip-alveolar band, a rare banding of soft tissue that involves the lip and alveolus, which we have found in five patients with cleft lip and palate (0.2%), compared with an incidence of the Simonartz lip-lip band of 5.7%). To our knowledge this has not been reported previously. In two patients the bands affected the cleft lip and alveolus bilaterally, with or without the palatal cleft, and in three the bands were unilateral cleft lip and alveolus with or without the palatal cleft. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  4. 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.

  5. Cleft Lip and Cleft Palate Surgery: Malpractice Litigation Outcomes.

    PubMed

    Justin, Grant A; Brietzke, Scott E

    2017-01-01

      This study examined malpractice claims related to cleft lip and cleft palate surgery to identify common allegations and injuries and reviewed financial outcomes.   The WestlawNext legal database was analyzed for all malpractice lawsuits and settlements related to the surgical repair of cleft lip and palate.   Inclusion criteria included patients undergoing surgical repair of a primary cleft lip or palate or revision for complications of previous surgery. Data evaluated included patient demographics, type of operation performed, plaintiff allegation, nature of injury, and litigation outcomes.   A total of 36 cases were identified, with 12 unique cases from 1981 to 2006 meeting the inclusion criteria. Six cases (50%) were decided by a jury and six by settlement. Five cases involved complications related to the specific surgery, and the other seven were associated with any surgery and perioperative care of children and adults. Cleft palate repair (50%) was the most frequently litigated surgery. Postoperative negligent supervision was the most common allegation (42%) and resulted in a payout in each case (mean = $3,126,032). Death (42%) and brain injury (25%) were the most frequent injuries reported. Financial awards were made in nine cases (after adjusting for inflation, mean = $2,470,552, range = $0 to $7,704,585). The awards were significantly larger for brain injury than other outcomes ($4,675,395 versus $1,368,131 after adjusting for inflation, P = .0101).   Malpractice litigation regarding cleft lip and palate surgery is uncommon. However, significant financial awards involving perioperative brain injury have been reported.

  6. Cleft lip and palate care in Romania.

    PubMed

    Martin, Vanessa

    2011-11-01

    Vanessa Martin travelled with a surgical team to Romania over a period of 12 years to support nurses and improve practice in the treatment of cleft lip and palate. She recounts her experiences and the changes that took place during that time.

  7. Genetics of Cleft Lip and Cleft Palate

    PubMed Central

    Leslie, Elizabeth J.; Marazita, Mary L.

    2013-01-01

    Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. PMID:24124047

  8. Genetics of cleft lip and cleft palate.

    PubMed

    Leslie, Elizabeth J; Marazita, Mary L

    2013-11-01

    Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. © 2013 Wiley Periodicals, Inc.

  9. 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

  10. 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…

  11. 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…

  12. 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.

  13. Algorithms for the treatment of cleft lip and palate.

    PubMed

    Stal, S; Klebuc, M; Taylor, T D; Spira, M; Edwards, M

    1998-10-01

    Developing standardized outcomes and algorithms of treatment is a constantly evolving task. This article examines four variables in this process: cleft type, operative technique, surgical experience, and timing. Input from international cleft lip and palate programs regarding techniques and treatment modalities provide a dynamic tool for assessment and the development of guidelines in the treatment of the cleft lip and palate patient.

  14. Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study

    PubMed Central

    John, Joseph

    2015-01-01

    Background: Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. Aim: The aim of this study was to assess and compare the periodontal status of patients with cleft lip (CL), cleft palate (CP) and cleft lip, alveolus and palate (CLAP) reporting to a hospital in Chennai, India. Materials and Methods: The study group consisted of 80 cleft patients. Subjects were divided into three groups. Group 1: patients with cleft lip (CL), Group 2: subjects with cleft palate (CP) and Group 3: subjects with cleft lip alveolus and palate (CLAP). Community Periodontal Index for Treatment needs CPITN Index was recorded. Results: Among the 80 study subjects, 51 (63.8%) were males and 29 (36.2%) were females. Among the 26 study subjects with cleft lip, 10 (38.5%) had healthy periodontium, 4 (15.4%) had bleeding on probing and 12 (46.1%) had calculus. Mean number of sextants coded for healthy and bleeding was maximum among the subjects with cleft palate. Mean number of sextants coded for calculus was maximum among the subjects with cleft lip alveolus and palate. Prevalence of periodontal disease is high among patients with cleft lip, alveolus and palate (35%) than in Cleft lip (32.5%) and Cleft Palate (32.5%). Conclusion: Gingivitis and Calculus is predominantly high in patients with Cleft Palate and Cleft Lip respectively. PMID:25954706

  15. Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study.

    PubMed

    Nagappan, N; John, Joseph

    2015-03-01

    Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. The aim of this study was to assess and compare the periodontal status of patients with cleft lip (CL), cleft palate (CP) and cleft lip, alveolus and palate (CLAP) reporting to a hospital in Chennai, India. The study group consisted of 80 cleft patients. Subjects were divided into three groups. Group 1: patients with cleft lip (CL), Group 2: subjects with cleft palate (CP) and Group 3: subjects with cleft lip alveolus and palate (CLAP). Community Periodontal Index for Treatment needs CPITN Index was recorded. Among the 80 study subjects, 51 (63.8%) were males and 29 (36.2%) were females. Among the 26 study subjects with cleft lip, 10 (38.5%) had healthy periodontium, 4 (15.4%) had bleeding on probing and 12 (46.1%) had calculus. Mean number of sextants coded for healthy and bleeding was maximum among the subjects with cleft palate. Mean number of sextants coded for calculus was maximum among the subjects with cleft lip alveolus and palate. Prevalence of periodontal disease is high among patients with cleft lip, alveolus and palate (35%) than in Cleft lip (32.5%) and Cleft Palate (32.5%). Gingivitis and Calculus is predominantly high in patients with Cleft Palate and Cleft Lip respectively.

  16. Muencke syndrome with cleft lip and palate.

    PubMed

    Anderson, Peter J; Snell, Broughton; Moore, Mark H

    2013-07-01

    Muencke syndrome results from mutations in the FGFR3 gene, and although it is well recognized that the clinical presentation is variable, the important key finding includes coronal synostosis. We present a family where a mother with proven FGFR3 Pro250Arg mutation gave birth to identical twins both of whom had craniosynostosis but had coexisting bilateral cleft lip and palate. We believe that this is the first description of clefting occurring in conjunction with Muencke syndrome and so further extends the range of phenotypic variation that can occur in this syndrome.

  17. Feeding Techniques for Children Who Have Cleft Lip and Palate.

    ERIC Educational Resources Information Center

    Klein, Marsha Dunn

    This pamphlet on feeding techniques for children who have cleft lip and palate emphasizes the role of the parent as part of a team involving many specialists. The pamphlet begins with explanations of complete and incomplete separations of the lip, unilateral and bilateral cleft lips, corrective surgical procedures, etc. The importance of weight…

  18. Feeding Techniques for Children Who Have Cleft Lip and Palate.

    ERIC Educational Resources Information Center

    Klein, Marsha Dunn

    This pamphlet on feeding techniques for children who have cleft lip and palate emphasizes the role of the parent as part of a team involving many specialists. The pamphlet begins with explanations of complete and incomplete separations of the lip, unilateral and bilateral cleft lips, corrective surgical procedures, etc. The importance of weight…

  19. Cleft lip: a histochemical and ultrastructural analysis of lip muscles.

    PubMed

    Raposio, E; Cella, A; Panarese, P; Renzi, M; Caregnato, P; Barabino, P; Faggioni, M; Gualdi, A; Santi, P L

    1999-10-01

    In order to evaluate the pathogenesis of cleft-lip in relation to both the anatomical and structural anomalies of the mesenchymal tissues, the authors concluded that the presence of structural anomalies in the examined tissues could not explain the malformation, but might be a consequence of it. Delayed muscular development, asymmetrical distribution of the muscular fibres and their anomalous insertion suggest that the anatomical/functional loss clinically detectable in the orbicular muscle could be the result of a perinatal dysmorphological process rather than of a simple mesenchymal hypoplasia. Schendel et al. suggested that a metabolic defect in the mitochondrial function could cause a deficiency in cell migration and proliferation responsible for the malformation in question. To establish whether the pathogenesis of the cleft-lip is associated with an alteration in mitochondrial functionality, eight patients affected by unilateral cleft-lip were subjected to a biopsy of the orbicular muscle during the course of reparative surgery. The results obtained showed: 1) a great variation in the size of muscle fibres; 2) the absence of ragged red fibres; 3) a normal oxidative function in the muscle fibres examined; 4) the absence of typologically significant groupings positive for myofibral ATPases. Furthermore, the morphology of the mitochondria was preserved in all cases and neither inclusions nor morphological or volumetric changes were detected. This preliminary data did not confirm the constant presence of mitochondrial pathology responsible for the malformation in question. In our opinion, the growth deficiency of the maxillary segment could be ascribed to the cicatrization of the surgical repair of the cleft-lip.

  20. Effects of lip repair on maxillofacial morphology in patients with unilateral cleft lip with or without cleft palate.

    PubMed

    Shao, Qinghua; Chen, Zhengxi; Yang, Yang; Chen, Zhenqi

    2014-11-01

    Objective : To evaluate the effects of lip repair on maxillofacial development of patients with unilateral cleft lip with or without cleft palate. Design : Retrospective. Patients : A total of 75 patients were recruited, including 38 surgical patients with complete unilateral cleft lip and alveolus and 37 patients with complete unilateral cleft lip and palate who had lip but not palate repair. As controls, 38 patients with no cleft were selected. All subjects were divided according to two growth stages: before the pubertal peak (GS1) and after the pubertal peak (GS2). Interventions : Lateral cephalograms of all subjects were obtained. Main Outcome Measures : Cephalograms were analyzed and compared in the study and control groups. Results : The patients with unilateral cleft lip and palate in both GS1 and GS2 demonstrated an almost normal maxillary and mandibular growth with retroclined maxillary incisors. The patients with unilateral cleft lip and palate showed a shorter length of maxilla, a more clockwise-rotated mandible, and retroclined maxillary incisors. Conclusions : There was an almost normal maxillary and mandibular growth but retroclined maxillary incisors in patients with cleft lip with or without cleft palate who had received lip repair only, indicating that lip repair may not have a negative impact on the maxillofacial development and influences only the inclination of the maxillary incisors. The shorter anterior-posterior maxillary length and larger gonial angle in patients with unilateral cleft lip and palate compared with those in patients with unilateral cleft lip and alveolus suggest that these variations in maxillary and mandibular growth may be a consequence of the cleft itself.

  1. Cleft Lip and Cleft Palate--What to Know and Who Can Help

    ERIC Educational Resources Information Center

    Apel, Laura

    2008-01-01

    Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

  2. Cleft Lip and Cleft Palate--What to Know and Who Can Help

    ERIC Educational Resources Information Center

    Apel, Laura

    2008-01-01

    Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

  3. Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

    PubMed

    Salahshourifar, Iman; Wan Sulaiman, Wan Azman; Halim, Ahmad Sukari; Zilfalil, Bin Alwi

    2012-06-01

    Non-syndromic oral clefts share the main clinical features of Van der Woude Syndrome (VWS), with the exception of the lower lip pit. Thus, about 15% of VWS cases are indistinguishable from cases with non-syndromic oral clefts. IRF6 mutations are the major cause of VWS; however, variants in this gene show strong association with non-syndromic oral clefts, with a higher increased risk among cases with cleft lip only (CLO). A total of 39 individuals, including 16 patients with CLO and 23 patients with a family history of cleft, were examined for IRF6 mutations in the present study. Seven variants, including five known (c.-75-4 A>; G, c.-73T>; C, c.459G>; T 5, c.820G>; A, and c.1060 + 37C>; T) and two novel (c.-75-23G>; C and c.1380G>; T), were found. Both novel variants were inherited from non-affected parents and we did not find also in the 120 control chromosomes. In silico analysis revealed that both c.1380G>; T and c.-75-23G>; C variants may disrupts a putative exonic splicing enhancer and intronic splicing binding site for SC35, respectively. Taken together, the presence of deleterious IRF6 variants in patients with non-syndromic oral clefts could be most likely an evidence for VWS. While, IRF6 variants could, at best, contribute to clefting as part of a complex inheritance pattern, with both additional genes and environmental factors having a role. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  4. 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.

  5. Hematological parameters in patients of cleft lip and cleft palate with special reference to eosinophil counts.

    PubMed

    Singhal, Shipra; Negi, Gita; Chandra, Harish; Chandra, Smita; Gaur, Dushyant Singh; Rajan, Manu

    2014-01-01

    Birth abnormalities like cleft lip and cleft palate account for about 1.4 per 1000 live births in India. These are seen to be associated with a high incidence of eosinophilia which delays the surgical management of these patients. The aim of this paper is to study the hematological parameters in patients of cleft lip and cleft palate. A total of 223 cases of cleft lip and cleft palate were taken up for the study. Hematological parameters including hemoglobin, total leukocyte count, differential leukocyte count, absolute eosinophil count, and red cell indices were studied. Anemia was found in 182/223 (81.63%) cases which was most commonly of microcytic hypochromic type. Eosinophilia was seen in 46/223 (20.60%) cases. Many cleft lip and cleft palate patients show high eosinophil counts. Absolute eosinophil count was found to be a better parameter for assessment of eosinophils.

  6. Association between velopharyngeal function and dental-consonant misarticulations in children with cleft lip/palate.

    PubMed

    Pulkkinen, J; Haapanen, M L; Laitinen, J; Paaso, M; Ranta, R

    2001-06-01

    We studied the association between velopharyngeal function and misarticulation of the dental consonants /r/, /s/ and /l/ in children with cleft lip/palate. We assessed 278 6-year-old Finnish-speaking non-syndromic children (115 girls, 163 boys) with isolated cleft palate (n= 81), cleft lip/alveolus (n= 82) or unilateral (n= 84) or bilateral (n= 31) cleft lip and palate. Auditory analysis of speech and velopharyngeal function, the presence of fistulae, previous velopharyngoplasty and speech therapy, as well as surgical technique and timing of primary palatal surgery were obtained from the hospital records. The misarticulations of the sounds /r/, /s/ and /l/ were evaluated in spontaneous speech by two experienced speech pathologists from the cleft team. Velopharyngeal function was categorised, on the basis of the effect on speech, into competent, marginal incompetent and obvious incompetent. Nasal grimace and distortions due to palatal fistulae were registered. The results indicated that velopharyngeal function was not significantly associated with misarticulation of any of the sounds /r/, /s/ and /l/ or their combinations in any cleft groups. The technique and timing of primary palatal surgery, the presence of fistulae and previous pharyngoplasty were not associated with misarticulations. On the basis of these results we conclude that dental-consonant misarticulations occur independently of velopharyngeal function, primary palatal surgical technique and timing of palatoplasty.

  7. Usefulness of Microfat Grafting in Patients With Repaired Cleft Lip.

    PubMed

    Bae, Yong Chan; Park, Tae Seo; Kang, Gyu Bin; Nam, Su Bong; Bae, Seong Hwan

    2016-10-01

    In many patients, the volume of the upper lip is deficient after cleft lip repair operation. However, there is no well-established procedure to correct this volume deficiency. In the present study, the authors attempted to increase the overall three-dimensional volume of the upper lip in repaired cleft lip patients with upper lip volume deficiency through autogenous microfat grafting. Thirty patients with upper lip volume deficiency after cleft lip repair underwent fat grafting in the upper lip from November 2007 to March 2015. Among these patients, postoperative outcome was evaluated in 15 patients using 2 methods for the evaluation. One method involved measuring the change in the shape of lips using pre- and postoperative photographs, and the other involved investigating the levels of satisfaction with the surgical results by distributing a scoring questionnaire to patients, doctors, and the general public. The ratio of upper lip protrusion relative to the lower lip increased by 46.71% on average after operation, and the sum of the vermilion heights increased by 31.68% on average. In the survey of satisfaction levels, patients, plastic surgeons, and the general public gave mean scores of 3.80, 3.91, and 4.03, respectively. When volume deficiency of the upper lip is present in repaired cleft lip patients, correction using autogenous microfat grafting is believed to be effective.

  8. 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.

  9. Orthognathic surgery in the cleft lip and palate patient.

    PubMed

    Herber, S C; Lehman, J A

    1993-10-01

    Orthognathic surgery for the cleft lip and palate patient should be designed to achieve good facial aesthetics and a stable, functional occlusion. Maxillary and mandibular osteotomies, which benefit cleft lip and palate patients with associated dentofacial deformities, should be modified to meet the needs of the individual patient. Soft-tissue correction of the upper lip and nose adds to the overall aesthetic result, but should be performed as a separate procedure.

  10. Unfavourable results in the repair of the cleft lip

    PubMed Central

    Narayanan, Puthucode V.; Adenwalla, Hirji Sorab

    2013-01-01

    Introduction: Unfavorable results in unilateral and bilateral cleft lip repair are often easy to spot but not always easy to prevent as to treat. We have tried to deal with the more common problems and explain possible causes and the best possible management options from our experience. Unilateral cleft lip repair: Unfavorable results immediately after repair involve Dehiscence and Scaring. Delayed blemishes include vermillion notching, a short lip, deficiency in the height of the lateral vermillion on the cleft side, white roll malalignment, oro-vestibular fistula, the cleft lip nose deformity, a narrow nostril and a “high-riding” nostril. We analyze the causes of these blemishes and outline our views regarding the treatment of these. Bilateral cleft lip: Immediate problems again include dehiscence as also loss of prolabium or premaxilla. Delayed unfavorable results are central vermillion deficiency, a lip that is too tight, bilateral cleft lip nose deformity, problems with the premaxilla and maxillary growth disturbances. Here again we discuss the causation of these problems and our preferred methods of treatment. Conclusion: We have detailed the significant unfavorable results after unilateral and bilateral cleft lip surgery. The methods of treatment advocated have been layer from our own experience. PMID:24501453

  11. Comparison of Intercanine and Intermolar Width Between Cleft Lip Palate and Normal Class I Occlusion Group.

    PubMed

    Wahaj, Aiyesha; Ahmed, Imtiaz

    2015-11-01

    To determine the mean difference of arch dimensions (both intercanine and intermolar width) between cleft lip palate and normal class I occlusion group. Cross-sectional analytic study. Dr. Ishrat-ul-Ebad Khan Institute of Oral Health Sciences, [Dow University of Health Sciences (DUHS)], Karachi, from March 2012 to April 2013. Group 1 consisted of 32 subjects with complete repaired, non-syndromic unilateral and bilateral cleft lip palate. Group 2 consisted of 32 subjects with normal facial morphology and class I occlusion. Exclusion criteria were cleft lip palate subjects with systemic diseases, any arch expansion procedure, incomplete repaired palate, open fistulas, developmental or acquired craniofacial muscular deformities, autoimmune conditions, syndromes, endocrine abnormalities, neurological problems, or previous history of orthodontic treatment and signs and symptoms of temporomandibular disorders, history of trauma, impacted or missing teeth, periodontally involved teeth, subdivision molar classification, skeletal base II and III with molar class I. The transverse width (intercanine and intermolar width) of dental casts was measured with the help of digital caliper. The intercanine width was measured between cusp tips of the canine while the intermolar width distance was measured between mesiobuccal cusp tips of first molars, and buccal grooves of the mandibular first molars in both cleft lip palate and normal class I occlusion group, respectively. There were 64 subjects with mean 14.7 ±6.8 years in the cleft palate and 14.7 ±6.3 years in the normal group. There was statistically significant differences found between intercanine and intermolar width in maxillary arch (p < 0.001). In mandibular arch, only intercanine width has showed significant difference (p < 0.001) between cleft and normal occlusion class I group. Maxillary and mandibular intercanine width was found to be significantly reduced in cleft lip palate group (both unilateral

  12. [Approach of the unilateral cleft lip with Meara's cheiloplasty technique].

    PubMed

    Hernández-Díaz, C; Albert Cazalla, A; Parri Ferrandis, F J; Correa Jorquera, J; Rubio-Palau, J

    2017-04-20

    Isolated cleft lip is the mildest form of the cleft lip and palate spectrum; however those patients are often treated with the same surgical techniques that are used for the more severe cases (advancement-rotation flaps, quadrangular flaps). Meara's cheiloplasty technique may be a less aggressive option for lip repair in isolated cleft lip or whenever the gap between labial segments is not wide. All children that had their cleft lip repaired following Meara's cheiloplasty between May 2014 and December 2015 were retrospectively reviewed. Duration of the surgical procedure, time to hospital discharge and complications were noted. Aesthetic results were evaluated in terms of lip height and symmetry, nose shape and symmetry, and scar appearance. Thirteen patients underwent Meara's cheiloplasty during this period. The average age was 6.11 months (5 to 12 months). A primary rhinoplasty was done at the same time in case of nasal asymmetry. Duration of the lip repair averaged 85 minutes. Oral feeding was started 4 hours after the procedure; bottle-feeding was withheld for 2 weeks postoperatively, as our protocol recommends after other lip repair techniques. In all 13 cases the result was a symmetrical, adequately high upper lip and a well-balanced nose, except for one case of lip scar retraction that was solved with triamcinolone infiltration. There were no other intra or postoperative complications. Meara's cheiloplasty corrects small or moderate gap cleft lip (usually cleft lip without cleft alveolus). Benefits over other teccniques are a shorter procedure and less geometric, undulate flaps that produce a harmonic lip.

  13. Palatal changes after lip surgery in different types of cleft lip and palate.

    PubMed

    Kramer, G J; Hoeksma, J B; Prahl-Andersen, B

    1994-09-01

    This study concerns palatal development during 6 months following primary lip closure. The sample consisted of 75 children with different forms of cleft lip and palate and 51 noncleft children. The palate was measured at 3 months of age, just before lip surgery, after surgery at 6 months, and again at 9 months of age. The results showed that lip closure has a strong effect in the anterior alveolar region. This effect was restricted to 3 months after surgery. The changes in complete clefts were more explicit than in incomplete cleft forms. Furthermore, the data showed that arch depth reduction due to lip surgery was compensated for by continued anteroposterior palatal growth. Early orthopedics appeared to prevent major palatal collapse immediately after lip surgery. Finally simultaneous closure of the alveolar cleft at the nasal side resulted in continued reduction of anterior cleft width.

  14. Measuring Symmetry in Children With Cleft Lip. Part 2: Quantification of Nasolabial Symmetry Before and After Cleft Lip Repair.

    PubMed

    Wu, Jia; Liang, Shu; Shapiro, Linda; Tse, Raymond

    2016-11-01

      The first part of this study validated an automated computer-based method of identifying the three-dimensional midfacial plane in children with unrepaired cleft lip. The purpose of this second part is to develop computer-based methods to quantify symmetry and to determine the correlation of these measures to clinical expectations.   A total of 35 infants with unrepaired unilateral cleft lip and 14 infant controls.   Six computer-based methods of quantifying symmetry were developed and applied to the three-dimensional images of infants with unilateral cleft lip before and after cleft lip repair and to those of controls.   Symmetry scores for cleft type, changes with surgery, and individual subjects ranked according to cleft severity were assessed.   Significant differences in symmetry scores were found between cleft types and found before and after surgery. Symmetry scores for infants with unilateral cleft lip approached those of controls after surgery, and there was a strong correlation with ranked cleft severity.   Our computer-based three-dimensional analysis of nasolabial symmetry correlated with clinical expectations. Automated processing made measurement convenient. Use of these measures may help to objectively measure cleft severity and treatment outcome.

  15. Cleft size at the time of palate repair in complete unilateral cleft lip and palate as an indicator of maxillary growth.

    PubMed

    Liao, Y-F; Prasad, N K K; Chiu, Y-T; Yun, C; Chen, P K-T

    2010-10-01

    Cleft size at the time of palate repair might affect the difficulty of surgical repair and, thus, indirectly postoperative maxillary growth. This retrospective study aimed to determine whether a correlation existed between the cleft size at the time of palate repair and the growth of the maxilla. Maxillary dental casts of 39 infants with non-syndromic complete unilateral cleft lip and palate, taken at the time of palate repair, were used to measure cleft size. Cleft size was defined as the percentage of the total palatal area. The later growth of the maxilla was determined using lateral and postero-anterior cephalometric radiographs taken at 9 years of age. The Pearson correlation analysis was used for statistical analysis. The results showed negative correlations between cleft size and the maxillary length (PMP-ANS, PMP-A) and the maxillary protrusion (S-N-ANS, SNA). These data suggest that in patients with complete unilateral cleft lip and palate there is a significant correlation between the cleft size at the time of palate repair and the maxillary length and protrusion. Patients with a large cleft at the time of palate repair have a shorter and more retrusive maxilla than those with a small cleft by the age of 9 years. Copyright © 2010 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  16. Natal and neonatal teeth among cleft lip and palate infants

    PubMed Central

    Kadam, Manjushree; Kadam, Dinesh; Bhandary, Sanath; Hukkeri, Rajesh Y.

    2013-01-01

    Objective: Natal/neonatal teeth are reported to be more common among clefts and congenital anomalies. Data exclusively among clefts is sparse. The aim was to evaluate prevalence of natal teeth among cleft lip and palate neonates and review the causes, presentation, associated anomalies, complications and management. Materials and Methods: Out of 641operated patients, records of 151 infants with cleft lip and palate with less than three months of age presented to the department of plastic and reconstructive surgery from 2005 to 2011 were reviewed. Out of which 107 were unilateral complete lip and palate (ULCP), 15 bilateral cleft lip and isolated cleft palate constituted 29. Results: Three patients among the studied records showed neonatal teeth. Two had paired central mandibular incisor teeth along with associated other anomalies and one had a single maxillary neonatal tooth. All were present in unilateral cleft lip and none of the bilateral or isolated cleft palate infants showed neonatal teeth. The overall incidence of neonatal teeth was 1.98% and 2.8% in unilateral Cleft lip. Conclusion: Our study supports the incidence of 2% natal teeth among UCLP. Involvement of mandibular central incisors in contrast to the notion that maxillary alveolus is more commonly affected suggest that it is not only the anatomical disturbance but also all those possible common multifactorial etiological factors contributing to the congenital anomalies as such. Natal/neonatal teeth are rather under-diagnosed and reported than a rare phenomenon and the prevalence is higher in certain population. Riga-Fede disease unlikely to be seen in clefts with neonatal teeth due to anatomical factors. The extraction of non mobile tooth if necessary can be done during the primary surgery for the cleft lip. PMID:24163556

  17. Natal and neonatal teeth among cleft lip and palate infants.

    PubMed

    Kadam, Manjushree; Kadam, Dinesh; Bhandary, Sanath; Hukkeri, Rajesh Y

    2013-01-01

    Natal/neonatal teeth are reported to be more common among clefts and congenital anomalies. Data exclusively among clefts is sparse. The aim was to evaluate prevalence of natal teeth among cleft lip and palate neonates and review the causes, presentation, associated anomalies, complications and management. Out of 641operated patients, records of 151 infants with cleft lip and palate with less than three months of age presented to the department of plastic and reconstructive surgery from 2005 to 2011 were reviewed. Out of which 107 were unilateral complete lip and palate (ULCP), 15 bilateral cleft lip and isolated cleft palate constituted 29. Three patients among the studied records showed neonatal teeth. Two had paired central mandibular incisor teeth along with associated other anomalies and one had a single maxillary neonatal tooth. All were present in unilateral cleft lip and none of the bilateral or isolated cleft palate infants showed neonatal teeth. The overall incidence of neonatal teeth was 1.98% and 2.8% in unilateral Cleft lip. Our study supports the incidence of 2% natal teeth among UCLP. Involvement of mandibular central incisors in contrast to the notion that maxillary alveolus is more commonly affected suggest that it is not only the anatomical disturbance but also all those possible common multifactorial etiological factors contributing to the congenital anomalies as such. Natal/neonatal teeth are rather under-diagnosed and reported than a rare phenomenon and the prevalence is higher in certain population. Riga-Fede disease unlikely to be seen in clefts with neonatal teeth due to anatomical factors. The extraction of non mobile tooth if necessary can be done during the primary surgery for the cleft lip.

  18. Primary treatment for cleft lip and/or cleft palate in children in Japan.

    PubMed

    Uchiyama, Takeshi; Yamashita, Yukari; Susami, Takafumi; Kochi, Shoko; Suzuki, Shigehiko; Takagi, Ritsuo; Tachimura, Takashi; Nakano, Yoko; Shibui, Takeo; Michi, Ken-ichi; Nishio, Juntaro; Hata, Yuiro

    2012-05-01

    To investigate current trends in primary treatment for children with cleft lip and/or cleft palate in Japan. Nationwide, retrospective study under the direction of the Academic Survey Committee of the Japanese Cleft Palate Association based on analysis of data obtained via a booklet-style questionnaire completed by institutions providing primary treatment for cleft lip and/or palate patients. PARTICIPANTS, PATIENTS: Patients were 4349 children undergoing primary repair for cleft lip and/or palate at 107 participating institutions between 1996 and 2000. Cleft type, laterality; use of infant palatal plate; and timing and technique of primary repair for cleft lip and/or palate were evaluated by cleft surgeons at 107 participating institutions. Of a total of 2874 patients with cleft lip and palate or cleft palate only, infant palatal plates were used with 1087 (37.8%) and were not used with 1787 (62.2%). Primary unilateral lip repair was performed at the age of 2 to 6 months in more than 90% of patients. Bilateral cleft lip was treated by one-stage repair in 285 patients (44.5%) and by two-stage repair in 258 (40.2%). Primary one-stage palatal repair was performed in 2212 (76.9%) and two-stage palatal repair in 262 (9.1%) cleft palate patients. Information on treatment of the remaining 400 (14%) patients was unavailable. This investigation clarified current trends in primary treatment for cleft lip and/or palate in Japan. The results suggest the need for an increase in regional core hospitals and greater variation in treatment options.

  19. Candidate pathway based analysis for cleft lip with or without cleft palate.

    PubMed

    Zhang, Tian-Xiao; Beaty, Terri H; Ruczinski, Ingo

    2012-01-06

    The objective of this research was to identify potential biological pathways associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and to explore the potential biological mechanisms underlying these associated pathways on risk of NSCL/P. This project was based on the dataset of a previously published genome-wide association (GWA) study on NSCL/P (Beaty et al. 2010). Case-parent trios used here originated from an international consortium (The Gene, Environment Association Studies consortium, GENEVA) formed in 2007. A total of 5,742 individuals from 1,908 CL/P case-parents trios (1,591 complete trios and 317 incomplete trios where one parent was missing) were collected and genotyped using the Illumina Human610-Quad array. Candidate pathways were selected using a list of 356 genes that may be related to oral clefts. In total, 42 candidate pathways, which included 1,564 genes and 40,208 SNPs were tested. Using a pathway-based analysis approach proposed by Wang et al (2007), we conducted a permutation-based test to assess the statistical significance of the nominal p-values of 42 candidate pathways. The analysis revealed several pathways yielding nominally significant p-values. However, controlling for the family wise error rate, none of these pathways could retain statistical significance. Nominal p-values of these pathways were concentrated at the lower tail of the distribution, with more than expected low p-values. A permutation based test for examining this type of distribution pattern yielded an overall p-value of 0.029. Thus, while this pathway-based analysis did not yield a clear significant result for any particular pathway, we conclude that one or more of the genes and pathways considered here likely do play a role in oral clefting.

  20. Presurgical nasal moulding in a neonate with cleft lip

    PubMed Central

    Deshpande, Anshula; Shah, Dixit; Macwan, Chirag S

    2014-01-01

    The concept of presurgical nasoalveolar moulding (PNM) was developed to improve the aesthetic result of surgically corrected cleft lip. This paper presents the method of fabrication of PNM appliance and the case of a 30-day-old neonate with unilateral cleft lip in whom nasal moulding was performed. Treatment was initiated at 30 days and continued for 60 days after which the surgical correction of cleft lip was performed. Significant improvement in aesthetics and symmetry of the nose was achieved at the end of the treatment. PMID:24928928

  1. 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

  2. The use of an inferior pennant flap during unilateral cleft lip repair improves lip height symmetry

    PubMed Central

    Russell, Aaron J.; Patel, Kamlesh B.; Skolnick, Gary B.; Woo, Albert S.

    2015-01-01

    Background In order to improve the rotation of Cupid’s bow and achieve sufficient vertical lip height, several variations of the Millard rotation-advancement have incorporated a small laterally-based triangular flap above the cutaneous roll. This study uses three-dimensional photogrammetry to evaluate the outcomes of unilateral cleft lip repairs performed with and without pennant flaps. Methods Three-dimensional photographs were analyzed to assess postoperative lip height asymmetry in 90 unilateral cleft lip patients (58 complete, 32 incomplete) treated between 2001 and 2012. Cleft lip repairs were performed by 3 pediatric cleft surgeons using different techniques. Thirty-nine of 90 (43%) procedures utilized an inferiorly placed triangular flap. All patients were photographed at least 9 months postoperatively (mean = 4.2 years). Lip height asymmetry was based on the vertical distances from the subnasale to the peaks of Cupid’s bow. Results Regression analysis revealed that the use of a pennant flap was a significant predictor of postoperative lip height asymmetry (B = 4.2%, p = 0.015). The surgeon performing the repair was also a significant factor in patients with complete cleft lips (B = 3.6%, p = 0.005). All three surgeons achieved greater lip height symmetry when a pennant flap was performed. Conclusions The results of unilateral cleft lip repairs are affected by both the surgeon and the surgical technique. Procedures that utilized a pennant flap showed better philtral height symmetry than non-pennant repairs. PMID:26505705

  3. 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

  4. Non-syndromal oro-facial clefts in the Canterbury/ West Coast region, 1960-2000.

    PubMed

    Fowler, Peter; Esson, Ian

    2005-09-01

    The paper-based clinical assessment notes from Christchurch Hospital Cleft Clinic were transferred to electronic form in 2002. This enabled analysis of the types of non-syndromal orofacial clefts presenting within the Canterbury and West Coast region over a 41 year period. The incidence of oro-facial clefting was similar to that described in previous New Zealand studies, but higher than that found in United Kingdom studies. Orthodontists providing care in the cleft clinics in New Zealand have begun to investigate the use of a standardised electronic national database of patients presenting with oro-facial clefts. It is expected that this could provide the basis for a more detailed, robust and standardised database for future analysis.

  5. 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

  6. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study

    PubMed Central

    Datana, Sanjeev; Kumar, Prasanna; Kumar Roy, Supriya; Londhe, Sanjay

    2014-01-01

    ABSTRACT% Purpose: The patients with cleft lip and palate have a higher risk of cervical vertebrae anomalies than do patients in general population. The aim of present study was to determine the prevalence of various upper cervical spine anomalies in different type of clefts. Procedures: Lateral cephalograms of 128 patients (66 males, 62 females) with cleft lip and palate, and 125 (60 males, 65 females) non syndromic patients without cleft lip and palate were selected at random from archive. Cephalograms of the patients were traced and the diagnosis of any cervical vertebrae anomaly was noted. Anomalies were categorized as either: posterior arch deficiency or fusions. Main findings: Prevalence of cervical vertebrae anomalies in the c lef t group was 20. 3% while it was 6.4% in the control group. Further cervical vertebrae anomalies were 16.6% in the CPO group, 19.1% in the BCLP group, and 22.2% in the UCLP group. Conclusion: A higher prevalence of cervical vertebrae anomalies was observed in cleft lip and palate patients. The prevalenc e obser ved is 3 times more in clef t group than c ontrol group. How to cite this article: Datana S, Bhalla A, Kumar P, Roy SK, Londhe S. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study. Int J Clin Pediatr Dent 2014;7(3):168-171. PMID:25709295

  7. Effect of cleft lip palate repair on craniofacial growth

    PubMed Central

    Naqvi, Zuber Ahamed; Shivalinga, BM; Ravi, S; Munawwar, Syeda Sarah

    2015-01-01

    Objective: The aim of this cross-sectional study was to compare craniofacial growth among operated and unoperated unilateral cleft lip and palate non-syndromic subjects. Materials and Methods: A sample of 180 subjects of Indian origin was selected. Of them, 90 were operated, and 90 were unoperated complete unilateral cleft lip and palate individuals. The subjects were divided into three age groups of 3–5, 8–10, and 20–25 years comprised of 30 patients in each group. The following measurements were evaluated: Angle and length of the cranial base; maxillary spatial positioning and length; mandibular spatial positioning; morphology and length; maxillomandibular relationship. Comparative analysis of the means between the groups was performed with Student's t-test at the significance levels of 5%. The ANOVA test has been performed to test the effect of time. Results: No significant differences were observed between the measurements that represented the angle and length of the cranial base of unoperated and the operated patients (P>0.05). There was statistically significant decrease (P˂0.05) in the maxillary length (Co-A; 69.00 mm in 3–5 years, 68.33 mm in 8–10 years, and 67.17 mm in 20–25 years age group), and SNA angle (74.83° in 3–5 years, 74.17 ° in 8–10 years and 73.17 ° in 20–25 years age group) in operated group. No significant difference noticed on cephalometric values of the mandible, except Ar-Go-Me angle (P˂0.05), which showed vertical growth pattern in unoperated patients (132.50 ° in 3–5 years, 132.00 ° I 8–10 years and 138.33 ° in 20–25 years age group). Conclusion: Lip and palate repair has a significant influence on the maxilla and resulting in retarded growth of maxilla, which causes midface deficiency beyond acceptable sagittal limits. The Gonial angle showed vertical growth pattern in unoperated patients, but the cranial base angle and length of unoperated and the operated patients were similar. PMID:26229945

  8. Spectrographic measures of the speech of young children with cleft lip and cleft palate.

    PubMed

    Casal, C; Domínguez, C; Fernández, A; Sarget, R; Martínez-Celdrán, E; Sentís-Vilalta, J; Gay-Escoda, C

    2002-01-01

    Twenty-two consecutive children with repaired cleft lip and/or palate [isolated cleft lip (CL) 6, isolated cleft palate (CP) 7, unilateral cleft lip and palate (UCLP) 7, and bilateral cleft lip and palate 2] with a mean age of 27 months underwent spectrographic measures of tape-recorded speech (DSP Sona-Graph digital unit). Controls were 22 age- and sex-matched noncleft children. Data analyzed included (1) the Spanish vocalic variables [a, i, u, e, o]: first formant, second formant, duration, and context; (2) obstruent variables [p, t, k]: burst, voice onset time, and duration, and (3) nasal variables [m]: first formant, second formant, and duration. Statistically significant differences were observed between the CL group and the control group in the first formant of [e] and in the increase of the frequency of the [t] burst. Comparison between UCLP and controls showed differences in the second formant of [a], in the first formant of [o], and in the second formant of [o]. These results suggest a small but significant influence of either the cleft lip or its repair on lip rounding for [o] and [u]. In addition, tongue position differences were most likely responsible for the differences seen with [a] and [e]. Spectrographic differences in the current patients did not contribute to meaningful differences in speech sound development. Individualized care (orthodontics, surgery, speech therapy) in children with cleft lip and/or palate attended at specialized craniofacial units contributes to normalization of speech development.

  9. 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.

  10. Presurgical nasoalveolar moulding in unilateral cleft lip and palate.

    PubMed

    Zuhaib, Mohammed; Bonanthaya, Krishnamurthy; Parmar, Renu; Shetty, Pritham N; Sharma, Pradeep

    2016-01-01

    Presurgical nasoalveolar moulding (PNAM) is a non-surgical method of reshaping the cleft lip, alveolus, palate and the nose to minimize the severity of the cleft deformity, before primary cheiloplastyand palatoplasty. In this context, PNAM proves to be an invaluable asset in the management of unilateral cleft lip and palate. The study was conducted to evaluate the efficacy of PNAM in the management of unilateral cleft lip and palate with the following objectives: (1) To assess and compare the degree of reduction in the size of cleft palate and alveolus (pre-PNAM and post-PNAM). (2) To evaluate and compare the improvement in columellar length and correction of columellar deviation (pre-PNAM and post-PNAM). (3) To assess the changes in the position of the alar base and the alar cartilages. Prospective study. A prospective study consisting of, which included 20 patients with complete unilateral cleft lip and palate was conducted. The age at the start of PNAM treatment of the infants ranged from 2 to 44 days of age reporting to our institute between December 2011 and August 2013. All the patients underwent PNAM therapy before primary cheiloplasty at 6 months of age; clinical parameters were assessed pre- and post-therapy using photographs and dental study models of the maxilla. Student's t-test for paired comparisons. Results of the study showed a promising reduction in the cleft size before the surgery, significant improvement in nasal symmetry, including the columellar length on the cleft side. PNAM is a valuable adjunct to our surgical armamentarium in dealing with the challenges of primary closure of unilateral cleft lip and palate thereby enhancing the overall surgical outcome. The advantages of this method include the simplicity of the procedure and improving the quality of surgical repair, particularly in obtaining tension free muscle closure in unilateral clefts.

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

    PubMed Central

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

    2016-01-01

    Objective: The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. Materials and Methods: 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. Results: 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. Conclusion: 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. PMID:27195223

  12. 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.

  13. Lip tape therapy in patients with a cleft lip--a report on eight cases.

    PubMed

    Dawjee, S M; Julyan, J C; Krynauw, J C

    2014-03-01

    Lip tape therapy or lip taping is a widely used tissue approximation technique in cleft lip babies. Vari ous tapes have been tested and used worldwide. Allergic reactions and skin irritation are the most common problems encountered. Tension force across the tape cannot be consistently applied. Cost is also an obstacle to adopting lip tape therapy, particularly in developing countries. A study was undertaken to evaluate a different tape, "physio tape", which has never been used for lip approxima tion in cleft lip babies. Eight babies were available for this study, which was conducted over a six-week period (Ethical Approval number 33/2013). Standardised pre- and post-treatment recordings were made with a digital camera and soft tissue analysis was carried out with Cliniview software. All participants showed a reduction in cleft size ranging from 9.1mm to 36.7mm at the vermillion end of the cleft. Caregivers had no difficulty with the lip tape procedure and generally no untoward or allergic reactions were reported. On the basis of the positive results of this in vestigation, t is recommended that this method of lip tape therapy be used on all babies born wth a cleft lip. It is affordable, simple to use and should facilitate the surgical repair.

  14. Ankyloglossia with cleft lip: A rare case report.

    PubMed

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development.

  15. Ankyloglossia with cleft lip: A rare case report

    PubMed Central

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  16. 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.

  17. PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

    PubMed

    Chincharadze, S; Vadachkoria, Z; Mchedlishvili, I

    2017-01-01

    Cleft lip and palate take significant place in congenital malformations. We aimed to study epidemiological peculiarities of these pathologies in Georgia for 2006-2015. We compared magnitude of its distribution with the data from 1981-1990. Prevalence of cleft lip and palate in Georgia in 2006-2015 was 0.95±0.04 per 1000 live births, while in 1981-1990- it was 1.05, i.e. in contrast to 1980's frequency of these pathological conditions decreased to some extent. Distribution of cleft lip and palate varies across the country regions. The most intensive spread has been observed in Mtskheta-Mtianeti region, where prevalence composed 2.28/1000. In the rest of the regions frequency of these pathologies is significantly lower. For instance, in Kakheti the rate is equal to 1,87/1000, in Kvemo Kartli - 1.56/1000, in Shida Kartli - 1.55/1000. In the rest of the regions prevalence rate is lower than the country average. It should be noted that in Tbilisi the rate is as low as 0.80/1000. The lowest level has been reported in Guria - 0.56/1000. Currently cleft lip with palate is the most frequently occurring anomaly in Georgia accounting for 39.8% of all congenital malformations. Cleft lip alone ranks the second - 36.1%, followed by cleft palate (24.1%). These pathologies are more frequent in boys than in girls. 60.3% of the cases are reported in males, in contrast to girls - 39.7% (p<0.01). Usually, cleft palate is the most common among girls, but in our case, it had higher prevalence among boys, 53.6% vs. 46,4%. Thus cleft lip and palate distribution in Georgia is characterized by epidemiological peculiarities, which should be considered in implementation of preventive measures.

  18. Upper Triangular Flap in Unilateral Cleft Lip Repair.

    PubMed

    Aranmolate, Segun; Aranmolate, Sheg O; Zeri, Richard S; Gbeneol, Tom; Ajani, Abduwahab O

    2016-05-01

    In this article, the authors describe their use of the upper triangular flap method to repair unilateral cleft lips in 250 patients with cosmetically appealing and predictable results. This method produces a straight philtral column scar that is parallel to the noncleft side and hides the surgical scars on the medial aspect of the nostril and in the lip-columellar crease. The first step is to assign the reference points along the vermilion border and the nostril sills. It is important to identify the nostril sill on the cleft nose, which could be particularly attenuated in wide clefts. Next, the upper triangular flap is designed on the upper part of the cleft side, having made allowance for the sillo-columellar distance. The dissections are performed along the drawn line joining functional points. The repair begins from the floor of the nostril, where the "neo-sill" is sutured directly opposite to the noncleft sill. The sillo-columellar distance (s-c) must be reestablished and the small triangular flap is not dissected into 3 layers to avoid devitalizing the skin. The muscle layers are identified, approximated, and held on stay sutures, which are tied in sequence. In this work, the authors identify the apparent lip length and the real lip length. It must be noted that the correction for shortening of the cleft philtral column is done on the real lip length by all other methods used for unilateral cleft lip repair, including our upper triangular flap method. On the basis of its simplicity and their postoperative results, the authors believe this approach offers further insight into cleft lip repair.

  19. Preoperative lip measurement in patients with complete unilateral cleft lip/palate and its comparison with norms.

    PubMed

    Chou, Pang-Yun; Luo, Chih-Cheng; Chen, Philip Kuo-Ting; Chen, Yu-Ray; Samuel Noordhoff, M; Lo, Lun-Jou

    2013-04-01

    There is prominent lip asymmetry in patients with unilateral complete cleft lip and palate. Measurement of the lip on cleft and non-cleft sides provides appraisal of the lip deformity and information for planning of surgical correction. The purpose of this retrospective study is to evaluate the degree of lip deformity and to compare it with normative data. From 1983 to 1997, data from a total of 168 patients with unilateral complete cleft lip and palate were collected. There were no other associated craniofacial anomalies in this patient group. The measurement was performed under general anaesthesia by a senior surgeon using a calliper prior to the first lip repair. Corresponding normative data were collected from 2002 to 2003 on 50 patients who had normal facial appearance prior to hernia repair. The measurements included lip height, lip width, philtrum length and vermilion thickness. Comparisons were made between the cleft side and the non-cleft side, as well as between cleft patients and norms. Comparisons between the cleft and the non-cleft sides revealed significantly longer lip on the non-cleft side, including lip height from alar base to Cupid's bow, lip width from Cupid's bow to commissure and the vermilion thickness. The lip measurements on the norms were longer than those on the cleft side of the lip, but were similar to the non-cleft side. A wide variety of tissue growth asymmetry is observed between the non-cleft and the cleft sides, indicating a deficiency of tissue development associated with the cleft deformity. These data can provide a fundamental basis for presurgical orthopaedic treatment, surgical planning, execution of surgery, postoperative assessment and may help to predict treatment outcome. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

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

    SciTech Connect

    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). 29 refs., 5 tabs.

  1. Influence of different palate repair protocols on facial growth in unilateral complete cleft lip and palate.

    PubMed

    Xu, Xue; Kwon, Hyuk-Jae; Shi, Bing; Zheng, Qian; Yin, Heng; Li, Chenghao

    2015-01-01

    To address the question of whether one- or two-stage palatal treatment protocol has fewer detrimental effects on craniofacial growth in patients aged 5 years with unilateral complete cleft lip and palate. Forty patients with non-syndromic unilateral complete cleft lip and palate (UCCLPs) who had received primary cleft lip repair at age 6-12 months and cleft palate repair at age 18-30 months were selected in this study. Eighteen UCCLP patients who received two-stage palate repair were selected as group 1, and 22 UCCLP patients who received one-stage palate repair were selected as group 2. The control group consisted of 20 patients with unilateral incomplete cleft lip (UICL patients) whose age and gender matched with UCCLP patients. A one-sample Kolmogorov-Smirnov test was used to analyze the nature of data distribution. Bonferroni test and Kruskal-Wallis H tests were used for multiple comparisons. Both case groups showed reduced maxillary sagittal length (ANS-PMP, A-PM, p < 0.05) and retrusion of the maxilla (S-Ptm, p < 0.05), A point and ANS point (Ba-N-A, Ba-N-ANS, p < 0.05). Patients treated with two-stage palate repair had a reduced posterior maxillary vertical height (R-PMP, p < 0.05). Our results indicated that maxillary sagittal length and position could be perturbed by both one- and two-stage palate repair. Vomer flap repair inhibited maxilla vertical growth. Delayed hard palate repair showed less detrimental effects on maxillary growth compared to early hard palate repair in UCCLP patients aged 5 years. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  2. Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, Andrew E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

    2009-01-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, i.e., individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% versus 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. PMID:19921634

  3. Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate.

    PubMed

    Neiswanger, Katherine; Walker, K; Chirigos, Kevin W; Klotz, Cherise M; Cooper, Margaret E; Bardi, Kathleen M; Brandon, Carla A; Weinberg, Seth M; Vieira, Alexandre R; Martin, Rick A; Czeizel, Andrew E; Castilla, Eduardo E; Poletta, Fernando A; Marazita, Mary L

    2009-12-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, that is, individuals with CL/P, their relatives, and unrelated controls-from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S. sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% vs. 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data.

  4. Structure and Function of the Superior Temporal Plane in Adult Males with Cleft Lip and Palate: Pathologic Enlargement with No Relationship to Childhood Hearing Deficits

    ERIC Educational Resources Information Center

    Shriver, A. S.; Canady, J.; Richman, L.; Andreasen, N. C.; Nopoulos, P.

    2006-01-01

    Background: In a previous study from our lab, adult males with non-syndromic cleft lip and/or palate (NSCLP) were shown to have significantly lower temporal lobe gray matter volume than matched controls. The current study was designed to begin a regional analysis of specific subregions of the temporal lobe. The superior temporal plane (STP) is a…

  5. Structure and Function of the Superior Temporal Plane in Adult Males with Cleft Lip and Palate: Pathologic Enlargement with No Relationship to Childhood Hearing Deficits

    ERIC Educational Resources Information Center

    Shriver, A. S.; Canady, J.; Richman, L.; Andreasen, N. C.; Nopoulos, P.

    2006-01-01

    Background: In a previous study from our lab, adult males with non-syndromic cleft lip and/or palate (NSCLP) were shown to have significantly lower temporal lobe gray matter volume than matched controls. The current study was designed to begin a regional analysis of specific subregions of the temporal lobe. The superior temporal plane (STP) is a…

  6. A descriptive epidemiology study of cleft lip and palate in Northern Finland.

    PubMed

    Lithovius, Riitta H; Ylikontiola, Leena P; Harila, Virpi; Sándor, George K

    2014-07-01

    The aim of this study was to determine the incidence of cleft lip and/or cleft palate in a population uniquely from Northern Finland. The records of a total of 214 cleft patients treated between 1998-2011 at the Oulu Cleft Lip and Palate Center at the University of Oulu were assessed on a retrospective basis. Data regarding cleft type, sex and side of cleft was collected and analyzed. Family history of clefting was investigated. Cleft palate (68.7%) was most frequently found, followed by cleft lip and palate (18.7%) and cleft lip with or without alveolus (12.6%). Cleft palate occurred more frequently in females (63.3%) and cleft lip and palate was more frequently found in males (62.5%). The left side was more frequently affected in both male and female patients. Left-sided clefts were observed in 82% of patients compared to right-sided clefts in 18%. A family history of clefting was detected in 20.1% of patients. The incidence of clefts in Northern Finland is higher than the corresponding incidence in other European countries. Cleft palate was the most frequent cleft type and it was more frequent in females. In males, cleft lip and palate was more frequent. The left side was more frequently affected in both genders. One fifth of the patients had a family history of clefts.

  7. 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.

  8. Use of octyl-2-cyanoacrylate in cleft lip repair.

    PubMed

    Magee, William P; Ajkay, Nicolas; Githae, Bernard; Rosenblum, Richard S

    2003-01-01

    Octyl-2-cyanoacrylate (Dermabond; Ethicon, Somerville, NJ) is a synthetic tissue adhesive recently approved for skin closure. This study was designed to assess its effectiveness for use in clefts lip repairs. Sixty-four patients with unilateral, bilateral, or midline cleft lip defects were repaired. The ages at repair ranged from 4 days to 19 months, with an average of 46.5 days. Follow-up ranged from 6 months to 3 years. No complications were found. Several advantages were observed: shorter operative time, formation of a protective barrier, simplified incision care, no need for suture removal, and improved scar outcome. This study supports octyl-2-cyanoacrylate as an alternative to skin sutures in primary cleft lip repair.

  9. Unilateral cleft lip and palate: Simultaneous early repair of the nose, anterior palate and lip

    PubMed Central

    Laberge, Louise Caouette

    2007-01-01

    Unilateral cleft lip and palate is a defect involving the lip, nose and maxilla. These structures are inter-related, and simultaneous early correction of all the aspects of the defect is necessary to obtain a satisfactory result that will be maintained with growth. The surgical technique combining various procedures is presented and compared with previously published reports. PMID:19554125

  10. Fetal Cleft Lip/Palate Surgery: End of a Dream?

    PubMed

    Ozturk, Sinan; Karagoz, Huseyin; Zor, Fatih; Inangil, Gökhan; Kara, Kemal

    2016-01-01

    Recognition that a fetus can scarlessly heal in intrauterine life led to various animal studies in the mid 1980s exploring the possibility of fetal cleft lip/palate surgery. The idea of scarless cleft repair seemed like a possible dream after the promising results from the early animal studies. In this review, we analyze the progress made in the 30 years since our first experience with animal models.

  11. Is cleft severity related to maxillary growth in patients with unilateral cleft lip and palate?

    PubMed

    Chiu, Yu-Ting; Liao, Yu-Fang

    2012-09-01

    To study the relationship of cleft severity and maxillary growth in patients with unilateral cleft lip and palate. A systematic literature review. A literature survey from the PubMed database from January 1966 to December 2008 used the Medical Subject Headings terms facial growth, unilateral cleft lip palate, cephalometry, and cleft severity or cleft width. The Cleft Palate-Craniofacial Journal from 1964 to November 2008 was hand searched. Studies published as full-length articles reporting quantitative data on the relationship of cleft severity and written in English were selected. Two reviewers selected and extracted the data independently and also assessed the quality of the studies. Four studies met the selection criteria and were included in the review. All were retrospective and longitudinal. Quality analysis revealed medium to low level of the included studies. Heterogeneity of the studies prevented major conclusions about the relationship of a severe cleft and unfavorable maxillary forward growth. The review has highlighted the importance of further research. Further well-designed controlled studies and long-term studies are needed, and researchers have to consider combined assessment of cleft size and palate size. Further studies should also focus on the cleft severity at birth and at the time of palate repair.

  12. Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting

    PubMed Central

    Liu, Huan; Leslie, Elizabeth J.; Carlson, Jenna C.; Beaty, Terri H.; Marazita, Mary L.; Lidral, Andrew C.; Cornell, Robert A.

    2017-01-01

    Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we describe a versatile, functional pipeline and apply it to SNPs at 1p22, a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/P). First we amplified DNA elements containing the ten most-highly risk-associated SNPs and tested their enhancer activity in vitro, identifying three SNPs with allele-dependent effects on such activity. We then used in vivo reporter assays to test the tissue-specificity of these enhancers, chromatin configuration capture to test enhancer–promoter interactions, and genome editing in vitro to show allele-specific effects on ARHGAP29 expression and cell migration. Our results further indicate that two SNPs affect binding of CL/P-associated transcription factors, and one affects chromatin configuration. These results translate risk into potential mechanisms of pathogenesis. PMID:28287101

  13. Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.

    PubMed

    Liu, Huan; Leslie, Elizabeth J; Carlson, Jenna C; Beaty, Terri H; Marazita, Mary L; Lidral, Andrew C; Cornell, Robert A

    2017-03-13

    Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we describe a versatile, functional pipeline and apply it to SNPs at 1p22, a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/P). First we amplified DNA elements containing the ten most-highly risk-associated SNPs and tested their enhancer activity in vitro, identifying three SNPs with allele-dependent effects on such activity. We then used in vivo reporter assays to test the tissue-specificity of these enhancers, chromatin configuration capture to test enhancer-promoter interactions, and genome editing in vitro to show allele-specific effects on ARHGAP29 expression and cell migration. Our results further indicate that two SNPs affect binding of CL/P-associated transcription factors, and one affects chromatin configuration. These results translate risk into potential mechanisms of pathogenesis.

  14. Unilateral Cleft Lip: Principles and Practice of Surgical Management

    PubMed Central

    Tse, Raymond

    2012-01-01

    Management of cleft lip and palate requires a unique understanding of the various dimensions of care to optimize outcomes of surgery. The breadth of treatment spans multiple disciplines and the length of treatment spans infancy to adulthood. Although the focus of reconstruction is on form and function, changes occur with growth and development. This review focuses on the surgical management of the primary cleft lip and nasal deformity. In addition to surgical treatment, the anatomy, clinical spectrum, preoperative care, and postoperative care are discussed. Principles of surgery are emphasized and controversies are highlighted. PMID:24179447

  15. Alar web in cleft lip nose deformity: study in adult unilateral clefts.

    PubMed

    Agarwal, Rajiv; Chandra, Ramesh

    2012-09-01

    The correction of alar webbing in unilateral cleft lip nose deformity is challenging because of progressive distortions in the alar web region during the period of growth. Alar webbing is a persistent universal deformity in both the primary and secondary cleft lip noses. The purpose of this article is to study the alar web deformity in adult patients with unilateral cleft lip noses. Twenty-five patients aged 13 years and older presenting with unilateral cleft nasal deformity were included. Preoperative and postoperative measurements of the nose, along with detailed intraoperative recording of the deformed anatomy, were done. Preoperative magnetic resonance imaging was also done in selected cases. Transcolumellar open rhinoplasty was performed in all the cases, and nasal septal straightening with centralization was done. Cleft alar base augmentation was done using bone graft to restore symmetry of the nasal tripod. Both the cleft and noncleft alar cartilages were extensively mobilized from the skin and mucosal sides. The overgrown and caudally slumped cleft-side alar cartilage was resected caudally and was then resuspended in a symmetrical position with the noncleft alar cartilage. A midline-strut septal cartilage extension graft was used to restore the tip aesthetics. The skin overlying the alar web was in-rolled after semilunar cartilage resection, and skin excision was also done to restore symmetry with the opposite vestibule. The remaining secondary cleft nasal and lip deformities were corrected depending upon the specific presenting pathologic abnormality. The cleft alar cartilage was found to be caudally displaced in all the cases. The caudal border of the lateral crus was prolapsing in the cavity of the vestibule on the superomedial aspect and was tenting the skin in the area of the weak triangle, producing the characteristic alar web deformity. In the study group, the maximum width of the cleft alar cartilage at the level of the lateral crus was increased by

  16. Protocols in Cleft Lip and Palate Treatment: Systematic Review

    PubMed Central

    de Ladeira, Pedro Ribeiro Soares; Alonso, Nivaldo

    2012-01-01

    Objectives. To find clinical decisions on cleft treatment based on randomized controlled trials (RCTs). Method. Searches were made in PubMed, Embase, and Cochrane Library on cleft lip and/or palate. From the 170 articles found in the searches, 28 were considered adequate to guide clinical practice. Results. A scarce number of RCTs were found approaching cleft treatment. The experimental clinical approaches analyzed in the 28 articles were infant orthopedics, rectal acetaminophen, palatal block with bupivacaine, infraorbital nerve block with bupivacaine, osteogenesis distraction, intravenous dexamethasone sodium phosphate, and alveoloplasty with bone morphogenetic protein-2 (BMP-2). Conclusions. Few randomized controlled trials were found approaching cleft treatment, and fewer related to surgical repair of this deformity. So there is a need for more multicenter collaborations, mainly on surgical area, to reduce the variety of treatment modalities and to ensure that the cleft patient receives an evidence-based clinical practice. PMID:23213503

  17. Important aspects of oral lining in unilateral cleft lip repair.

    PubMed

    Baek, Rong-Min; Lee, Sang Woo

    2009-09-01

    To achieve an aesthetic lip in cleft lip repair, central fullness and slight eversion of the vermilion are necessary. If only cutaneous anthropometric length is considered, symmetry and good vermilion contour may be obtained, but a seemingly tightness of the lip can occur. To prevent this, it is necessary to obtain sufficient central mucosal tissue of the oral lining.The authors used 2 methods to obtain adequate tissue of the central area of the oral lining. First, the mucosa of the central area of the oral lining was supplemented using a medial mucosal flap, and the amount of superfluous tissue was minimized. Second, a relaxing incision was placed at the oral lining of the lateral flap, which was subsequently centrally advanced.A total of 389 patients with a unilateral cleft lip underwent surgery using these methods and achieved satisfactory results. Occasional cases of lateral vermilion bulging were encountered during long-term follow-up, but these were easily corrected by bulging excision.Consideration of the oral lining is essential in cleft lip repair. The authors were able to reconstruct an aesthetically pleasing lip with central fullness by obtaining an adequate amount of tissue in the central area of oral lining.

  18. [Median cleft of the upper lip. Apropos of 3 cases. The Association for the Study of Facial Clefts].

    PubMed

    Vanrenterghem, L; Joly, B; Podvin, A; Poupart; Bayart, M

    1993-01-01

    The authors report three cases of Median Cleft of the upper lip, a clinical entity really deserving the term of "hare lip", a very ancient denomination who dates back to the Tang Dynasty and unfairly used to describe the usual lateral clefts of the lip. The denominations of "true" and "false" median cleft lips recovering respectively such different embryopathic realities as clefts of the median element with varying degrees of vertical separation and as agenesis of the fronto-nasal process accompanied with cerebral anomalies are no more used now. Median clefts of the upper lip can be included in the "neurocristopathies" by less or more precocious dysneurulation of the fronto-nasal process creating anomalies from various single midline defects of the upper lip of our three cases, to associated midline defects like in the Median Cleft face syndrome (fronto-nasal dysplasia) described by De Myer and Sedano to holoprosencephaly (arhinencephaly), which are rarely associated.

  19. CIRPLAST: Cleft Lip and Palate Missions in Peru.

    PubMed

    Navarro, Carlos E

    2015-06-01

    The author presents a 20-year experience leading cleft lip and palate surgical volunteer missions in Peru for CIRPLAST, a nonprofit volunteer plastic surgery goodwill program that has provided free surgery for patients with cleft lip and palate deformities in remote areas of Peru. Surgical procedures were performed by the author, together with a group of experienced plastic surgeons, under the auspices of the Peruvian Plastic Surgery Society, and local health authorities. CIRPLAST missions are scheduled annually in different locations around Peru. Selected patients for surgery after adequate screening are photographed, and their cleft deformity is recorded. Scheduled patients or their parents, when they are minors, sign an informed consent form. Patients operated on in any given day are examined and photographed 1 day after surgery, before discharge. Between 30 and 35 patients are operated on at each mission site. About 2 weeks after the mission, patients are checked and photographed, and the outcome of surgery is recorded. Complications that may occur are recorded and treated by the CIRPLAST team as soon as possible. Almost all operations are performed under general endotracheal anesthesia coupled by local anesthesia containing a vasoconstrictor, to reduce bleeding and facilitate tissue dissection. All wounds of the lip and palate are closed with absorbable sutures, to avoid the need for suture removal. After cleft lip surgery, patients go to the recovery room for monitoring by nurses until they recover completely. A total of 6108 cleft lip and palate repairs, primary and secondary, were performed by CIRPLAST in 141 missions, between May 12, 1994, and October 15, 2014. The medical records of the 5162 patients (84.5%) who returned for follow-up (ranging from 12 days to 9 years) were reviewed retrospectively. Between 45% and 70% of the patients operated on a mission have returned for early follow-up and some the following year. There were 3176 males (51.9%) and 2932

  20. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

    PubMed

    Osoegawa, K; Vessere, G M; Utami, K H; Mansilla, M A; Johnson, M K; Riley, B M; L'Heureux, J; Pfundt, R; Staaf, J; van der Vliet, W A; Lidral, A C; Schoenmakers, E F P M; Borg, A; Schutte, B C; Lammer, E J; Murray, J C; de Jong, P J

    2008-02-01

    We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritization software. We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies.

  1. Occipital meningoencephalocele with Cleft Lip, Cleft Palate and Limb Abnormalities- A Case Report.

    PubMed

    Ganapathy, Arthi; T, Sadeesh; Swer, Mary Hydrina; Rao, Sudha

    2014-12-01

    A 21-week-old still born female fetus with occipital encepholocele, cleft lip and cleft palate was received from the Department of Obstetrics and Gynecology, Mahatma Gandhi Medical College and Research Institute, Pondicherry and was studied in detail. It was born to Primigravida, of a second degree consanguineous marriage, with unremarkable family history. The biometric measurements were noted which corresponded to the age of the fetus. Further the fetus was embalmed and dissected. On examination an encephalocele of 2.7×1.5 cm was seen in the occipital region with a midline defect in the occipital bone and herniated brain tissue. Other anomalies observed were right unilateral cleft lip, right cleft palate, and bilateral syndactyly of the lower limbs and associated Congenital Talipus Equino Varus of the right foot. Other internal organs were developed appropriate for the age of the fetus.

  2. Occipital meningoencephalocele with Cleft Lip, Cleft Palate and Limb Abnormalities- A Case Report

    PubMed Central

    T, Sadeesh; Swer, Mary Hydrina; Rao, Sudha

    2014-01-01

    A 21-week-old still born female fetus with occipital encepholocele, cleft lip and cleft palate was received from the Department of Obstetrics and Gynecology, Mahatma Gandhi Medical College and Research Institute, Pondicherry and was studied in detail. It was born to Primigravida, of a second degree consanguineous marriage, with unremarkable family history. The biometric measurements were noted which corresponded to the age of the fetus. Further the fetus was embalmed and dissected. On examination an encephalocele of 2.7×1.5 cm was seen in the occipital region with a midline defect in the occipital bone and herniated brain tissue. Other anomalies observed were right unilateral cleft lip, right cleft palate, and bilateral syndactyly of the lower limbs and associated Congenital Talipus Equino Varus of the right foot. Other internal organs were developed appropriate for the age of the fetus. PMID:25653933

  3. Treatment outcome after neonatal cleft lip repair in 5-year-old children with unilateral cleft lip and palate.

    PubMed

    Košková, Olga; Vokurková, Jitka; Vokurka, Jan; Bryšova, Alena; Šenovský, Pavel; Čefelínová, Julie; Lukášová, Darina; Dorociaková, Petra; Abelovský, Juraj

    2016-08-01

    The aim of this study was to assess speech outcomes and dental arch relationship of 5-year-old Czech patients with unilateral cleft lip and palate (UCLP) who have undergone neonatal cleft lip repair and one-stage palatal closure. Twenty-three patients with UCLP, born between 2009 and 2010, were included in the study. Three universal speech parameters (hypernasality, articulation and speech intelligibility) have been devised for speech recordings evaluation. Outcomes of dental arch relationship were evaluated by applying the GOSLON Yardstick and subsequently compared with the GOSLON outcome of other cleft centers. Moderate hypernasality was present in most cases, the mean value for articulation and speech intelligibility was 2.07 and 1.93, respectively. The Kappa values for inter-examiner agreement for all the three speech outcomes ranged from 0.786 to 0.808. Sixty-three percent of patients were scored GOSLON 1 and 2, 26% GOSLON 3, and 10% GOSLON 4. GOSLON mean score was 2.35. Interrater agreement was very good, represented by kappa value of 0.867. The treatment protocol, involving neonatal cleft lip repair and one-stage palatal repair performed up to the first year of UCLP patient's life, has shown good speech outcomes and produced very good treatment results in regard to maxillary growth, comparable with other cleft centers. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Congenital missing permanent teeth in Korean unilateral cleft lip and alveolus and unilateral cleft lip and palate patients.

    PubMed

    Baek, Seung-Hak; Kim, Na-Young

    2007-01-01

    To investigate the differences in the congenital missing teeth pattern in terms of tooth type (permanent maxillary lateral incisor [MLI] and maxillary second premolar [MSP]) and sidedness (cleft vs noncleft) between boys and girls in Korean unilateral cleft lip and alveolus (UCLA) and unilateral cleft lip and palate (UCLP) patients. This study used the charts, models, radiographs, and intraoral photographs of 90 UCLA patients and 204 UCLP patients (ages 6 to 13 years). Binomial test, chi-square test, Fisher exact test, maximum likelihood analysis of variance, and the odds ratio were performed. According to the relationship between the congenital missing teeth pattern and the cleft type, the UCLP patients had 2.98 times more missing MLIs and 1.80 times more missing MSPs than did the UCLA patients. The MLI was congenitally missing more in boys than in girls, but the MSP showed the opposite tendency. Boys had a higher frequency of congenital missing MLIs and MSPs on the cleft side than did girls. However, on the noncleft side and both sides, girls had a higher frequency of congenital missing MLIs and MSPs than did boys. Results showed a gender-dominant pattern of congenital missing MLIs and MSPs. These results suggest that gender and cleft type might affect the congenital missing teeth pattern in terms of tooth type and sidedness.

  5. Effect of lip closure on early maxillary growth in patients with cleft lip and palate.

    PubMed

    Rousseau, Pascal; Metzger, Marc; Frucht, Sibylle; Schupp, Wipke; Hempel, Mareike; Otten, Jörg-Elard

    2013-01-01

    Debate continues about the cause of midfacial growth disturbance in patients with facial clefts. To evaluate the functional effect of surgical closure of the lip before palatal closure according to the technique by Delaire on early maxillary growth in patients with complete unilateral cleft lip and palate. Twenty-two patients with unilateral cleft lip and palate were studied using plaster casts obtained at the time of cheilorhinoplasty and 6 months later before palatal closure. The interrupted lateral muscles were anatomically repositioned using the surgical technique by Delaire. No patients had received preoperative orthodontic treatment or a passive palatal plate. Cast analyses were performed using a digital caliper. Landmark positioning was performed 3 times by 2 different examiners to define intraobserver and interobserver differences. The final maxilla dimensions were recorded as the distances between the mean landmark positions. Using the t test, dimensions obtained before palatal closure were compared with dimensions obtained before lip closure. The method allowed good reproducibility. Functional closure of the lip significantly narrowed the transverse anterior cleft areas by -2.36 mm (P < .05). Sagittal variables were increased by 1.68 mm on the nonaffected side and by 1.48 mm on the affected side (P < .05 for both). Functional closure according to the technique by Delaire narrows the transverse dimensions of the maxilla, while simultaneously preserving initial sagittal growth. 4.

  6. Primary and revision cleft lip repairs using octyl-2-cyanoacrylate.

    PubMed

    Cooper, Joshua M; Paige, Keith T

    2006-03-01

    The purpose of our retrospective review is to examine our method and outcomes for the application of octyl-2-cyanoacrylate for the repair of primary and revision cleft lips in both pediatric and adult patients. Records and photographs were reviewed and analyzed for patient age, type of cleft, revision or primary repair, complications, length of follow-up, and aesthetic outcomes. Eighteen patients, both children and adults, who underwent cleft lip repairs using tissue adhesive performed by a single surgeon between 1999 and 2003 were included. Twelve patients underwent primary repair and 6 patients underwent revision repair. Repairs were performed using the Millard rotation advancement technique and the Mohler variant. The lateral advancement flap was kept long and redundant in its transverse dimension to create a pressure fit everting the skin edges with minimal sutures to set up the closure for application of the tissue adhesive. Seventeen of eighteen patients had excellent cosmetic outcomes. One patient had minor necrosis of the tip of the advancement flap. No allergic reactions, wound infections, or dehiscences occurred. The use of octyl-2-cyanoacrylate for the skin closure of primary and revision cleft lip repairs in both children and adults results in excellent cosmetic outcomes. Employing our pressure-fit technique for skin eversion prior to application of the tissue adhesive may be advantageous. The lack of suture removal in the pediatric population and decreased operative time are additional benefits.

  7. Sagittal maxillary growth pattern in unilateral cleft lip and palate patients with unrepaired cleft palate.

    PubMed

    Chen, Zhen-Qi; Wu, Jun; Chen, Rong-Jing

    2012-03-01

    The objective of the study was to examine the sagittal maxillary growth pattern during the mixed and permanent dentition in unilateral cleft lip and palate (UCLP) patients with unrepaired cleft palate. A total of 30 nonsyndromic UCLP patients with unrepaired cleft palate were included, 15 of whom were in mixed dentition and 15 in permanent dentition.Cephalograms were analyzed and compared in the patients with UCLP who have operatively undergone repair with both the lip and palate as well as normal subjects. The UCLP patients with unrepaired cleft palate in mixed dentition showed decreased anterior-posterior length of the maxilla. The UCLP patients with unrepaired cleft palate in permanent dentition demonstrated an almost normal maxillary growth. The operated-on patients both in mixed and permanent dentitions showed maxillary retrusion as well as decreased maxillary length. There appears that there may be the potential normal maxillary growth in UCLP patients, and early surgical repair of the cleft palate may affect sagittal maxillary growth pattern in patients with cleft.

  8. Alveolar bone grafting with simultaneous cleft lip rhinoplasty.

    PubMed

    Kim, Young-Eun; Han, Jihyeon; Baek, Rong-Min; Kim, Baek-Kyu

    2016-11-01

    Optimal timing for cleft lip rhinoplasty is controversial. Definitive rhinoplasty is deferred until facial skeletal growth is completed. Intermediate rhinoplasty is performed after stabilization of the grafted alveolar bone, because the grafted bone tends to be absorbed over several months postoperatively, distorting the nasal profile. Here, we report our experience with simultaneous rhinoplasty during alveolar bone grafting for indicated patients, describe our surgical technique that ensures long-term bone graft survival, and report graft take rates and nasal profile changes. This retrospective chart review included a total of 54 patients; 44 underwent alveolar bone grafting only, and 10 underwent simultaneous cleft lip rhinoplasty. All surgeries were conducted with a judicious mucosal incision for tensionless wound closure. Bone graft take was evaluated with dental radiographs by the Bergland classification. Further, nasal aesthetic outcome was evaluated with medical photographs, based on nostril height and width and alar base width. In total, 96.3% of clefts showed graft success with Type I (66.7%) or Type II (27.8%) classifications; only 3.7% of clefts showed unfavorable results classified as Type III, and no clefts showed Type IV failure. The nasal shape was flatter with a decreased nostril height and increased nostril width after alveolar bone grafting, while nostril height was increased and nostril width was decreased in patients who underwent simultaneous rhinoplasty. With surgical techniques ensuring alveolar bone graft survival, simultaneous cleft lip rhinoplasty can result in nasal aesthetic improvement for patients with severe nasal deformities, decreasing the number of operations. Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  9. Initial cleft severity and maxillary growth in patients with complete unilateral cleft lip and palate.

    PubMed

    Chiu, Yu-Ting; Liao, Yu-Fang; Chen, Philip Kuo-Ting

    2011-08-01

    Initial cleft severity in patients with complete unilateral cleft lip and palate (UCLP) varies. This is reflected in the sizes of the cleft and the palate. The purpose of this retrospective study was to establish whether there is a relationship between cleft severity at birth and growth of the maxilla. Maxillary dental casts of 29 infants with nonsyndromic complete UCLP were used to measure the sizes of the cleft and the palate. The later growth of the maxilla was determined by using cephalometric radiographs taken at age 9. Statistical analyses were performed with multiple linear regression. The results showed a relationship between cleft area and maxillary protrusion (SNA, P <0.05). Also, there was a relationship between palate area and maxillary width (P <0.05). These data suggest that in patients with complete UCLP there is a significant relationship between initial cleft severity and maxillary growth. Patients with a small cleft area have a more protruded maxilla than do those with a large cleft area. Patients with a large palate area have a wider maxilla than those with a small palate area. Copyright © 2011 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  10. Description of total population hospital admissions for cleft lip and/or palate in Australia.

    PubMed

    Lo, Jonathan Y J; Kilpatrick, Nicky; Jacoby, Peter; Slack-Smith, Linda M

    2015-12-07

    Orofacial clefts are a group of frequently observed congenital malformations often requiring multiple hospital admissions over the lifespan of affected individuals. The aim of this study was to describe the total-population hospital admissions with principal diagnosis of cleft lip and/or palate in Australia over a 10 year period. Data for admissions to hospitals were obtained from the Australian Institute of Health and Welfare National Hospital Morbidity Database (July 2000 to June 2010). The outcome variable was a hospital separation with the principal diagnosis of cleft palate, cleft lip or cleft lip and palate (ICD-10-AM diagnosis codes Q35-Q37 respectively). Trends in rates of admission and length of stay by age, gender and cleft type were investigated. A total of 11, 618 admissions were identified; cleft palate (4,454; 0.22 per 10,000 people per year), cleft lip (2,251; 0.11) and cleft lip and palate (4,913; 0.25). Admission age ranged from birth to 79 years with males more frequently admitted. Most admissions occurred prior to adolescence in cleft palate and cleft lip and through to late teens in cleft lip and palate, declining for all groups after 25 years. This study identified population level trends in hospital separations for orofacial cleft diagnosis in Australia.

  11. Surgical management of cleft lip in pedo-patients.

    PubMed

    Taware, C P; Kulkarni, S R

    1991-01-01

    The Present article describes in short etiology of cleft lip and cleft palate. With this in-born defect, patient develops crucial problems with feeding, phonation, overall growth and development of affected and allied soft and hard tissue structures. This in turn results in deformity and asymmetry which is going to affect functional requirements as well as aesthetic outlook. Hence it really becomes mandatory to correct this defect surgically as early as possible, at stipulated timings so as to avoid present and future anticipated problems.

  12. Isolated cleft lip with generalized aggressive periodontitis: A rare entity

    PubMed Central

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

    Oro-facial clefts are one of the most common birth defects and may be associated with other genetic anomalies. Aggressive periodontitis is a rare condition that progresses rapidly, but affects only a small percentage of the population. Most of the cases of aggressive periodontitis are familial. Even though, literature has documented the association of various genetic disorders with aggressive periodontitis, the aggressive periodontitis in patients with isolated cleft lip (CL) have never been addressed. Here, we report a rare case of isolated CL with generalized aggressive periodontitis. The concomitant presentation of isolated CL with aggressive periodontitis in an individual has clinical significance for multi-disciplinary care. PMID:25810600

  13. Development of the Object Permanence Concept in Cleft Lip and Palate and Noncleft Lip and Palate Infants.

    ERIC Educational Resources Information Center

    Pecyna, Paula M.; And Others

    1987-01-01

    The development of the concept of object permanence was investigated with eight infants with cleft lip/palate and four nonimpaired infants. Superior performance of the cleft lip/palate group was found, possibly due to increased environmental stimulation provided by parents. (DB)

  14. Development of the Object Permanence Concept in Cleft Lip and Palate and Noncleft Lip and Palate Infants.

    ERIC Educational Resources Information Center

    Pecyna, Paula M.; And Others

    1987-01-01

    The development of the concept of object permanence was investigated with eight infants with cleft lip/palate and four nonimpaired infants. Superior performance of the cleft lip/palate group was found, possibly due to increased environmental stimulation provided by parents. (DB)

  15. 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.

  16. Receptive and expressive language performance in children with and without Cleft Lip and Palate.

    PubMed

    Lamônica, Dionísia Aparecida Cusin; Silva-Mori, Mariana Jales Felix da; Ribeiro, Camila da Costa; Maximino, Luciana Paula

    2016-01-01

    To compare the performance in the abilities of receptive and expressive language of children with cleft lip and palate with that of children without cleft lip and palate with typical 12 to 36-month chronological development. The sample consisted of 60 children aged 12 and 36 months: 30 with cleft lip and palate diagnosis and 30 without cleft lip and palate diagnosis with typical development. The groups were paired according to gender, age (in months), and socioeconomic level. The procedures consisted of analysis of medical records, anamnesis with family members, and valuation of the Early Language Milestone Scale (ELMS). The chart analysis showed 63.34% of the children with unilateral cleft lip and palate, 16.66% with bilateral incisive transforamen cleft, and 20% with post-foramen cleft. Children with cleft lip and palate underwent surgeries (lip repair and/or palatoplasty) at the recommended ages and participated in early intervention programs; 40% presented recurrent otitis history, and 50% attended schools. Statistical analysis included the use of the Mann Whitney test with significance level of p <0.05. There was a statistically significant difference between the groups regarding receptive and expressive skills. The group of children with cleft lip and palate showed statistically significant low performance in receptive and expressive language compared with children without cleft lip and palate.

  17. The Epidemiology of Cleft Lip and Palate in Canada, 1998 to 2007.

    PubMed

    Matthews, Jennifer L K; Oddone-Paolucci, Elizabeth; Harrop, Robertston A

    2015-07-01

    To examine the birth prevalence, gender distribution, and pattern of surgical intervention for clefts in Canada (1998 to 2007). Also to highlight the difficulties associated with studying the epidemiology of clefts using the current data collection mechanisms. Epidemiologic data acquired from the Canadian Institute for Health Information. Population-based study in Canada 1998 to 2007. All live births with an International Classification of Diseases (9th or 10th revision) diagnostic code for cleft palate or for cleft lip with or without cleft palate or with a surgical intervention code for repair of cleft lip or cleft palate. Birth prevalence, gender distribution, and pattern of surgical intervention. There were 3,015,325 live births in Canada (1998 to 2007). The mean birth prevalence was 0.82 per 1000 live births for cleft lip with or without cleft palate and 0.58 per 1000 live births for cleft palate. The birth prevalence of cleft lip with or without cleft palate was significantly higher in boys, with a stable boy to girl ratio of 1.75:1. Cleft palate was significantly greater in girls; however, the boy to girl ratio decreased from 0.97:1 in 1998 to 0.59:1 in 2007. The median age of repair in Canada from 1998 to 2007 was 4.7 months for cleft lip and 11.6 months for cleft palate. Thirty percent of patients underwent cleft palate repair after age 1. The birth prevalence of cleft palate and cleft lip with or without cleft palate is stable in Canada. An increasing birth prevalence of cleft palate in girls is suggested. The timing of surgical intervention is consistent with current standards. The challenges associated with collecting these data in Canada are discussed.

  18. Facial tissue depths in children with cleft lip and palate.

    PubMed

    Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

    2015-03-01

    Cleft lip and palate (CLP) is a craniofacial malformation affecting more than seven million people worldwide that results in defects of the hard palate, teeth, maxilla, nasal spine and floor, and maxillodental asymmetry. CLP facial soft-tissue depth (FSTD) values have never been published. The purpose of this research is to report CLP FSTD values and compare them to previously published FSTD values for normal children. Thirty-eight FSTDs were measured on cone beam computed tomography images of CLP children (n = 86; 7-17 years). MANOVA and ANOVA tests determined whether cleft type, age, sex, and bone graft surgical status affect tissue depths. Both cleft type (unilateral/bilateral) and age influence FSTDs. CLP FSTDs exhibit patterns of variation that differ from normal children, particularly around the oronasal regions of the face. These differences should be taken into account when facial reconstructions of children with CLP are created.

  19. Speech outcome in unilateral complete cleft lip and palate patients: a descriptive study.

    PubMed

    Rullo, R; Di Maggio, D; Addabbo, F; Rullo, F; Festa, V M; Perillo, L

    2014-09-01

    In this study, resonance and articulation disorders were examined in a group of patients surgically treated for cleft lip and palate, considering family social background, and children's ability of self monitoring their speech output while speaking. Fifty children (32 males and 18 females) mean age 6.5 ± 1.6 years, affected by non-syndromic complete unilateral cleft of the lip and palate underwent the same surgical protocol. The speech level was evaluated using the Accordi's speech assessment protocol that focuses on intelligibility, nasality, nasal air escape, pharyngeal friction, and glottal stop. Pearson product-moment correlation analysis was used to detect significant associations between analysed parameters. A total of 16% (8 children) of the sample had severe to moderate degree of nasality and nasal air escape, presence of pharyngeal friction and glottal stop, which obviously compromise speech intelligibility. Ten children (10%) showed a barely acceptable phonological outcome: nasality and nasal air escape were mild to moderate, but the intelligibility remained poor. Thirty-two children (64%) had normal speech. Statistical analysis revealed a significant correlation between the severity of nasal resonance and nasal air escape (p ≤ 0.05). No statistical significant correlation was found between the final intelligibility and the patient social background, neither between the final intelligibility nor the age of the patients. The differences in speech outcome could be explained with a specific, subjective, and inborn ability, different for each child, in self-monitoring their speech output.

  20. 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.

  1. Can we predict a difficult intubation in cleft lip/palate patients?

    PubMed

    Arteau-Gauthier, Isabelle; Leclerc, Jacques E; Godbout, Audrey

    2011-10-01

    To find predictors of a difficult intubation in infants with an isolated or a syndromic cleft lip/palate. Retrospective review: single-blind trial. Tertiary care centre. A total of 145 infants born with cleft lip/palate were enrolled. Three clinical and seven lip/palate anatomic parameters were evaluated. The grade of intubation was determined by the anesthesiologist at the time of the labioplasty/staphylorrhaphy surgery at 3 and 10 months, respectively. Intubation grade. The relative risk of a difficult intubation in the cleft lip, cleft palate without the Pierre Robin sequence, cleft lip-palate, and cleft palate with Pierre Robin sequence groups was 0, 2.7, 10, and 23%, respectively. The infants born with the Pierre Robin sequence had a statistically significant higher intubation grade. The degree of difficulty was increased in cases with early airway and feeding problems (p < .0001). Within the group of cleft palate patients without any lip malformation, a wider cleft was associated with a higher intubation grade with statistical significance (p  =  .0323). Infants born with Pierre Robin sequence have a statistically significantly higher risk of difficult intubation. Within this group, of all the studied factors, a clinical history of early airway and feeding problems was the best predictor of a difficult endotracheal intubation. In cleft palate patients without any cleft lip, larger width of the cleft is also a significant predictor.

  2. Association between maternal smoking, gender, and cleft lip and palate.

    PubMed

    Martelli, Daniella Reis Barbosa; Coletta, Ricardo D; Oliveira, Eduardo A; Swerts, Mário Sérgio Oliveira; Rodrigues, Laíse A Mendes; Oliveira, Maria Christina; Martelli Júnior, Hercílio

    2015-01-01

    Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. To assess the relationship between maternal smoking, gender and CL/P. This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: mothers of children with CL/P (n=843) and mothers of children without CL/P (n=676). All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR=3.51; 95% CI 2.83-4.37). By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  3. Presurgical cleft lip and palate orthopedics: an overview

    PubMed Central

    Alzain, Ibtesam; Batwa, Waeil; Cash, Alex; Murshid, Zuhair A

    2017-01-01

    Patients with cleft lip and/or palate go through a lifelong journey of multidisciplinary care, starting from before birth and extending until adulthood. Presurgical orthopedic (PSO) treatment is one of the earliest stages of this care plan. In this paper we provide a review of the PSO treatment. This review should help general and specialist dentists to better understand the cleft patient care path and to be able to answer patient queries more efficiently. The objectives of this paper were to review the basic principles of PSO treatment, the various types of techniques used in this therapy, and the protocol followed, and to critically evaluate the advantages and disadvantages of some of these techniques. In conclusion, we believe that PSO treatment, specifically nasoalveolar molding, does help to approximate the segments of the cleft maxilla and does reduce the intersegment space in readiness for the surgical closure of cleft sites. However, what we remain unable to prove equivocally at this point is whether the reduction in the dimensions of the cleft presurgically and the manipulation of the nasal complex benefit our patients in the long term. PMID:28615974

  4. Long-term effects of lip repair on dentofacial morphology in patients with unilateral cleft lip and palate.

    PubMed

    Liao, Yu-Fang; Mars, Michael

    2005-09-01

    Lateral cephalograms from the growth archive of the Sri Lankan Cleft Lip and Palate Project were analyzed in a cohort design to study the long-term effects of lip repair on dentofacial morphology in patients with unilateral cleft lip and palate. A total of 71 patients were recruited, including 23 adult patients with nonsyndromic unilateral cleft lip and palate without surgical repair and 48 adult patients with nonsyndromic unilateral cleft lip and palate who had lip repair, but without management of alveolus or anterior vomer. The design utilized exact matching on ethnicity and statistical control for gender and age. The data support the hypothesis that lip repair primarily produces a bone-bending effect on the anterior maxillary alveolus (alveolar molding), accompanied by controlled uprighting of maxillary incisors, and secondarily produces a bone-remodeling effect (bone resorption) in the base of the anterior maxillary alveolus. When analyzed by the age at lip repair and the surgeon who performed lip repair, early lip repair produced a greater bone-remodeling effect than did late lip repair, and variation in the surgeon who performed lip repair had an insignificant impact on dentofacial morphology after adjusting for covariates.

  5. Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC).

    PubMed

    2011-01-01

    As part of a collaborative project on the epidemiology of craniofacial anomalies, funded by the National Institutes for Dental and Craniofacial Research and channeled through the Human Genetics Programme of the World Health Organization, the International Perinatal Database of Typical Orofacial Clefts (IPDTOC) was established in 2003. IPDTOC is collecting case-by-case information on cleft lip with or without cleft palate and on cleft palate alone from birth defects registries contributing to at least one of three collaborative organizations: European Surveillance Systems of Congenital Anomalies (EUROCAT) in Europe, National Birth Defects Prevention Network (NBDPN) in the United States, and International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) worldwide. Analysis of the collected information is performed centrally at the ICBDSR Centre in Rome, Italy, to maximize the comparability of results. The present paper, the first of a series, reports data on the prevalence of cleft lip with or without cleft palate from 54 registries in 30 countries over at least 1 complete year during the period 2000 to 2005. Thus, the denominator comprises more than 7.5 million births. A total of 7704 cases of cleft lip with or without cleft palate (7141 livebirths, 237 stillbirths, 301 terminations of pregnancy, and 25 with pregnancy outcome unknown) were available. The overall prevalence of cleft lip with or without cleft palate was 9.92 per 10,000. The prevalence of cleft lip was 3.28 per 10,000, and that of cleft lip and palate was 6.64 per 10,000. There were 5918 cases (76.8%) that were isolated, 1224 (15.9%) had malformations in other systems, and 562 (7.3%) occurred as part of recognized syndromes. Cases with greater dysmorphological severity of cleft lip with or without cleft palate were more likely to include malformations of other systems.

  6. The Effect of Cleft Lip and Palate, and the Timing of Lip Repair on Mother-Infant Interactions and Infant Development

    ERIC Educational Resources Information Center

    Murray, Lynne; Hentges, Francoise; Hill, Jonathan; Karpf, Janne; Mistry, Beejal; Kreutz, Marianne; Woodall, Peter; Moss, Tony; Goodacre, Tim

    2008-01-01

    Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…

  7. The Effect of Cleft Lip and Palate, and the Timing of Lip Repair on Mother-Infant Interactions and Infant Development

    ERIC Educational Resources Information Center

    Murray, Lynne; Hentges, Francoise; Hill, Jonathan; Karpf, Janne; Mistry, Beejal; Kreutz, Marianne; Woodall, Peter; Moss, Tony; Goodacre, Tim

    2008-01-01

    Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…

  8. 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

  9. The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.

    PubMed

    Wang, Hong; Zhang, Tianxiao; Wu, Tao; Hetmanski, Jacqueline B; Ruczinski, Ingo; Schwender, Holger; Liang, Kung Yee; Murray, Tanda; Fallin, M Daniele; Redett, Richard J; Raymond, Gerald V; Jin, Sheng-Chih; Chou, Yah-Huei Wu; Chen, Philip Kuo-Ting; Yeow, Vincent; Chong, Samuel S; Cheah, Felicia S H; Jee, Sun Ha; Jabs, Ethylin W; Scott, Alan F; Beaty, Terri H

    2013-01-01

    Background : Isolated, nonsyndromic cleft lip with or without cleft palate is a common human congenital malformation with a complex and heterogeneous etiology. Genes coding for fibroblast growth factors and their receptors (FGF/FGFR genes) are excellent candidate genes. Methods : We tested single-nucleotide polymorphic markers in 10 FGF/FGFR genes (including FGFBP1, FGF2, FGF10, FGF18, FGFR1, FGFR2, FGF19, FGF4, FGF3, and FGF9) for genotypic effects, interactions with one another, and with common maternal environmental exposures in 221 Asian and 76 Maryland case-parent trios ascertained through a child with isolated, nonsyndromic cleft lip with or without cleft palate. Results : Both FGFR1 and FGF19 yielded evidence of linkage and association in the transmission disequilibrium test, confirming previous evidence. Haplotypes of three single-nucleotide polymorphisms in FGFR1 were nominally significant among Asian trios. Estimated odds ratios for individual single-nucleotide polymorphic markers and haplotypes of multiple markers in FGF19 ranged from 1.31 to 1.87. We also found suggestive evidence of maternal genotypic effects for markers in FGF2 and FGF10 among Asian trios. Tests for gene-environment (G × E) interaction between markers in FGFR2 and maternal smoking or multivitamin supplementation yielded significant evidence of G × E interaction separately. Tests of gene-gene (G × G) interaction using Cordell's method yielded significant evidence between single-nucleotide polymorphisms in FGF9 and FGF18, which was confirmed in an independent sample of trios from an international consortium. Conclusion : Our results suggest several genes in the FGF/FGFR family may influence risk for isolated, nonsyndromic cleft lip with or without cleft palate through distinct biological mechanisms.

  10. Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate.

    PubMed

    Neiswanger, Katherine; Weinberg, Seth M; Rogers, Carolyn R; Brandon, Carla A; Cooper, Margaret E; Bardi, Kathleen M; Deleyiannis, Frederic W B; Resick, Judith M; Bowen, A'Delbert; Mooney, Mark P; de Salamanca, Javier Enríquez; González, Beatriz; Maher, Brion S; Martin, Rick A; Marazita, Mary L

    2007-06-01

    Nonsyndromic cleft lip+/-cleft palate is a complex disease with a wide phenotypic spectrum; occult defects of the superior orbicularis oris muscle may represent the mildest subclinical form of the lip portion of the phenotype. This study used high-resolution ultrasonography to compare the frequency of discontinuities in the OO muscle in 525 unaffected relatives of individuals with nonsyndromic cleft lip+/-cleft palate versus 257 unaffected controls. OO muscle discontinuities were observed in 54 (10.3%) of the non-cleft relatives, compared to 15 (5.8%) of the controls-a statistically significant increase (P=0.04). Male relatives had a significantly higher rate of discontinuities than male controls (12.0% vs. 3.2%; P=0.01); female relatives also had a higher rate of discontinuities than female controls, but the increase was not statistically significant (8.9% vs. 7.4%; P=0.56). These data confirm the hypothesis that subepithelial OO muscle defects are a mild manifestation of the cleft lip phenotype. Identification of subepithelial OO muscle defects may be important in a clinical setting, as a means of providing more accurate recurrence risk estimates to relatives in cleft families. Furthermore, the expansion of the cleft lip+/-cleft palate phenotypic spectrum should improve the power of genetic studies. Copyright (c) 2007 Wiley-Liss, Inc.

  11. Not All Clefts Are Created Equal: Patterns of Hospital-Based Care Use among Children with Cleft Lip and Palate within 4 Years of Initial Surgery.

    PubMed

    Ligh, Cassandra A; Fox, Justin P; Swanson, Jordan; Yu, Jason W; Taylor, Jesse A

    2016-06-01

    This study compares hospital-based care and associated charges among children with cleft lip, cleft palate, or both, and identifies subgroups generating the greatest cumulative hospital charges. The authors conducted a retrospective cohort study of cleft lip, cleft palate, or cleft lip and palate who underwent initial surgery from 2006 to 2008 in four U.S. states. Primary outcome was hospital-based care-emergency, outpatient, inpatient-within 4 years of surgery. Regression models compared outcomes and classification tree analysis identified patients at risk for being in the highest quartile of cumulative hospital charges. The authors identified 4571 children with cleft lip (18.2 percent), cleft palate (39.2 percent), or cleft lip and palate (42.6 percent). Medical comorbidity was frequent across all groups, with feeding difficulty (cleft lip, 2.4 percent; cleft palate, 13.4 percent; cleft lip and palate, 6.0 percent; p < 0.001) and developmental delay (cleft lip, 1.8 percent; cleft palate, 9.4 percent; cleft lip and palate, 3.6 percent; p < 0.001) being most common. Within 30 days of surgery, those with cleft palate were most likely to return to the hospital (p < 0.001). Hospital-based care per 100 children within 4 years was lowest among the cleft lip group, yet comparable among those with cleft palate and cleft lip and palate (p < 0.001). Cumulative 4-year charges, however, were highest among the cleft palate cohort (cleft lip, $56,966; cleft palate, $106,090; cleft lip and palate, $91,263; p < 0.001). Comorbidity, diagnosis (cleft lip versus cleft palate with or without cleft lip), and age at initial surgery were the most important factors associated with the highest quartile of cumulative hospital charges. Cleft lip and palate children experience a high rate of hospital-based care early in life, with degree of medical comorbidity being a significant burden. Understanding this relationship and associated needs may help deliver more efficient, patient

  12. Moustache reconstruction in patients with cleft lip: (final aesthetic touches in clefts-part ii).

    PubMed

    Duskova, Marketa; Sosna, Bohuslav; Sukop, Andrej

    2006-09-01

    Men with clefts often have limited or even missing moustache growth in scar areas or in the upper lip prolabium. However the histological testing showed the absence or at least the inactive form of androgenic receptor in hair follicle of cleft site, transplantation of autologous grafts harvested from hair was successful in all six cases either into scars or the prolabium. A more natural effect was achieved by using micrografts. The positive reaction of patients proved there is a need for detailed treatment in highly outgoing individuals.

  13. Radiology of Cleft Lip and Palate: Imaging for the Prenatal Period and throughout Life.

    PubMed

    Abramson, Zachary R; Peacock, Zachary S; Cohen, Harris L; Choudhri, Asim F

    2015-01-01

    Recent advances in prenatal imaging have made possible the in utero diagnosis of cleft lip and palate and associated deformities. Postnatal diagnosis of cleft lip is made clinically, but imaging still plays a role in detection of associated abnormalities, surgical treatment planning, and screening for or surveillance of secondary deformities. This article describes the clinical entities of cleft lip with or without cleft palate (CLP) and isolated cleft palate and documents their prenatal and postnatal appearances at radiography, ultrasonography (US), magnetic resonance (MR) imaging, and computed tomography (CT). Imaging protocols and findings for prenatal screening, detection of associated anomalies, and evaluation of secondary deformities throughout life are described and illustrated. CLP and isolated cleft palate are distinct entities with shared radiologic appearances. Prenatal US and MR imaging can depict clefting of the lip or palate and associated anomalies. While two- and three-dimensional US often can depict cleft lip, visualization of cleft palate is more difficult, and repeat US or fetal MR imaging should be performed if cleft palate is suspected. Postnatal imaging can assist in identifying associated abnormalities and dentofacial deformities. Dentofacial sequelae of cleft lip and palate include missing and supernumerary teeth, oronasal fistulas, velopharyngeal insufficiency, hearing loss, maxillary growth restriction, and airway abnormalities. Secondary deformities can often be found incidentally at imaging performed for other purposes, but detection is necessary because they may have considerable implications for the patient.

  14. [Association between fibroblast growth factor 3 polymorphism and non-syndromic oral clefting].

    PubMed

    Sun, Yan-Bo; Guo, Sheng-Sheng; Huang, Yong-Qing; Ma, Min; Ma, Jian; Ren, Hong-Wang; Gao, Jun; Shi, Bing

    2010-12-01

    To investigate the association between fibroblast growth factor 3 (FGF3) gene rs4980700 and rs4631909 polymorphism and non-syndromic oral clefting (NSOC). Blood samples from 186 NSOC patients, patients' parents and 200 controls were collected. DNA was extracted and PCR-restriction fragment length polymorphism (PCR-RFLP) was used to identify genotypes of the samples. Case-control analyses and transmission disequilibrium test (TDT) and family based association test (FBAT) analyses were also carried out. In case-control analysis, there were significant differences in rs4980700 genotype and allele among NSOC patients compared with the control group (P < 0.05) and there were significant differences in rs4631909 genotype and allele among NSOC patients compared with the control group (P < 0.05), but no difference in cleft palate only (P = 0.49). In TDT, the G allele of rs4980700 had an overtransmission (P < 0.05) and the C allele of rs4631909 had an overtransmission (P < 0.05) in NSOC. FBAT analysis also showed a significant association between FGF3 gene rs4980700, rs4631909 polymorphism and NSOC. FGF3 gene rs4980700 and rs4631909 polymorphism were associated with NSOC.

  15. A Reliable Method to Measure Lip Height Using Photogrammetry in Unilateral Cleft Lip Patients.

    PubMed

    van der Zeeuw, Frederique; Murabit, Amera; Volcano, Johnny; Torensma, Bart; Patel, Brijesh; Hay, Norman; Thorburn, Guy; Morris, Paul; Sommerlad, Brian; Gnarra, Maria; van der Horst, Chantal; Kangesu, Loshan

    2015-09-01

    There is still no reliable tool to determine the outcome of the repaired unilateral cleft lip (UCL). The aim of this study was therefore to develop an accurate, reliable tool to measure vertical lip height from photographs. The authors measured the vertical height of the cutaneous and vermilion parts of the lip in 72 anterior-posterior view photographs of 17 patients with repairs to a UCL. Points on the lip's white roll and vermillion were marked on both the cleft and the noncleft sides on each image. Two new concepts were tested. First, photographs were standardized using the horizontal (medial to lateral) eye fissure width (EFW) for calibration. Second, the authors tested the interpupillary line (IPL) and the alar base line (ABL) for their reliability as horizontal lines of reference. Measurements were taken by 2 independent researchers, at 2 different time points each. Overall 2304 data points were obtained and analyzed. Results showed that the method was very effective in measuring the height of the lip on the cleft side with the noncleft side. When using the IPL, inter- and intra-rater reliability was 0.99 to 1.0, with the ABL it varied from 0.91 to 0.99 with one exception at 0.84. The IPL was easier to define because in some subjects the overhanging nasal tip obscured the alar base and gave more consistent measurements possibly because the reconstructed alar base was sometimes indistinct. However, measurements from the IPL can only give the percentage difference between the left and right sides of the lip, whereas those from the ABL can also give exact measurements. Patient examples were given that show how the measurements correlate with clinical assessment. The authors propose this method of photogrammetry with the innovative use of the IPL as a reliable horizontal plane and use of the EFW for calibration as a useful and reliable tool to assess the outcome of UCL repair.

  16. Evidence-based medicine: Unilateral cleft lip and nose repair.

    PubMed

    Greives, Matthew R; Camison, Liliana; Losee, Joseph E

    2014-12-01

    After reading this article, the participant should be able to: 1. Describe the anatomical malformations found in unilateral cleft lip deformity. 2. Discuss current methods of measuring the deformity and subsequent outcomes. 3. Discuss preoperative assessments, workup, and the use of early interventions before definitive cheiloplasty (e.g., preoperative orthopedics, lip adhesion). 4. Discuss the different techniques used for cheiloplasty and nasal repair. 5. Discuss the use of postoperative splints, taping, or molding. 6. Discuss the outcomes and evidence of cleft lip repairs and identify areas for future research. The Maintenance of Certification module series is designed to help clinicians structure their individualized course of study to specific areas appropriate to their clinical practice. This article was prepared to accompany practice-based assessment of preoperative evaluation, anesthesia, surgical treatment plan, perioperative management, and outcomes. In this format, the clinician is invited to compare his or her methods of patient assessment and treatment, outcomes, and complications, with authoritative, information-based references. This information base is then used for self-assessment and benchmarking in parts II and IV of the Maintenance of Certification process of the American Board of Plastic Surgery. This article is not intended to be an exhaustive treatise on the subject. Rather, it is designed to serve as a reference point for further in-depth study by review of the reference articles presented.

  17. Modification of perioral stiffness in patients with repaired cleft lip and palate.

    PubMed

    Barlow, Steven M; Trotman, Carroll-Ann; Chu, Shin-Ying; Lee, Jaehoon

    2012-09-01

    To measure and compare the perioral stiffness among three groups of pediatric subjects: a group of patients with a repaired cleft lip (and palate) who had a secondary lip revision surgery (revision), another group of patients with repaired cleft lip (and palate) who did not have secondary surgery (nonrevision), and a group of noncleft "normal" patients (noncleft). A parallel, three-group, nonrandomized clinical trial. A total of 16 patients with repaired cleft lip/palate who did not have lip revision, 13 patients with repaired cleft lip/palate who had lip revision surgery and were tested at 18 to 24 months postsurgery, and 27 noncleft patients. Nonparticipatory perioral stiffness was sampled using a recently developed face-referenced measurement technology known as OroSTIFF. Perioral stiffness, derived as a quotient from resultant force and interangle lip span, was modeled with multilevel regression techniques. Real-time calculation of the perioral stiffness function demonstrated a significant quadratic relation between imposed interangle stretch and resultant force for each of the three groups. This nonlinear stiffness growth function was significantly elevated in the nonrevision patients compared with the noncleft controls and is likely due to the presence of scar tissue in the upper lip; it was significantly lower among patients with cleft lip/palate who completed lip revision surgery. This study demonstrates the efficacy of applying an objective measurement to map differences in perioral tissue biomechanics among patients born with orofacial clefts.

  18. Shape change along geodesics with application to cleft lip surgery

    PubMed Central

    Faraway, Julian J.; Trotman, Carroll-Ann

    2012-01-01

    Summary Continuous shape change is represented as curves in the shape space. A method for checking the closeness of these curves to a geodesic is presented. Three large databases of short human motions are considered and shown to be well approximated by geodesics. The motions are thus approximated by two shapes on the geodesic and the rate of progress along the path. An analysis of facial motion data taken from a study of subjects with cleft lip or cleft palate is presented that allows the motion to be considered independently from the static shape. Inferential methods for assessing the change in motion are presented. The construction of predicted animated motions is discussed. PMID:22639469

  19. The evolution of human genetic studies of cleft lip and cleft palate.

    PubMed

    Marazita, Mary L

    2012-01-01

    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.

  20. 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

  1. Frequency of homologous blood transfusion in patients undergoing cleft lip and palate surgery

    PubMed Central

    Adeyemo, Wasiu L.; Ogunlewe, Mobolanle O.; Desalu, Ibironke; Ladeinde, Akinola L.; Adeyemo, Titilope A.; Mofikoya, Bolaji O.; Hassan, Olakunle O.; Akanmu, Alani S.

    2010-01-01

    Aim: The study aims to determine the frequency of homologous blood transfusion in patientsundergoing cleft lip and palate surgery at the Lagos University Teaching Hospital, Nigeria. Setting and Design: A prospective study of transfusion rate in cleft surgery conducted at the Lagos University Teaching Hospital, Nigeria. Material and Methods: One hundred consecutive patients who required cleft lip and palate surgery were recruited into the study. Data collected included age, sex and weight of patients, type of cleft defects, type of surgery done, preoperative haematocrit, duration of surgery, amount of blood loss during surgery, the number of units of blood cross-matched and those used. Each patient was made to donate a unit of homologous blood prior to surgery. Results: There were 52 females and 48 males with a mean age of 64.4 ± 101.1 months (range, 3-420 months). The most common cleft defect was isolated cleft palate (45%) followed by unilateral cleft lip (28%). Cleft palate repair was the most common procedure (45%) followed by unilateral cleft lip repair (41%). The mean estimated blood loss was 95.8 ± 144.9 ml (range, 2-800ml). Ten (10%) patients (CL=2; CP=5, BCL=1; CLP=2) were transfused but only two of these were deemed appropriate based on percentage blood volume loss. The mean blood transfused was 131.5 ± 135.4ml (range, 35-500ml). Six (60%) of those transfused had a preoperative PCV of < 30%. Only 4.9% of patients who had unilateral cleft lip surgery were transfused as compared with 50% for CLP surgery, 11% for CP surgery, and 10% for bilateral cleft lip surgery. Conclusions: The frequency of blood transfusion in cleft lip and palate surgery was 10% with a cross-match: transfusion ratio of 10 and transfusion index of 0.1. A "type and screen" policy is advocated for cleft lip and palate surgery. PMID:20924451

  2. Cleft lip-cleft palate in Zimbabwe: estimating the distribution of the surgical burden of disease using geographic information systems.

    PubMed

    Tollefson, Travis T; Shaye, David; Durbin-Johnson, Blythe; Mehdezadeh, Omid; Mahomva, Leonard; Chidzonga, Midion

    2015-02-01

    To evaluate the prevalence and unmet need for cleft lip-cleft palate reconstructive surgery by using incidence. Our hypotheses were that the age of presentation to screening clinics will decrease between 2006 and 2012, and the geospatial distribution of cases will expand to a more rural catchment area. Longitudinal cross-sectional/geospatial distribution study. An online, secure database was created from intake forms for children with cleft lip-cleft palate (N=604) in Zimbabwe (2006-2012). Univariate analysis was completed. A linear regression model was fitted to test the time trend of a child's age at the time of presentation. Unique patient addresses (n=411) were matched. Maps presenting cleft diagnosis and presentation year were created with geographic information systems (GIS) software. The median age of presentation was greater for isolated cleft palate (4.2 years, n=106) than isolated cleft lip (1.5 years, n=251) and cleft lip-cleft palate (2.0 years, n=175). Cleft lip cases were mostly left sided with equal gender distribution. The overall age of presentation remained stable (P=.83). The age of children with isolated cleft palate decreased by 0.8 years per surgical trip (P=.01), suggesting the prevalence of unrepaired cleft palate is decreasing due to local and visiting surgeons. The catchment area extended to a less populous area, but clustered around Harare and Bulawayo. This study gives Zimbabwe-specific evidence that supports reports of the persistent burden of disease requiring attention. The GIS software provided data for the primary needs assessment, which will direct communication to healthcare providers and prospective patients outside of the current catchment area. 3 © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

  3. A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate.

    PubMed

    Watanabe, Akira; Akita, Sadanori; Tin, Nguyen Thi Duc; Natsume, Nagato; Nakano, Yoko; Niikawa, Norio; Uchiyama, Takeshi; Yoshiura, Koh-ichiro

    2006-05-01

    The RYK, EPHB2, and EPHB3 genes are attractive candidates for cleft lip and/or palate and cleft palate only pathogenesis. Both the Ryk-deficient mouse and Ephb2/Ephb3 (genes for interaction molecules with RYK) double-mutant mouse show cleft palate. Mutation searches for RYK, EPHB2, and EPHB3 were carried out in a large number of Japanese and Vietnamese patients with cleft lip and/or palate and cleft palate only. Case-control study and transmission disequilibrium tests were performed also, using three single nucleotide polymorphisms within a linkage disequilibrium block in RYK. Seven haplotypes were constructed from the single nucleotide polymorphisms. A missense mutation, 1355G>A (Y452C), in RYK was identified in one Vietnamese patient with cleft lip and/or palate. This mutation was not found among 1646 Vietnamese, Japanese, and Caucasians, including 354 cleft lip and/ or palate and cleft palate only patients. Colony formation assay using NIH3T3 cells transfected with mutant cDNA revealed that mutant RYK had significantly reduced protein activity, compared with those with wild-type RYK, implying that the transformation ability of RYK is depleted by this mutation. Although a case-control study and transmission disequilibrium tests on three individual single nucleotide polymorphisms provided no evidence for association with oral clefts, a case-control study on one rare haplotype suggested a positive association in Japanese patients with cleft lip and/or palate and cleft palate only. No mutations in EPHB2 and EPHB3 were found in any patients examined. The findings suggested that a missense mutation, 1355G>A, and one rare single nucleotide polymorphisms haplotype may play a role in the development of cleft lip and/or palate in the Vietnamese, and cleft lip and/ or palate and cleft palate only in the Japanese.

  4. Assessment of the patient with cleft lip and palate. A developmental approach.

    PubMed

    Elmendorf, E N; D'Antonio, L L; Hardesty, R A

    1993-10-01

    Children with cleft lip and palate require interdisciplinary team care from infancy through adolescence. An understanding of developmental stages allows the cleft palate team to adapt and integrate its services into the rapidly changing life of the child. This article discusses the maturational, developmental stages of childhood and the services the child with cleft lip and palate and the child's family deserve through each stage. Health care providers in all settings may continue to provide appropriate care for all patients with cleft lip and palate, despite the challenges of a changing health care environment, by emphasizing the needs of the child in all developmental stages.

  5. [Investigation of children with congenital cleft lip and palate by Eysenck personality questionnaire(Junior)

    PubMed

    Zhang, H Z; Hu, J F

    1998-12-01

    OBJECTIVE: To approach the personality of the children suffering from congenital cleft lip and palate. METHODS: The subject were 50 children (aged 7 to 17) with congenital cleft lip and palate,and 50 normal children as control.Both groups were investigated by Eysenck personality questionnaire EPQ(Junior). RESULTS: According to the general quantitative table of EPQ(Junior),the abnormal cases in cleft group were significantly more than those in control(P<0.005),and also were the abnormal cases in the single quantitative or in the multiple quantitative tables of EPQ(Junior)(P<0.005) respectively. CONCLUSION: The poor personality in children with cleft lip and palate is correlated to the cleft condition.Therefore it is necessary to pay attention to the prevention of poor personality while the cleft lip and palate is treated.

  6. Treatment of 4-5 year old patients with cleft lip and cleft palate in Tawanchai center.

    PubMed

    Pradubwong, Suteera; Volrathongchai, Kanittha; Chowchuen, Bowornsilp

    2013-09-01

    The occurrence of Cleft Lip/Palate condition in Thailand reaches a rate of 2.49% of child births, with estimates of 800 new cases per year in the Northeastern region. The healthcare process emphasizes interdisciplinary teamwork at each stage of the planning of treatment and services with the primary goal of achieving patient satisfaction and ability to live normally in society. The first 5 years are particularly important, with a focus on quality of care and ability to adapt to the environment before entering school. To study the treatment of patients with cleft lip and palate in Tawanchai center in the 4-5 year age range. A retrospective study of the clinical records was led, concerning the 123 cleft lip and cleft palate patients aged 4-5 years under treatment in Tawanchai center, Srinagarind Hospital. Data was collected during three months from October to December 2011, using the admission records of the interdisciplinary team. Percentages and mean values were calculated from these data. 120 of the 123 patients were operated, giving a ratio of 97.56%. 108 cases were under government universal health coverage regime, corresponding to 87.80% of cases. 74 cases (60.16%) presented both cleft lip and palate condition, and an average of 5-night stay in hospital per person. Medical services by the interdisciplinary team were provided as follows: (1) of 30 patients with cleft lip aged 3-4 months, 30 (100%) received pre and post-surgery care counseling, 29 (96.67%) received surgery; (2) of 19 patients with cleft palate aged 10-18 months, 17 (89.47%) received treatment information, pre and postsurgery counseling and were operated according to the protocols; (3) of 74 patients with cleft lip and palate, 53 (71.62%) received counseling for pre and post-surgery care for lip repair at the age of 3-4 months, 52 (70.27%) were operated following the protocols, while at the age of 10-18 months 63 patients (85.14%) received treatment information, pre and postsurgery care counseling

  7. Presurgical management of unilateral cleft lip and palate in a neonate: a clinical report.

    PubMed

    Avhad, Rajendra; Sar, Ranjukta; Tembhurne, Jyoti

    2014-09-01

    A cleft lip and palate consists of fissures of the upper lip and/or palate, and is the most commonly seen orofacial anomaly that involves the middle third of the face. Early treatment of patients with a cleft lip and palate is important because of esthetic, functional, and psychological concerns. Nasoalveolar molding provides excellent results when started immediately after birth. This clinical report describes the presurgical management of an infant with a complete unilateral cleft of the soft palate, hard palate, alveolar ridge, and lip. Copyright © 2014 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

  8. Repair of bilateral clefts of lip, alveolus and palate Part 1: A refined method for the lip-adhesion in bilateral cleft lip and palate patients.

    PubMed

    Bitter, Klaus

    2001-02-01

    The protruding premaxilla represents the most severe problem in the surgical closure of a bilateral cleft lip, alveolus and palate (BCLP). In principle there are two methods to overcome this obstacle: (1) preliminary lip adhesion and (2) presurgical repositioning with intraoral devices. According to the various degrees of premaxillary protrusion, sometimes adhesion alone is sufficient, if the surgical technique is unlikely to break down. In this paper a refined adhesion method is presented, withstanding traction to the wound margins and concomitantly enables lip and nose repairs in a single second operation. For patients with severe premaxillary protrusion, presurgical use of a Latham appliance achieves conditions for safe lip adhesion as above. Both treatment methods are outlined. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

  9. Repair of bilateral clefts of lip, alveolus and palate. Part 1: A refined method for the lip-adhesion in bilateral cleft lip and palate patients.

    PubMed

    Bitter, K

    2001-02-01

    The protruding premaxilla represents the most severe problem in the surgical closure of a bilateral cleft lip, alveolus and palate (BCLP). In principle there are two methods to overcome this obstacle: (1) preliminary lip adhesion and (2) presurgical repositioning with intraoral devices. According to the various degrees of premaxillary protrusion, sometimes adhesion alone is sufficient, if the surgical technique is unlikely to break down. In this paper a refined adhesion method is presented, withstanding traction to the wound margins and concomitantly enables lip and nose repairs in a single second operation. For patients with severe premaxillary protrusion, presurgical use of a Latham appliance achieves conditions for safe lip adhesion as above. Both treatment methods are outlined.

  10. Early Predictors of Attachment in Infants with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Speltz, Matthew L.; And Others

    1997-01-01

    Examined attachment classification of children with cleft lip and palate (CLP) and isolated cleft palate (ICP) and comparison group at 12 months of age; found no significant differences. Findings suggest that infants with clefts, despite special needs and caregiving requirements, seem not to have elevated risk for insecure attachments at the end…

  11. Early Predictors of Attachment in Infants with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Speltz, Matthew L.; And Others

    1997-01-01

    Examined attachment classification of children with cleft lip and palate (CLP) and isolated cleft palate (ICP) and comparison group at 12 months of age; found no significant differences. Findings suggest that infants with clefts, despite special needs and caregiving requirements, seem not to have elevated risk for insecure attachments at the end…

  12. Effects of lip revision surgery on long-term orosensory function in patients with cleft lip/palate.

    PubMed

    Essick, Greg; Phillips, Ceib; Chung, Yunro; Trotman, Carroll-Ann

    2013-09-01

    OBJECTIVE : To determine whether secondary lip revision surgery impacts sensitivity of the upper lip. DESIGN : A three-group, parallel, prospective, nonrandomized clinical trial. SETTING : University of North Carolina School of Dentistry. PATIENTS, PARTICIPANTS : Three groups: (1) patients with repaired cleft lip/palate who were scheduled for lip revision (revision; N = 20); (2) patients with repaired cleft lip/palate who did not receive a lip revision (non-revision; N = 13); and (3) non-cleft control subjects (non-cleft; N = 22). Interventions : Lip revision surgery. MAIN OUTCOME MEASURES : Measures of (1) two-point perception threshold (two-point), (2) warmth detection threshold (warm), and (3) cool detection threshold (cool) were obtained from two sites on the upper lip vermilion. The revision participants were tested approximately 1 week before surgery and then approximately 3 and 12 months after surgery. The non-revision and non-cleft participants were tested at similar times. RESULTS : There were no significant differences among the three groups at baseline for two-point, warm, or cool. The main effects of group, age, sex, and time were not statistically significant for the two-point or warm (p > .05). The mean differences between the 3- and 12-month follow-up visits and baseline for two-point and warm were small for all three groups. For cool, group was statistically significant (p = .04), the difference in the non-revision group between follow-up and baseline was 31% to 34% higher than in the non-cleft group (p = .01). CONCLUSIONS : Although at postsurgery revision participants exhibited threshold values comparable to presurgical values, the sensory differences observed among subgroups of participants with cleft lip are complex.

  13. 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

    2016-07-21

      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.   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.   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.   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.

  14. Descriptive epidemiology of cleft lip and cleft palate in Western Australia.

    PubMed

    Bell, Jane C; Raynes-Greenow, Camille; Bower, Carol; Turner, Robin M; Roberts, Christine L; Nassar, Natasha

    2013-02-01

    The reported birth prevalence of orofacial clefts (OFCs) varies considerably. This study describes the epidemiology of OFCs in an Australian population. We studied infants diagnosed with cleft lip, with or without cleft palate (CL±P), and cleft palate only (CPO) since 1980 and reported to the population based Western Australian Register of Developmental Anomalies. We calculated prevalence rates by sex, Aboriginal status, geographic location, and socio-economic status. Associations between clefts and folate availability, pregnancy characteristics, pregnancy outcomes, other congenital anomalies, and age at diagnosis were also investigated. From 1980 to 2009, 917 infants with CL±P (12.05 per 10,000) and from 1980 to 2004, 621 infants with CPO (10.12 per 10,000) were registered. Prevalence rates for CL±P and CPO were 1.9 and 1.3 times higher, respectively, for Aboriginal Australians. Additional anomalies were reported for 31% of infants with CL±P and for 61% with CPO; chromosomal anomalies and other specific diagnoses accounted for 46% and 66%, respectively, of those with CL±P and CPO with additional anomalies. Almost all (99.7%) children with CL±P were diagnosed before 1 year of age, but 12% of CPO diagnoses were made after 1 year of age; 94% of these diagnoses were of submucous clefts and bifid uvula. These data provide a picture of the prevalence of OFCs in WA since 1980, and provide a useful reference for OFC data in Australia and internationally. The quality and completeness of the WARDA data are high, reflected in high prevalence rates, and proportions of clefts occurring with other anomalies. Copyright © 2012 Wiley Periodicals, Inc.

  15. FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

    PubMed

    Pauws, Erwin; Stanier, Philip

    2007-12-01

    Owing to the complex aetiology and the variable penetrance of cleft lip and/or palate (CL/P), understanding the molecular basis has been challenging. Recent reports have identified two independent biochemical pathways that will help to elucidate the underlying pathology. Fibroblast growth factor signalling, previously known for its involvement in craniofacial development, is now implicated in the genetic basis of both syndromic and non-syndromic CL/P. At the same time, an important role in lip and palate development is beginning to emerge for small ubiquitin-like modifier modification, a widely used posttranslational regulatory mechanism. Both of these pathways might interact with environmental risk factors for CL/P. Here we review their contribution to normal and abnormal orofacial development.

  16. Cleft lip and palate surgery: 30 years follow-up.

    PubMed

    Guerrero, Cesar A

    2012-07-01

    Ten cleft lip and palate patients with complete unilateral (five patients) and bilateral (five patients) clefts were treated by a multidisciplinary team integrated by psychologists, surgeons, orthodontists, prosthodontists, pediatric dentists, and speech pathologists, to obtain ideal soft tissue and hard tissue continuity, facial symmetry, functional and esthetic dentitions, excellent nasal architecture, subtle, and hidden lip scars. No hypernasality and adequate social adaptation were found in the 30 years follow-up (20-30 years follow-up with an average of 25.5 years). The patients were treated in a pro-active fashion avoiding complications and related problems, executing the ideal surgical, dental, and speech therapy plan, based on a close follow-up over the entire period. Those patients treated at the right time required less surgeries and less salvaging maneuvers and presented complete dentitions with less dental prosthesis or dental implants and stable occlusions, than those who missed the ideal dental and surgical treatment opportunities. The focus of this article is the need of a close long-term follow-up to ensure an ideal patient's quality of life.

  17. Presurgical orthopedic premaxillary alignment in cleft lip and palate reconstruction.

    PubMed

    Papay, F A; Morales, L; Motoki, D S; Yamashiro, D K

    1994-11-01

    Premaxillary malposition is a difficult problem in cleft lip and palate repair. Orthopedic palatal devices are excellent in positioning the premaxilla, though they are somewhat cumbersome and require complex techniques in adjusting precisely the position of the premaxilla prior to repair. A new technique has been developed for premaxillary repositioning in conjunction with palatal shelf expansion and obturation. The procedure implements microplate fixation anterior to the premaxillary segment and linked to a palatal splint by adjustable elastics. The microplate is inserted through a nasal floor incision and secured by a tight submucosal tunnel through minimal dissection between the prolabium and premaxilla. The last hole of each microplate protrudes through the mucosa and is attached to a pin-retained palatal splint by an elastic chain. Differential tension is applied to the chains to allow gradual repositioning of the protruding maxilla while the splint expands and maintains positioning of the lateral palatal segments. These elastic retractors can be adjusted by staff in the outpatient office. During the past 2 years, this technique has been used successfully in 21 consecutive patients with unilateral or bilateral cleft lip and palate. Its technical ease and design allows simple adjustments to control premaxillary positioning and growth before definitive surgical closure.

  18. Cleft lip and palate surgery: 30 years follow-up

    PubMed Central

    Guerrero, Cesar A.

    2012-01-01

    Ten cleft lip and palate patients with complete unilateral (five patients) and bilateral (five patients) clefts were treated by a multidisciplinary team integrated by psychologists, surgeons, orthodontists, prosthodontists, pediatric dentists, and speech pathologists, to obtain ideal soft tissue and hard tissue continuity, facial symmetry, functional and esthetic dentitions, excellent nasal architecture, subtle, and hidden lip scars. No hypernasality and adequate social adaptation were found in the 30 years follow-up (20-30 years follow-up with an average of 25.5 years). The patients were treated in a pro-active fashion avoiding complications and related problems, executing the ideal surgical, dental, and speech therapy plan, based on a close follow-up over the entire period. Those patients treated at the right time required less surgeries and less salvaging maneuvers and presented complete dentitions with less dental prosthesis or dental implants and stable occlusions, than those who missed the ideal dental and surgical treatment opportunities. The focus of this article is the need of a close long-term follow-up to ensure an ideal patient's quality of life. PMID:23483117

  19. Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil.

    PubMed

    Brandalize, A P C; Bandinelli, E; Borba, J B; Félix, T M; Roisenberg, I; Schüler-Faccini, L

    2007-06-01

    Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case) and 110 mothers, and 100 non-affected (control) children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35) and for MTR 2756G allele (0.17), but MTRR 66G allele frequency (0.35) was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.

  20. Maiden morsel - feeding in cleft lip and palate infants

    PubMed Central

    Devi, E. Sree; Sai Sankar, A. J.; Manoj Kumar, M. G.; Sujatha, B.

    2012-01-01

    Cleft lip and cleft palate are the most common craniofacial anomalies that have an incidence of 0.28 to 3.74 per 1000 live births globally. Due to the great advancements in the field of medical science, these anomalies can today be corrected. However, it cannot be ignored that the parents of these patients may face psychological stress due to the cleft defects in the baby. Also, these conditions may cause financial difficulties to the parents and cause anxiety to the mother about the proper feeding of their infant. Feeding problems can range from excessive air intake to failure to thrive. As the management of such cases is lengthy and includes a multi-disciplinary team approach, it is the role of the Pediatrician/Pedodontist to educate the mother about the proper feeding techniques. In this article, we have reviewed and highlighted the various traditional and advanced devices and techniques which help in the successful management of these individuals. PMID:24478964

  1. Simultaneous premaxillary repositioning and cheiloplasty in adult patients with unrepaired bilateral cleft lip and palate.

    PubMed

    Lee, Ui-Lyong; Cho, Jun-Bum; Choung, Pill-Hoon

    2013-03-01

    Primary cheiloplasty in adult patients with unrepaired complete bilateral cleft lip and palate is quite challenging due to severe premaxillary anterior projection. To get the best repair results, the author carried out repositioning of the premaxilla and repair of the lip deformity in a single stage. Positive results for the primary lip repair and appropriate repositioning of the premaxilla were achieved. No avascular necrosis of the premaxilla was observed. Repositioning of the premaxilla and repair of the lip deformity in a single operation appears to be a reliable method for treating adult patients with previously unrepaired or poorly repaired bilateral cleft lip and palate.

  2. Bilateral asymmetry in Chinese families with cleft lip with or without cleft palate.

    PubMed

    Neiswanger, Katherine; Cooper, Margaret E; Liu, You-E; Hu, Dan-Ning; Melnick, Michael; Weinberg, Seth M; Marazita, Mary L

    2005-03-01

    To determine if Chinese individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) display more bilateral asymmetry than do their unaffected relatives. A case-control study of 313 individuals with CL/P from Shanghai, China, with 201 unaffected relatives as controls. Size-adjusted asymmetry scores were defined by data on middle-finger length, palm length, palpebral fissure width, and ear length. Case-control comparisons used a multivariate repeated measures analysis of variance, paired t tests, and the Wilcoxon signed rank test. The ear-length measure showed a significant increase in fluctuating asymmetry (FA) in individuals with CL/P compared with their unaffected relatives, which was most pronounced in the female cleft lip and palate subgroup (p = .04). No other measures showed any increase in FA. Evidence was found for increased FA, as measured by overall ear length, in Chinese individuals with nonsyndromic CL/P, compared with their unaffected family members. The use of bilateral measurements other than dermatoglyphics may prove to be a valuable means of assessing overall developmental stability in individuals with developmental malformations and in their families.

  3. Effects of lip repair on maxillary growth and facial soft tissue development in patients with a complete unilateral cleft of lip, alveolus and palate.

    PubMed

    Li, Yang; Shi, Bing; Song, Qing-Gao; Zuo, Hui; Zheng, Qian

    2006-09-01

    To examine the relationship between lip repair and inhibition of maxillary growth, and to investigate the characteristics of upper lip in patients with complete unilateral clefts of lip, alveolus and palate. Lateral cephalometric radiographs and photographs (anterior-posterior and profile) were taken for 3 groups of patients: (1) 35 complete unilateral cleft lip, alveolus and palate cases in whom only a labioplasty was performed as infants; (2) 47 cases who had both lip and palate repaired; and (3) 37 non-cleft peers as controls. There was maxillary retrusion in groups (1) and (2). Surface area and height of the upper lip was reduced in both these groups when compared with the normal controls. Lip repair is a most important factor in the restraint of maxillary growth in patients with complete unilateral clefts of lip, alveolus and palate. And height and projection of the upper lip are reduced following lip repair.

  4. Cleft lip and palate: a review for dentists.

    PubMed

    Precious, D S; Goodday, R H; Morrison, A D; Davis, B R

    2001-12-01

    The goals of primary closure of cleft lip and palate include not only re-establishing normal insertions for all of the nasolabial muscles but also restoring the normal position of all the other soft tissues, including the mucocutaneous elements. Conventional surgical wisdom, which recommends waiting until growth is complete before undertaking surgical correction of the postoperative sequelae of primary cheiloplasty, carries with it many disadvantages. If, after primary surgery of the lip, orolabial dysfunctions remain, they will exert their nefarious influences during growth and will themselves lead to long term dentofacial imbalances. These imbalances can significantly influence facial harmony. Unless accurate, symmetric and functional reconstruction of the nasolabial muscles is achieved during the primary surgery, not only will the existing dentoskeletal imbalances be exaggerated, but other deformities will be caused during subsequent growth, among which the most important are nasal obstruction and mouth breathing, reduced translation of the maxilla, dysymmetry of the nose and inability of the patient to symmetrically project the upper lip

  5. Prevalence, pattern and perceptions of cleft lip and cleft palate among children born in two hospitals in Kisoro District, Uganda

    PubMed Central

    2014-01-01

    Background Cleft lip with or without cleft palate is one of the most common congenital anomalies that affect the oro-facial region. The aim of the study was to determine the period prevalence, pattern and perceptions of cleft lip and cleft palate in children born between 2005 and 2010 in two hospitals in Kisoro District, Uganda. Methods The study involved a retrospective review of medical records of mothers who delivered live babies between January 2005 and December 2010 in Kisoro Hospital and St. Francis Hospital, Mutolere in Kisoro District. Key informant interviews of mothers (n = 20) of the children with cleft lip and/or clip palate and selected medical staff (n = 24) of the two hospitals were carried out. The data were analysed using descriptive statistics. Results Over the 6 year period, 25,985 mothers delivered live babies in Kisoro Hospital (n = 13,199) and St. Francis Hospital, Mutolere (n = 12,786) with 20 babies having oro-facial clefts. The overall period prevalence of the clefts was 0.77/1,000 live births. Sixty percent (n = 12) of children had combined cleft lip and palate and the same proportion had clefts on the left side of the face. More boys were affected than girls: 13 versus 7. About 45% of mothers were hurt on realizing that they had delivered a child with an oro-facial cleft. Forty percent of mothers indicated that a child with oro-facial cleft was regarded as an outcast. About 91.7% (n = 22) of the medical staff reported that these children were not accepted in their communities. Surgical intervention and psychosocial support were the management modalities advocated for by most respondents. Conclusion/recommendations The period prevalence of combined cleft lip and palate in two hospitals in Kisoro District was comparable to some findings elsewhere. Cleft lip and cleft palate are a medical and psychosocial problem in Kisoro District that calls for sensitization and counseling of the families and communities of the affected children

  6. Dental age in children with a complete unilateral cleft lip and palate.

    PubMed

    Huyskens, Rinske W F; Katsaros, Christos; Van 't Hof, Martin A; Kuijpers-Jagtman, Anne M

    2006-09-01

    To assess dental age in children with a complete unilateral cleft lip and palate and to compare this with a noncleft control group. Two-group, mixed-longitudinal cohort study. Cleft group from an academic center for cleft lip and palate treatment. Noncleft control group from the same population. Participants included 70 Caucasian children with a full complement of teeth and a complete unilateral cleft lip and palate (45 boys and 25 girls) from the Cleft Palate Craniofacial Center at the Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. The control group (90 boys and 91 girls) was taken from the Nijmegen Growth Study. Dental age was assessed on orthopantomograms. In the unilateral cleft lip and palate group, linear interpolation in individual age curves was applied to obtain the dental age at 5, 9.5, and 14 years of age. For these ages, a comparison was made with the noncleft control group. Boys and girls with a unilateral cleft lip and palate showed a significant delay in dental age, as compared with their noncleft peers at all three ages. This delay was more pronounced in boys than in girls. The gender effect was significant at chronological ages 5 and 14 years. Children with a complete unilateral cleft lip and palate have a delay in dental age, compared with noncleft children.

  7. Secondary Cleft Lip Reconstruction and the Use of Pedicled, Deepithelialized Scar Tissue

    PubMed Central

    Nadjmi, Nasser; Amadori, Sara; Van de Casteele, Elke

    2016-01-01

    Background: The optimal time to create symmetry in a cleft lip is during primary repair; a secondary effort later is more difficult due to potential scarring and possible tissue deficiency of the repaired cleft lip. A plethora of methods for secondary correction have been described that have the goal of constructing the philtral column, ameliorating bad scar results, and augmenting lip volume, for example. Nevertheless, there is no single procedure that yields completely satisfactory results. In addition, the appropriate timing for secondary surgical corrections of the cleft lip is still under debate. Methods: We present a new technique for secondary lip reconstruction of unilateral and bilateral cleft patients using pedicled, de-epithelialized cleft scar tissue as an autologous graft to obtain sustainable lip volume. Our results were evaluated by physicians and patient-parent satisfaction surveys. Results: The esthetic outcomes of 29 patients were assessed using a patient satisfaction questionnaire and a physician survey based on the preoperative and postoperative clinical images. The success of the procedure was evaluated using a 5-point scale. The total scores of both the physician and patient assessments were high, although no correlation was found between the scores. Conclusions: Cleft lip reconstruction using pedicled, deepithelialized scar tissue leads to excellent physician and patient satisfaction scores; this technique can be executed at any patient age and as a secondary repair for any given primary type of cleft disorder. PMID:27826467

  8. The effect of cleft lip on adults' responses to faces: cross-species findings.

    PubMed

    Parsons, Christine E; Young, Katherine S; Parsons, Emma; Dean, Annika; Murray, Lynne; Goodacre, Tim; Dalton, Louise; Stein, Alan; Kringelbach, Morten L

    2011-01-01

    Cleft lip and palate is the most common of the congenital conditions affecting the face and cranial bones and is associated with a raised risk of difficulties in infant-caregiver interaction; the reasons for such difficulties are not fully understood. Here, we report two experiments designed to explore how adults respond to infant faces with and without cleft lip, using behavioural measures of attractiveness appraisal ('liking') and willingness to work to view or remove the images ('wanting'). We found that infants with cleft lip were rated as less attractive and were viewed for shorter durations than healthy infants, an effect that was particularly apparent where the cleft lip was severe. Women rated the infant faces as more attractive than men did, but there were no differences in men and women's viewing times of these faces. In a second experiment, we found that the presence of a cleft lip in domestic animals affected adults' 'liking' and 'wanting' responses in a comparable way to that seen for human infants. Adults' responses were also remarkably similar for images of infants and animals with cleft lip, although no gender difference in attractiveness ratings or viewing times emerged for animals. We suggest that the presence of a cleft lip can substantially change the way in which adults respond to human and animal faces. Furthermore, women may respond in different ways to men when asked to appraise infant attractiveness, despite the fact that men and women 'want' to view images of infants for similar durations.

  9. 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.

  10. Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations.

    PubMed

    Sobol, Danielle L; Allori, Alexander C; Carlson, Anna R; Pien, Irene J; Watkins, Stephanie E; Aylsworth, Arthur S; Meyer, Robert E; Pimenta, Luiz A; Strauss, Ronald P; Ramsey, Barry L; Raynor, Eileen; Marcus, Jeffrey R

    2016-12-01

    The aesthetic aspects of the cleft lip nasal deformity have been appreciated for over a century, but the functional implications have remained largely underappreciated or misunderstood. This study describes the frequency and severity of nasal obstructive symptoms among children with cleft lip and/or cleft palate, addressing the hypotheses that age, cleft type, and severity are associated with the development of nasal obstructive symptoms. Children with nonsyndromic cleft lip and/or cleft palate and a comparison group of unaffected children born from 1997 to 2003 were identified through the North Carolina Birth Defects Monitoring Program and birth certificates. Nasal airway obstruction was measured using the validated Nasal Obstruction Symptom Evaluation scale. The survey was completed by parental proxy for 176 children with cleft lip and/or cleft palate and 333 unaffected children. Nasal obstructive symptoms were more frequently reported in cleft lip with cleft palate compared with unaffected children (p < 0.0001); children who had isolated cleft lip with or without alveolus and isolated cleft palate were not statistically different from unaffected children. Patients with unilateral cleft lip with cleft palate were found to be more severely affected than bilateral cases. Nasal obstruction was observed in early childhood, although severity worsened in adolescence. This population-based study reports a high prevalence of nasal obstructive symptoms in children with cleft lip and/or cleft palate based on type and severity of the cleft. The authors encourage cleft teams to consider using this or similar screening methods to identify which children may benefit from functional rhinoplasty. Risk, I.

  11. Measuring Symmetry in Children With Cleft Lip. Part 3: Quantifying Nasal Symmetry and Nasal Normalcy Before and After Unilateral Cleft Lip Repair.

    PubMed

    Liang, Shu; Shapiro, Linda; Tse, Raymond

    2017-09-01

      The purpose of this project was to develop objective computer-based methods to measure nasal asymmetry and abnormality in children undergoing treatment of unilateral cleft lip (UCL) and to determine the correlation of these measures to clinical expectations.   Thirty infants with UCL undergoing cleft lip repair; 27 children with UCL aged 8 to 10 years who had previously undergone cleft lip repair; 3 control infants; 3 control children aged 8 to 10 years.   To measure nasal symmetry, we used a process of depth mapping and calculated the Depth Area Difference. To measure abnormality, we used the reconstruction error from Principle Component Analysis (PCA) that was based upon characteristics of a dataset of over 2000 images of normal control subjects.   Depth Area Difference and PCA Reconstruction Error for cleft type, changes with surgery, and individual subjects ranked according to cleft severity were assessed.   Significant differences in Depth Area Difference and PCA Reconstruction Error were found between cleft types and found before and after surgery. Nasal symmetry and normalcy scores for infants with UCL approached those of controls after surgery, and there was a strong correlation with ranked cleft severity. For older children, measures of nasal symmetry and abnormality were better than infants prior to repair but worse than infants following UCL repair.   Our computer-based 3D analysis of nasal symmetry and normalcy correlated with clinical expectations. Automated processing made measurement convenient. Use of these measures may help to objectively measure cleft severity and treatment outcome.

  12. Nonsyndromic cleft lip with or without cleft palate: New BCL3 information

    SciTech Connect

    Amos, C.; Hecht, J.T.; Gasser, D.

    1996-09-01

    We did not previously provide LOD scores for linkage assuming heterogeneity, as suggested by Ott for the linkage analysis of cleft lip with or without cleft palate (CL/P) and BCL3, ApoC2, and D19S178 in the paper by Stein et al. The results from analysis using the HOMOG program, allowing for heterogeneity under the reduced penetrance model, gave a maximum LOD score of 1.85 for ApoC2, 0.41 for BCL3, 0.03 for D19S178, and 1.72 for multipoint analysis in the interval. For the affecteds-only model, the values are 1.96 for ApoC2, 0.41 for BCL3, 0.01 for D19S178, and 1.44 for the multipoint analysis. 8 refs.

  13. Follow-Up Association Studies of Chromosome Region 9q and Nonsyndromic Cleft Lip/Palate

    PubMed Central

    Letra, Ariadne; Menezes, Renato; Govil, Manika; Fonseca, Renata F.; McHenry, Toby; Granjeiro, José M.; Castilla, Eduardo E.; Orioli, Iêda M.; Marazita, Mary L.; Vieira, Alexandre R.

    2010-01-01

    Cleft lip/palate comprises a large fraction of all human birth defects, and is notable for its significant lifelong morbidity and complex etiology. Several studies have shown that genetic factors appear to play a significant role in the etiology of cleft lip/palate. Human chromosomal region 9q21 has been suggested in previous reports to contain putative cleft loci. Moreover, a specific region (9q22.3-34.1) was suggested to present a ∼45% probability of harboring a cleft susceptibility gene. Fine mapping of fifty SNPs across the 9q22.3-34.11 region was performed to test for association with cleft lip/palate in families from United States, Spain, Turkey, Guatemala, and China. We performed family-based analysis and found evidence of association of cleft lip/palate with STOM (rs306796) in Guatemalan families (P=0.004) and in all multiplex families pooled together (P=0.002). This same SNP also showed borderline association in the US families (P=0.04). Under a nominal value of 0.05, other SNPs also showed association with cleft lip/palate and cleft subgroups. SNPs in STOM and PTCH genes and nearby FOXE1 were further associated with cleft phenotypes in Guatemalan and Chinese families. Gene prioritization analysis revealed PTCH and STOM ranking among the top fourteen candidates for cleft lip/palate among 339 genes present in the region. Our results support the hypothesis that the 9q22.32-34.1 region harbors cleft susceptibility genes. Additional studies with other populations should focus on these loci to further investigate the participation of these genes in human clefting. PMID:20583170

  14. 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

  15. 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.

  16. Surgically repaired cleft lips depicted in paintings of the late Gothic period and the Renaissance.

    PubMed

    Pirsig, W; Haase, S; Palm, F

    2001-04-01

    Paintings and drawings by Lucas Moser, Leonardo da Vinci, Albrecht Dürer, and Jacob Cornelisz van Oostsanen suggest that they employed people who had had cleft lips operated on as models for their works of art. Created between 1431 and 1520, the portraits show diagnostic facial profiles with a curved nasal dorsum, short columella, maxillary retrusion, and pseudoprogenia. The first medical illustration of cleft lip surgery was published in 1564 by Ambroise Paré. It was therefore late Gothic and Renaissance artists who depicted the conspicuous signs of surgically treated patients with cleft lip more than 130 years before the surgeons.

  17. Supporting the drive to thrive in cleft lip and palate infant- a case report.

    PubMed

    S, Thabitha Rani; M, Manjula; N, Sreelakshmi; E, Rajendra Reddy; A, Rajesh

    2013-12-01

    In infants with cleft lip and palate, failure to thrive (FTT) condition has largely been attributed to early feeding difficulties. Presurgical Nasoalveolar Molding (PNAM) forms an integral part of treatment modality for cleft infants in such conditions, by providing a myriad of benefits.It balances several aspects of treatment such as growth, aesthetics and function in cleft infants and also provides psychological reassurance to the parents. This clinical report describes the presurgical management of an infant with complete unilateral cleft lip and palate who was in failure to thrive condition.

  18. 20 years of cleft lip and palate missions

    PubMed Central

    Lambrecht, J. Thomas; Kreusch, Thomas; Marsh, Jeff L.; Schopper, Christian

    2014-01-01

    Volunteer missions for cleft lip and palate (CLP) care in Indonesia (1991-1992), India (1994-2003), Bhutan (2005-2010), and Kenya (2011), took place always at the same Hospital in each country. Altogether over a thousand patients were operated using a conservative protocol: Safety first - no experiments. Five months and 5 kg were the basic rules. For the native doctors, training help for self-help was priority. In the announcements, patients with CLP were primarily addressed. Burns, contractions, tumors, and trauma-cases were the second priority. Fresh trauma was done in night shifts with the local surgeons in order not to interfere. Besides facial esthetics speech was the number one issue, following priorities fell into place. Cultural aspects played a certain role in the different countries and continents. PMID:25593861

  19. 20 years of cleft lip and palate missions.

    PubMed

    Lambrecht, J Thomas; Kreusch, Thomas; Marsh, Jeff L; Schopper, Christian

    2014-01-01

    Volunteer missions for cleft lip and palate (CLP) care in Indonesia (1991-1992), India (1994-2003), Bhutan (2005-2010), and Kenya (2011), took place always at the same Hospital in each country. Altogether over a thousand patients were operated using a conservative protocol: Safety first - no experiments. Five months and 5 kg were the basic rules. For the native doctors, training help for self-help was priority. In the announcements, patients with CLP were primarily addressed. Burns, contractions, tumors, and trauma-cases were the second priority. Fresh trauma was done in night shifts with the local surgeons in order not to interfere. Besides facial esthetics speech was the number one issue, following priorities fell into place. Cultural aspects played a certain role in the different countries and continents.

  20. Oral strength in subjects with a unilateral cleft lip and palate.

    PubMed

    Van Lierde, Kristiane M; Bettens, Kim; Luyten, Anke; Plettinck, Janne; Bonte, Katrien; Vermeersch, Hubert; Roche, Nathalie

    2014-08-01

    Facial appearance and speech outcome may affect psychosocial functioning in girls and boys. Several studies reported dissatisfaction with facial appearance and more specifically the lip and mouth profile in children with cleft lip and palate (CLP). The purpose of this controlled study was to measure the tongue and lip strength and endurance in boys and girls with CLP. Twenty-five subjects (mean age: 10.6 years) with a unilateral CLP and a gender- and age- matched control group were selected. All subjects with an unilateral CLP consulted the same craniofacial team and had undergone an identical surgical procedure. Surgical procedure of the lip was performed using a modified Millard technique without primary nose correction at an average age of 5.5 months. The Iowa Oral Performance instrument was used to measure lip and tongue strength and tongue endurance. The results of the Iowa Oral Performance measurement showed no significant differences between the subjects with an unilateral cleft lip and palate and the age and gender matched control group without a cleft lip and palate. There is no significant differences regarding oral strength more specifically the lip and tongue strength and endurance between subjects with and without an unilateral cleft lip and palate. ENT specialists and speech pathologists must be aware of this aspect of the normal lip and tongue functions. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  1. Impaired FGF signaling contributes to cleft lip and palate.

    PubMed

    Riley, Bridget M; Mansilla, M Adela; Ma, Jinghong; Daack-Hirsch, Sandra; Maher, Brion S; Raffensperger, Lisa M; Russo, Erilynn T; Vieira, Alexandre R; Dodé, Catherine; Mohammadi, Moosa; Marazita, Mary L; Murray, Jeffrey C

    2007-03-13

    Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations were identified, including: one nonsense mutation (R609X) in FGFR1, a de novo missense mutation (D73H) in FGF8, and other missense variants in FGFR1, FGFR2, and FGFR3. Structural analysis of FGFR1, FGFR2, and FGF8 variants suggests that these mutations would impair the function of the proteins, albeit through different mechanisms. Genotyping of SNPs in the genes found associations between NS CLP and SNPs in FGF3, FGF7, FGF10, FGF18, and FGFR1. The data suggest that the FGF signaling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CLP.

  2. Impaired FGF signaling contributes to cleft lip and palate

    PubMed Central

    Riley, Bridget M.; Mansilla, M. Adela; Ma, Jinghong; Daack-Hirsch, Sandra; Maher, Brion S.; Raffensperger, Lisa M.; Russo, Erilynn T.; Vieira, Alexandre R.; Dodé, Catherine; Mohammadi, Moosa; Marazita, Mary L.; Murray, Jeffrey C.

    2007-01-01

    Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations were identified, including: one nonsense mutation (R609X) in FGFR1, a de novo missense mutation (D73H) in FGF8, and other missense variants in FGFR1, FGFR2, and FGFR3. Structural analysis of FGFR1, FGFR2, and FGF8 variants suggests that these mutations would impair the function of the proteins, albeit through different mechanisms. Genotyping of SNPs in the genes found associations between NS CLP and SNPs in FGF3, FGF7, FGF10, FGF18, and FGFR1. The data suggest that the FGF signaling pathway may contribute to as much as 3–5% of NS CLP and will be a consideration in the clinical management of CLP. PMID:17360555

  3. Early secondary alveoloplasty in cleft lip and palate.

    PubMed

    Arangio, Paolo; Marianetti, Tito M; Tedaldi, Massimiliano; Ramieri, Valerio; Cascone, Piero

    2008-09-01

    The aims of this study were to present a personal surgical technique throughout the review of international literature concerning surgical techniques, objectives, and outcomes in early secondary alveoloplasty and to describe our personal surgical techniques in alveolar bone defect repair in cleft lip and palate.Throughout a literature analysis, it is now settled that early secondary alveoloplasty could reestablish the continuity of alveolar bone and prevent upper dental arch collapse after presurgical orthopedic upper maxilla expansion; it also might give a good bone support for teeth facing the cleft and allow the eruption of permanent elements with the bone graft and rebalance the symmetry of dental arch, improve facial aesthetic, guarantee an adequate amount of bone tissue for a further prosthetic reconstruction with implant, and finally close the eventual oronasal fistula.The surgical technique we are presenting permitted a total number of 35 early secondary alveoloplasty on which a long-term follow-up is still taking place.We can assess that early secondary alveoloplasty must be performed before permanent canine eruption. Iliac crest is the suggested donor site for bone grafting; orthopedic and orthodontic treatments must be performed in association with surgery, and if there is the dental element agenesia, an implantation treatment must be considered.

  4. Three-dimensional digital evaluation of dental arches in infants with cleft lip and/or palate.

    PubMed

    Fernandes, Viviane Mendes; Jorge, Paula Karine; Carrara, Cleide Felício Carvalho; Gomide, Márcia Ribeiro; Machado, Maria Aparecida Andrade Moreira; Oliveira, Thais Marchini

    2015-01-01

    The aim of this study was to measure and compare the dimensions of the dental arches on three-dimensional digital study models in children with and without cleft lip and palate before the primary surgery. The sample consisted of 223 digital models of children aged 3-9 months, divided into 5 groups: without craniofacial deformities, unilateral and bilateral incomplete cleft lip and alveolus, unilateral and bilateral complete cleft lip and alveolus, unilateral cleft lip and palate, and bilateral cleft lip and palate. Dental casts of the maxillary dental arches of the children were used. The dental casts underwent a process of scanning through 3D scanner and the measurements used for the correlation among groups were made on the scanned images. Statistical analysis was performed by t test and ANOVA followed by Tukey test. The results showed that the intercanine distance and anterior cleft width was wider in children with unilateral cleft lip and palate. The intertuberosity distances and posterior cleft width was wider in children with bilateral cleft lip and palate among the groups. Children with cleft lip and palate before the primary surgery had wider maxillary arch dimensions than the children without cleft lip and palate.

  5. Congenital heart anomalies in patients with clefts of the lip and/or palate.

    PubMed

    Wyse, R K; Mars, M; al-Mahdawi, S; Russell-Eggitt, I M; Blake, K D

    1990-07-01

    The nature and severity of congenital heart disease in 78 patients who presented with clefts of the lip and/or palate is reported. The prevalence of bilateral cleft lip and palate in patients with heart lesions was much higher than in cleft patients with normal hearts. Cardiac defects were predominantly conotruncal. Tetralogy of Fallot was present in 24 percent of patients; the prevalence of transposition, atrioventricular septal defect, and truncus arteriosus was also disproportionately high. Patients with conotruncal defects had a greater prevalence of either unilateral or bilateral cleft lip and palate. Most patients with congenital heart disease and clefting had additional abnormalities. Anomalies of other systems were found to be present in 87 percent of patients.

  6. Analysis and evolution of rotation principles in unilateral cleft lip repair.

    PubMed

    Demke, Joshua C; Tatum, Sherard A

    2011-03-01

    Unilateral cleft lip repair, over the last century, has seen both revolutionary changes and subtle technical refinements. Millard's rotation/advancement technique stands among the most striking of these innovations. We review the evolution of unilateral cleft lip repair including a look at straight-line, geometric and rotation/advancement type of repairs, while looking closely at the underlying theme of rotation and how common principles are evident in differing techniques. A review of how the medial cleft lip element is lengthened in these differing approaches illustrates common principles that, if learned and applied, will aid both the novice and experienced surgeon approach repair of the unilateral cleft lip in the lifelong quest of improved outcomes. Copyright © 2010. Published by Elsevier Ltd.

  7. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    ERIC Educational Resources Information Center

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  8. Management of feeding Problem in a Patient with Cleft Lip/Palate

    PubMed Central

    Goswami, Mridula; Bhushan, Urvashi

    2016-01-01

    ABSTRACT In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  9. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    ERIC Educational Resources Information Center

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  10. 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

    2017-04-23

    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.

  11. Impressions in cleft lip and palate--a novel two stage technique.

    PubMed

    Pani, Sharat Chandra; Hedge, Amitha M

    2008-01-01

    Though the field of presurgical orthopedics for the management of children with cleft Lip and Palate (CLAP) has made great advances over the past few decades, little is found in literature regarding the imressions required to fabricate these appliances. The purpose of this paper is to describe a novel two stage technique utilizing greenstick compound and addition silicone impression material to provide a safe, economical and accurate method for recording impressions in children with cleft lip and palate.

  12. [Anesthesia in a child operated for cleft lip associated with Patau's syndrome].

    PubMed

    Kamal, Manoj; Varghese, Don; Bhagde, Jeet; Singariya, Geeta; Simon, Annie Miju; Singh, Amar

    2017-05-16

    Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age. Copyright © 2017. Publicado por Elsevier Editora Ltda.

  13. 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.

  14. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

    PubMed Central

    Laumonnier, F; Holbert, S; Ronce, N; Faravelli, F; Lenzner, S; Schwartz, C; Lespinasse, J; Van Esch, H; Lacombe, D; Goizet, C; Phan-Dinh, T; van Bokhoven, H; Fryns, J; Chelly, J; Ropers, H; Moraine, C; Hamel, B; Briault, S

    2005-01-01

    Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue Phf8 in embryonic and adult brain structures. The coded PHF8 protein harbours two functional domains, a PHD finger and a JmjC (Jumonji-like C terminus) domain, implicating it in transcriptional regulation and chromatin remodelling. The association of XLMR and cleft lip/palate in these patients with mutations in PHF8 suggests an important function of PHF8 in midline formation and in the development of cognitive abilities, and links this gene to XLMR associated with cleft lip/palate. Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects. PMID:16199551

  15. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

    PubMed

    Laumonnier, F; Holbert, S; Ronce, N; Faravelli, F; Lenzner, S; Schwartz, C E; Lespinasse, J; Van Esch, H; Lacombe, D; Goizet, C; Phan-Dinh Tuy, F; van Bokhoven, H; Fryns, J-P; Chelly, J; Ropers, H-H; Moraine, C; Hamel, B C J; Briault, S

    2005-10-01

    Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue Phf8 in embryonic and adult brain structures. The coded PHF8 protein harbours two functional domains, a PHD finger and a JmjC (Jumonji-like C terminus) domain, implicating it in transcriptional regulation and chromatin remodelling. The association of XLMR and cleft lip/palate in these patients with mutations in PHF8 suggests an important function of PHF8 in midline formation and in the development of cognitive abilities, and links this gene to XLMR associated with cleft lip/palate. Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects.

  16. Citation Characteristics of Research Articles under the Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University.

    PubMed

    Thanapaisal, Soodjai; Thanapaisal, Chaiwit; Thanapaisal, Sukhumal

    2015-08-01

    Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University, has cooperated with the Medical Association of Thailand in publishing the special five issues of JMT (Journal of the Medical Association of Thailand) during the years 2010-2014 in order to promote research activities and working network of related fields in cleft lip-cleft palate and craniofacial deformities. This study aimed to examine the features of 106 research articles in terms of authors and disciplines, and analyze the citations considering sources, country and years after publication. The scope of study also included citations in the form of journal, which was presented as journal ranking compared with impact factors and Bradford's Law on journal citation. The results of study will be useful in developing multidisciplinary research activities of the center and especially assist in the acquisition of academic journals for essential sources of reference.

  17. 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.

  18. [Analysis of psychological condition of parents with cleft lip and/or palate children].

    PubMed

    Zheng, Lei-lei; Zheng, Qian; Shi, Bing; Shi, Wen-lan

    2005-12-01

    To evaluate the psychological situations of cleft lip and/or palate children's parents, to discuss the relationship between psychological situations and cleft types, and to provide clinical treatment to improve the psychological situations of these parents. 100 parents whose children were proceeded the primary surgery treatment were selected as the study group, and other 34 parents whose children were normal as the control group. All parents were inquired and tested by the life event scale (LES) and self-rating anxiety scale (SAS). The LES total scores of the cleft lip and/or palate patients' parents were significantly high compared with the normal (P < 0.05). The SAS total scores of the cleft lip and/or palate patients' parents had no significant difference with the control group (P > 0.05). The scores of cleft lip and/or palate patients' parents were the highest and the scores of cleft palate patients' parents were the lowest. Most of the cleft lip and/or palate patients' parents were disturbed by a negative psychological situation. Some kind of negative psychological situation may manifest some body symptoms. Meanwhile,the three subgroups' data had the significant difference, which indicated that parents may much more care about the appearance abnormality.

  19. Evaluation of unilateral cleft lip and palate using anthropometry measurements post-alveolar bone grafting

    NASA Astrophysics Data System (ADS)

    Simorangkir, H. J.; Hak, M. S.; Tofani, I.

    2017-08-01

    Rehabilitation of patients with unilateral cleft lip and palate (UCLP) requires multiple steps and coordination of multidisciplinary sciences to produce optimal results. Alveolar bone-grafting (ABG) is an important procedure in the treatment of such patients because it influences the eruption of teeth and stabilizes the maxilla. To evaluate the effect and suitability of alveolar bone grafting procedure at Cleft Center Harapan Kita Maternal and Child Hospital on nasal deformity from anthropometry with photogrammetry and aesthetic proportional in patients with unilateral cleft lip and palate with UCLP. Patients with UCLP were evaluated post-ABG using anthropometry and photogrammetry to investigate the results anteriorly, laterally, and basally. Anthropometric measurements taken photogrammetrically used 14 points and 11 distance items. Evaluations were made of upper lip length, upper lip projection, and nostril sill elevation for both the cleft and non-cleft sides of patients’ faces. A t-test showed that the values for upper lip length and projection were significantly increased, and a correction test using a Fisher exam gave a value of 1. The ABG treatment protocol for patients with UCLP at the Cleft Lip and Palate Unit at Harapan Kita Maternal and Child Hospital is suitable to be performed; it aesthetically satisfies patients and their families.

  20. Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

    PubMed

    Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

    2015-01-01

    Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P < .05) compared with typically developing children. Spearman correlation analyses revealed different relationships between the cognitive-linguistic and spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols.

  1. Change in upper lip height and nostril sill after alveolar bone grafting in unilateral cleft lip alveolus patients.

    PubMed

    Kim, Suk Wha; Park, Seong Oh; Choi, Tae Hyun; Hai, Do Ten

    2012-05-01

    Alveolar bone grafting is known to reduce nasal asymmetry by supporting a defective alar base and a sunken nostril. However, there are no studies which include details of changes to the upper lip with appropriate measurements. The purpose of this study was to measure the change in the upper lip height and nostril sill after alveolar bone grafting, using photogrammetry. The study included 18 unilateral cleft lip alveolus (UCLA) patients who were diagnosed with unilateral cleft lip and palate (mean age, 9.87 years). The patients underwent alveolar bone grafting with iliac bone between June 2007 and June 2008. The average follow-up period was 16.6 months. The average bone graft volume was 2.39 cm(3). We obtained photographs of the frontal, lateral and basal views using standardised photographic techniques. We defined 14 landmarks and measured the distance of 11 points (distance items) for the determination of upper lip height, upper lip projection and nostril sill elevation. We defined the proportion index as the ratio of the cleft side to non-cleft side or reference line (R). We compared the preoperative proportion index with the postoperative proportion index for each distance items. The height of the upper lip increased significantly in four of five distance items. The projection of the upper lip was more prominent, but it was not statistically significant. The nostril sill was significantly elevated in all four distance items. The height of the upper lip was elongated and the nostril sill was elevated after alveolar bone grafting in UCLA patients. Copyright © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  2. Comparison of tooth development stage of the maxillary anterior teeth before and after secondary alveolar bone graft: Unilateral cleft lip and alveolus vs unilateral cleft lip and palate.

    PubMed

    Park, Heon-Mook; Han, Dong-Hun; Baek, Seung-Hak

    2014-11-01

    To compare the effect of secondary alveolar bone graft (SABG) on the tooth development stage of the maxillary central incisor (MXCI) and maxillary canine (MXC) in terms of the severity of unilateral cleft. The subjects consisted of 50 boys with unilateral cleft lip and alveolus (UCLA) or unilateral cleft lip, alveolus, and palate (UCLP). The age- and sex-matched subjects were divided into group 1 (UCLA, n = 25; 9.3 ± 0.8 years old) and group 2 (UCLP, n = 25; 9.4 ± 0.6 years old). In panoramic radiographs taken 1 month before (T0) and 1 year after SABG (T1), tooth development stage was evaluated according to the Nolla developmental (ND) stage. A panoramic radiograph taken 3 years after SABG was used as a reference for the final root length of individual tooth. In groups 1 and 2, the ND stage of the MXCI did not exhibit differences between the cleft and non-cleft sides at T0 and T1, respectively. However, although the ND stage of the MXC of group 2 was delayed on the cleft side compared with the non-cleft side at T0 (P < .05), the MXC on the cleft side developed faster than that on the non-cleft side after SABG (P < .01). In terms of tooth development speed, group 2 showed a higher rate of faster developed MXCs on the cleft side compared with the non-cleft side after SABG than group 1 (36.0% vs 8.0%, P < .05). SABG performed at approximately 9 years of age might increase tooth development speed of MXC in patients with UCLP compared with patients with UCLA.

  3. The Young Child with Cleft Lip and Palate: Intervention Needs in the First Three Years.

    ERIC Educational Resources Information Center

    Edmonson, Rebecca; Reinhartsen, Debra

    1998-01-01

    Discusses the multiple medical, dental, therapeutic, psychosocial, and early intervention needs faced by children with cleft lip and cleft plate during the first three years of life. The physiological development of children with these disabilities is described and the need for interdisciplinary team involvement is emphasized. (Author/CR)

  4. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  5. The Young Child with Cleft Lip and Palate: Intervention Needs in the First Three Years.

    ERIC Educational Resources Information Center

    Edmonson, Rebecca; Reinhartsen, Debra

    1998-01-01

    Discusses the multiple medical, dental, therapeutic, psychosocial, and early intervention needs faced by children with cleft lip and cleft plate during the first three years of life. The physiological development of children with these disabilities is described and the need for interdisciplinary team involvement is emphasized. (Author/CR)

  6. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  7. Assessment of differentially expressed plasma microRNAs in nonsyndromic cleft palate and nonsyndromic cleft lip with cleft palate

    PubMed Central

    Li, Qian; Chen, Ling; Gao, Yanli; Yan, Hui; Zhou, Bei; Li, Jun

    2016-01-01

    Plasma microRNAs (miRNAs) have recently emerged as a new class of regulatory molecules that influence many biological functions. However, the expression profile of plasma microRNAs in nonsyndromic cleft palate (NSCP) or nonsyndromic cleft lip with cleft palate (NSCLP) remains poorly investigated. In this study, we used Agilent human miRNA microarray chips to monitor miRNA levels in three NSCP plasma samples (mixed as the CP group), three NSCLP plasma samples (mixed as the CLP group) and three normal plasma samples (mixed as the Control group). Six selected plasma miRNAs were validated in samples from an additional 16 CP, 33 CLP and 8 healthy children using qRT-PCR. Using Venn diagrams, distinct and overlapping dysregulated miRNAs were identified. Their respective target genes were further assessed using gene ontology and pathway analysis. The results show that distinct or overlapping biological processes and signalling pathways were involved in CP and CLP. Our study showed that the common key gene targets reflected functional relationships to the Notch, Wnt, phosphatidylinositol and Hedgehog signalling pathways. Further studies should examine the mechanism of the potential target genes, which may provide new avenues for future clinical prevention and therapy. PMID:27863433

  8. Evaluation of the intercanine distance in newborns with cleft lip and palate using 3D digital casts

    PubMed Central

    MELLO, Bianca Zeponi Fernandes; FERNANDES, Viviane Mendes; CARRARA, Cleide Felício Carvalho; MACHADO, Maria Aparecida Andrade Moreira; GARIB, Daniela Gamba; OLIVEIRA, Thais Marchini

    2013-01-01

    Objective The purpose of this present study was to compare, by means of 3D digital casts, the anterior transverse dimension of the dental arch of newborns with and without cleft lip and palate. Material and Methods The sample was composed of ninety-four children aged from 3 to 9 months divided into three study groups: Group I - children without craniofacial deformities (control group); Group II - children with unilateral cleft lip and palate; Group III - children with bilateral cleft lip and palate. Impressions were executed before lip and palate repair in patients with clefts. Dental casts were digitized using a 3D scanner linked to a computer. Measurements of the intercanine distance were measured on the digital casts. Intergroup comparisons were performed using ANOVA (p<0.05). Results The results showed a mean of 36.5 mm for unilateral cleft lip and palate group, 34.8 mm for bilateral cleft lip and palate group and 27.52 mm for the control group. There was a statistically significant difference between the control group and both groups of patients with cleft lip and palate. There was no statistically significant difference between complete unilateral and bilateral cleft lip and palate groups. Conclusions Patients with complete cleft lip and palate were born with an increased anterior dimension of the maxillary dental arch compared to non cleft patients. PMID:24212990

  9. Proteomic Analysis of RBP4/Vitamin A in Children with Cleft Lip and/or Palate.

    PubMed

    Zhang, J; Zhou, S; Zhang, Q; Feng, S; Chen, Y; Zheng, H; Wang, X; Zhao, W; Zhang, T; Zhou, Y; Deng, H; Lin, J; Chen, F

    2014-06-01

    Cleft of the lip and/or palate (CLP) is one of the most common congenital craniofacial defects. Non-syndromic CLP (NSCLP) is a multifactorial disease influenced by the interaction of genetic and environmental factors. However, there are few studies reporting on the developmental or metabolic status of babies with NSCLP after birth. In our study, we sought to identify and evaluate the differential expression of serum protein profiles in NSCLP children and unaffected babies. Thus, a 'shotgun proteomics' approach was first used to analyze the plasma proteome of 13 children with NSCLP and 10 control children, aged 2 to 3.5 years. In total, more than 300 proteins were identified in the serum sample. With gene ontology (GO) analysis, we detected many differentially expressed proteins that could be related to NSCLP, including those involved in lipoprotein metabolism, insulin-like growth-factor-related processes, and so on, especially the proteins involved in retinol transport. Retinol binding protein 4 (RBP4), one protein of the retinol transport category, was significantly decreased in the NSCLP group. Thus, serum vitamin A levels were further determined by high-performance liquid chromatography (HPLC). A significant difference (p < .01) was also found in vitamin A concentrations, consistent with the trend of RBP4. Our results indicated that reduced levels of RBP4 and vitamin A were related to newborns with NSCLP and should thus receive more attention. These results also suggest that vitamin A supplementation might be necessary at an early stage.

  10. Incidence of cleft lip and palate in the northeast of Mexico: a 10-year study.

    PubMed

    Blanco-Davila, Feliciano

    2003-07-01

    In Latin American countries, studies on the incidence of cleft lip and palate are not widely available. A 10-year retrospective study was carried out to determine the incidence of cleft lip and palate at the Autonomous University of Nuevo Leon's University Hospital. The study included data from patients who attended the plastic surgery outpatient clinic from January 1990 to December 1999. The author reviewed 10,843 files from which 376 patients were selected to identify the following variables: time of the year in which the first consultation took place, gender, birthplace, type of cleft, age of both parents, and medications taken during pregnancy. The highest incidence was found in patients aged 1 to 6 months. Ninety-four patients had a primary palate cleft; 76 had a secondary palate cleft; and 206 had primary and secondary palate clefts. The gender distribution of the 206 patients with primary and secondary clefts was 127 boys and 79 girls. The mean parent age was 29.5 years (father) and 25.7 years (mother). The incidence of cleft lip and palate in the cited hospital was 1.1:1000 births. Clefts of the left side occurred more often than of the right. Boys were affected more commonly than girls.

  11. Three-Dimensional Analysis of Nasal Symmetry Following Primary Correction of Unilateral Cleft Lip Nasal Deformity.

    PubMed

    Linden, Olivia E; Taylor, Helena O; Vasudavan, Sivabalan; Byrne, Margaret E; Deutsch, Curtis K; Mulliken, John B; Sullivan, Stephen R

    2016-07-21

      To evaluate nasal symmetry using three-dimensional photogrammetry following primary tip rhinoplasty with or without an internal splint in patients with unilateral complete cleft lip/palate.   We captured three-dimensional images of patients with unilateral complete cleft lip/palate who underwent nasolabial repair by rotation-advancement of the lip and primary tip rhinoplasty, either with or without an internal resorbable splint, and normal control subjects. We assessed nasal symmetry by identifying the plane of maximum symmetry and the root-mean-square deviation between native and reflected surfaces.   We imaged 38 controls and 38 subjects with repaired unilateral complete cleft lip/palate (20 with, 18 without an internal splint).   Nasal asymmetry root-mean-square deviation clustered between 0.19 and 0.50 mm (median = 0.24 ± 0.08 mm) for controls; whereas, those with repaired unilateral complete cleft lip/palate ranged from 0.4 to 1.5 mm (median = 0.75 ± 0.40 mm). Although root-mean-square deviation ranges overlapped, patients with repaired unilateral complete cleft lip/palate had significantly greater asymmetry than controls (P < .001). We found no difference in asymmetry between patients with or without an internal splint (P = .5).   Three-dimensional photogrammetry was used to successfully compare symmetry among different patient and control groups. Although "normal" nasal symmetry was attained in some patients following cleft lip/nasal repair, most had persistent asymmetry compared with normal controls. Placement of a resorbable internal splint did not improve symmetry in patients with unilateral complete cleft lip/palate.

  12. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    PubMed Central

    Moreno, Lina M.; Mansilla, Maria Adela; Bullard, Steve A.; Cooper, Margaret E.; Busch, Tamara D.; Machida, Junichiro; Johnson, Marla K.; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'Heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; López, Ana Maria; Moreno, Manuel A.; Hing, Anne; Lammer, Edward J.; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T.; Jugessur, Astanand; Wilcox, Allen J.; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.

    2009-01-01

    Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22–q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22–q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22–q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E − 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E − 13) and rs4460498 (P = 6.51E − 12), were located inside a 70 kb high linkage disequilibrium block containing FOXE1. Association signals for Caucasians and Asians clustered 5′ and 3′ of FOXE1, respectively. Isolated cleft palate (CP) was also associated, indicating that FOXE1 plays a role in two phenotypes thought to be genetically distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. PMID:19779022

  13. Cleft lip and palate due to deficiency of mesencephalic neural crest cells.

    PubMed

    van Limborgh, J; Lieuw Kie Song, S H; Been, W

    1983-07-01

    The mesencephalic crest was partially eliminated in chick embryos by means of tangential microlaser. The heads of the surviving embryos were serially sectioned and microscopically studied. A deficiency of mesenshyme in the anlage of the maxillary process was observed in 4 of the 42 embryos sacrificed after 24 hours, on the side of irradiation. Among the 99 surviving embryos sacrificed at the ages of 7 or 12 days, 26 showed a unilateral cleft lip, a wide palatal cleft or a combination of these anomalies. It is concluded that cleft lip and palate can result from insufficient growth of the mesenchyme in the maxillary process caused by partial deficiency of mesencephalic neural crest cells.

  14. 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.

  15. Enhancing accessibility of patients with cleft lip/palate to healthcare services via a cleft birth registration system.

    PubMed

    Volrathongchai, Kanittha; Chowchuen, Bowornsilp; Pradubwong, Suteera

    2014-10-01

    Cleft lip/palate is a critical health problem in Thailand; with an incidence rate of 2.49/1,000 live births. To insure the best outcomes, surgery should be performed near the age of three months. However; during the years 1993-2007, only 39.7% of children with a cleft lip/palate underwent an operation by the age of 3-4 months and only 58.18% by the age of 9-12 months. The purpose of the study is to determine if a cleft birth registry might facilitate timely and proper treatment for children with a cleft lip/palate. A pilot cleft birth registry, developed by the Tawanchai Cleft Center, was made available to hospitals in Khon Kaen, Roi-et, Kalasin, and Mahasarakam provinces, Thailand. Ninety-eight personnel involved in the care of children with a cleft lip/palate were recruited from the participating hospitals to evaluate the system. Assigned to one offour focus groups, participants were asked to evaluate the pilot system in terms of satisfaction and benefit. Following the focus groups, those participants that were traditionally responsible for registration were asked to use the cleft birth registry to register any newborns with a cleft lip/palate that were encountered in the course of their duties. Records were examined to determine how many newborns were properly registered and for those registered, whether proper care was received in a timely manner With 78 focus group participants responding to the satisfaction survey, results indicated mostly high levels of satisfaction with 26 (33%) participants rating satisfaction as very good, 49 (63%) as good and 3 (4%) as fair No participant rated satisfaction below fair. Furthermore, a majority stated that the cleft birth registy would benefit patients and contribute to timely treatment. During two years of active use, one hundred and thirty-seven newborns with a cleft lip/palate were registered into this cleft birth registry. Subsequent examination showed that eighty-eight percent ofregistered cases received proper

  16. Early hard palate closure using a vomer flap in unilateral cleft lip and palate: effects on cleft width.

    PubMed

    de Jong, Johanna P; Breugem, Corstiaan C

    2014-05-01

    Although no universal consensus exists on treatment of cleft palates, early hard palate closure is commonly performed. The aim of the present study was to determine the influence of a vomer flap for early hard palate closure on residual palatal cleft width in patients with a unilateral complete cleft lip and palate (UCLP). Forty-seven UCLP patients were retrospectively divided into two groups. Group A consisted of 25 patients who underwent early lip closure and simultaneous hard palate closure using a vomer flap. Group B included 22 patients who had lip closure only at first surgery. Palatal cleft widths of both groups were measured at two time points and were compared using the Mann-Whitney U test to examine the influence of vomerplasty in this very early stage. No significant difference of baseline characteristics between the groups was found, and comparison of age at the time of surgeries was not significantly different. Mean age at the time of vomerplasty was 4.0 months. After the first surgery, a significantly greater total cleft width reduction of 5.0 mm average was found in group A compared to only 1.5 mm reduction in group B. This reduction took place after an average of 7.1 and 7.0 months, respectively. Lip closure accompanied by early hard palate closure using a vomer flap is associated with a significant postoperative reduction of the residual cleft when compared to lip closure only. This study shows another great advantage of performing early hard palate closure using a vomer flap.

  17. Reaction to the birth of a child with cleft lip or cleft palate in Zimbabwe.

    PubMed

    Mzezewa, S; Muchemwa, F C

    2010-07-01

    Cleft lip and palate (CLP) is often a distressful abnormality for both mother and child. In our setting, CLP is generally associated with witchcraft or ancestral spirits. The mother is often accused of infidelity during pregnancy. We wanted to determine the feelings of parents and the wider public towards CLP babies, to establish what parents believed were the causes of CLP and to establish the postpartum marital status. One hundred and twenty-four parents were prospectively included in the study. They were interviewed using a structured questionnaire. One hundred and fifteen mothers and four fathers said they loved their babies. Thirty-eight parents attributed CLP to witchcraft. Nineteen percent of the mothers were divorced. The responses to our questionnaire show that although CLP babies are loved by their parents, the condition is associated with stigma and superstition.

  18. Pre: Surgical orthopedic pre-maxillary alignment in bilateral cleft lip and palate patient

    PubMed Central

    Ellore, Vijaya Prasad Kamavaram; Ramagoni, Naveen Kumar; Taranatha, Mahantesha; Nara, Asha; Gunjalli, Gururaj; Bhat, Ashwin Devasya

    2012-01-01

    Pre-surgical orthopedic appliances are mainly used to retract and align the protruded and deviated pre-maxilla and to facilitate initial lip repair. This article presents a case report of a five year old male child patient with bilateral cleft lip and palate in whom a special custom made pre-surgical orthopedic appliance was delivered. Use of a special custom made presurgical orthopedic appliance for repositioning pre-maxilla in bilateral cleft lip and palate patient is discussed in this article. PMID:23293501

  19. An intraoral appliance for management of the protrusive premaxilla in bilateral cleft lip.

    PubMed

    Reisberg, D J; Figueroa, A A; Gold, H O

    1988-01-01

    Management of the protruding premaxilla and prolabium in bilateral cleft lip and palate can be a confounding problem. This report introduces an intraoral traction appliance that has been successfully used to move the premaxilla and prolabium to a more favorable position for surgical repair of the bilateral cleft lip. The appliance consists of a palatal baseplate for anchorage and a latex rubber traction strip looped over the prolabium to retract the premaxillary segment. The results in five cases are presented and compared to two cases where no presurgical management was performed and lip repair had been delayed for medical reasons. Advantages and disadvantages of the appliance are discussed.

  20. Occlusal Disorders among Patients with Total Clefts of Lip, Alveolar Bone, and Palate

    PubMed Central

    Paradowska-Stolarz, Anna

    2014-01-01

    Clefts are common birth defects. They are accompanied by various malformations, including disturbances in facial look as well as skeletal disorders that include malocclusions, most frequently crossbites and class III anomalies. The aim of the study was to present the commonest malocclusions in patients with total cleft of the lip, alveolar bone and palate (n = 154) and compare the results to the healthy on-cleft patients (n = 151). Normal occlusion, characteristic for I angle class, was observed in 50% of the control group and 30% of the examined. In the examined patients with clefts, most frequently crossbite and open bite on the cleft side was observed. In patients with clefts, only 2 out of 154 patients presented isolated dental anomalies. In healthy individuals the commonest occlusal disorder was distal occlusion and dental anomalies. The commonest malocclusions among patients with clefts are crossbites and class III malocclusions. PMID:24982898

  1. [Integrated treatment of cleft lip and palate. Organization of a treatment team].

    PubMed

    Sánchez-Ruiz, I; González Landa, G; Pérez González, V; Díez Rodríguez, R; López-Cedrún, J L; Miró Viar, J; García Miñaur, S; de Celis Vara, R; Sánchez Fernández, L

    1999-01-01

    Collect the team experience in the treatment of children with cleft lip and palate, indicating the evolution of the team composition, advantages and improvement aspects, trying to transmit the need of team treatment. The Bilbao cleft palate team was created in 1983, since then a cleft palate clinic, a parents group and a unit of velopharyngeal function has been developed. At present the team is composed by: pediatric reconstructor surgeon, speech therapist, orthodontist, dentist, pediatrician, ENT, maxillofacial surgeon, dismorphologyst, geneticist, nursing. One of the achievements has been the data unification, obtaining speech cephalometrics, photographic dental casts and video images with prospective view. At this time 403 cleft lip and palate children have been intervened, being essential the transdisciplinar team approach between surgeon, speech therapist and orthodontist. The importance of the team coordinator is pointed. The results of an audit of the two stage cleft palate closure in complete unilateral cleft lip and palate have obligated us to vary our surgical policy. The unresolved aspects are the lack of multidisciplinary team recognition at official level and the non existence of orthodontist in staff, without cost coverage of this treatment by public health system. In our experience the team treatment of cleft lip and palate has resulted in improvement of the clinic results, treatment protocols and training.

  2. The Nasolabial Angle Among Patients with Total Cleft Lip and Palate.

    PubMed

    Paradowska-Stolarz, Anna M; Kawala, Beata

    2015-01-01

    Nasolabial angle is the angle that is measured between points columella, subnasale and labiale superius. The reference values vary from 90 to 120 degrees (the mean value is 109.8 degrees). In some disorders, nasolabial angle might change. This influences the facial profile. One of such deformities are clefts. The nasolabial angle might be decreased in cleft patients due to deformation of the nose and upper lip that might be caused by the reconstructive surgical procedures performed. The aim of the study was to compare the nasolabial angle between the groups of patients with total clefts of the lip, alveolar bone and palate and healthy individuals. The cephalometric X-rays of 118 patients with clefts (73 boys and 45 girls) and 101 healthy individuals (32 boys and 69 girls) were taken into account to measure nasolabial angle and compared. In patients with cleft deformities, the nasolabial angle values were smaller than in healthy individuals. Among the patients with clefts, the ones with a bilateral type of deformity are characterized by the highest mean values of nasolabial angle. The angle is smaller in groups of girls when compared to boys. Nasolabial angle in patients with total clefts of lip, alveolar bone and palate is statistically smaller than in healthy individuals. This might be a result of either the deformation of the upper lip or (more probably) the nose. The orthodontic treatment should be individualized.

  3. Treatment of 4-5 year old patients with cleft lip and cleft palate in Tawanchai Center: prevalence and type of associated malformations.

    PubMed

    Pradubwong, Suteera; Pongpagatip, Sumalee; Pathumwiwatana, Pornpen; Kiatchoosakun, Pakaphan; Panamonta, Manat; Chowchuen, Bowornsilp

    2014-10-01

    Patients with cleft lip/palate may have other associated malformations but the reported prevalence and type of associated malformations varied between different studies. To report the prevalence and the type of associated malformations in Northeastern Thai patients with cleft lip/palate. A retrospective study of 123 cleft lip/palate patients aged 4-5 years was carried out at the Tawanchai Cleft Center, Khon Kaen University during the periodfrom October to December 2011. Data were collected by reviewing the patients medical records. Seventeen (14%) of the 123patients had associated malformations. Four (21%) of the 19patients with cleft palate, eleven (15%) of the 74 patients with clefts lip and palate, and two (7%) of the 30 patients with cleft lip had associated malformations. The organ systems affected by associated malformations were cardiovascular system (41%), craniofacial anomaly (23%), skeletal system (12%), urogenital system (12%) and central nervous systemn (12%). Atrial septal defect and tetralogy ofFallot were most common associated cardiovascular malformation found. The high prevalence of associated malformationsfound in patients with cleft lip/palate emphasizes the needfor a thorough screening of associated malformations and congenital heart disease ofall cleft lip/palatepatients.

  4. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk

    PubMed Central

    Dong, Lijia; Ma, Lian

    2015-01-01

    The transforming growth factor alpha (TGFA) Taq I polymorphism has been indicated to be correlated with cleft lip with or without cleft palate (CL/P) susceptibility, but study results are still debatable. Thus, a meta-analysis was conducted. We conducted a comprehensive search of Embase, Ovid, Web of Science, the Cochrane database, PubMed, the Chinese Biomedical Literature Database (CBM-disc, 1979-2014), the database of National Knowledge Infrastructure (CNKI, 1979-2014) and the full paper database of Chinese Science and Technology of Chongqing (VIP, 1989-2014) to identify suitable studies. There were 18 studies suitable for this meta-analysis, involving a total of 3135 cases and 3575 controls. Significantly increased CL/P risk was observed (OR = 1.49; 95% CI 1.17-1.89; P = 0.001). In subgroup analyses stratified by ethnicity, there was evidence in the Caucasian population for an association between this polymorphism and CL/P risk (OR = 1.52; 95% CI 1.14-2.02; P = 0.004). However, no significant association was found between this his polymorphism and CL/P risk in African and Hispanic populations. According to a specific CL/P type, increased clip lip and palate risk and clip palate risk were found (OR = 1.38; 95% CI 1.10-1.73; P = 0.005; OR = 1.29; 95% CI 1.01-1.66; P = 0.042). In conclusion, the present meta-analysis found that the TGFA Taq I polymorphism may be associated with CL/P susceptibility. PMID:26064247

  5. Cleft lip with or without cleft palate in Shanghai, China: Evidence for an autosomal major locus

    SciTech Connect

    Marazita, M.L. ); Hu, Dan-Ning; Liu, You-E. ); Spence, A. ); Melnick, M. )

    1992-09-01

    Orientals are at higher risk for cleft lip with our without cleft palate (CL[+-] P) than Caucasians or blacks. The authors collected demographic and family data to study factors contributing to the etiology of CL[+-]P in Shanghai. The birth incidence of nonsyndromic CL[+-]P (SHanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL[+-]P probands were ascertained from individuals operated on during the years 1956-83 at surgical hospitals in Shanghai. Detailed family histories and medical examinations were obtained for the probands and all available family members. Genetic analysis of the probands' families were performed under the mixed model with major locus (ML) and multifactorial (MFT) components. The hypothesis of no familial transmission and of MFT alone could be rejected. Of the ML models, the autosomal recessive was significantly most likely and was assumed for testing three complex hypothesis: (1) ML and sporadics; (2) ML and MFT; (3) ML, MFT, and sporadics. None of the complex models were more likely than the ML alone model. In conclusion, the best-fitting, most parsimonious model for CL[+-]P in Shanghai was that of an autosomal recessive major locus. 37 refs., 1 tab.

  6. Psychological profile of Chinese with cleft lip and palate deformities.

    PubMed

    Cheung, Lim K; Loh, John Ser Pheng; Ho, Samuel M Y

    2007-01-01

    To assess the psychological well-being of patients with cleft lip and palate (CLP). Ninety-four Chinese CLP subjects between 10 and 40 years of age were recruited from the Discipline of Oral and Maxillofacial Surgery, The University of Hong Kong, between June and December 2003. They were divided into two groups for comparison: adolescents (10-16 years old) and adults (17- 40 years old). A control group of 116 healthy non-CLP patients was also recruited during the same period. All CLP and non-CLP patients were asked to complete a set of four questionnaires to assess their psychological status. The questionnaires included the Social Avoidance and Distress Scale, the Satisfaction with Life Scale, the Culture-Free Self-Esteem Inventory, and the Chinese Miller Behavioral Style Scale. Chinese CLP patients exhibited levels of subjective well-being and social anxiety that were similar to the published levels of a group of British CLP patients. They also had significantly lower general and social self-esteem but higher parental self-esteem than the non-CLP control group. CLP patients were generally satisfied with life and did not exhibit more social anxiety than the non-CLP control group. They also had a good relationship with their parents. Gender and educational level had no influence on their psychological profile. However, these CLP patients had lower self-esteem than non-CLP patients.

  7. Social motivation in individuals with isolated cleft lip and palate.

    PubMed

    van der Plas, Ellen; Koscik, Timothy R; Conrad, Amy L; Moser, David J; Nopoulos, Peg

    2013-01-01

    Social isolation is common among individuals with isolated cleft lip and palate (ICLP), but the available data on why this may be are mixed. We present a novel theory relating to reduced social motivation in ICLP, called the social abulia hypothesis. Based on this hypothesis, we predicted that reduced social motivation would lead to reduced responsiveness to negative social feedback, in terms of both explicit responses and noncontrolled, psychophysiological responses. Twenty males with ICLP and 20 normal comparison males between 13 and 25 years old participated in the study. Social motivation was examined by measuring participants' response to negative social feedback (social exclusion). Additionally, psychophysiological reactivity to positive and negative social stimuli was measured. In order to rule out other potential contributors to social isolation, we tested basic social perception, emotion recognition, and social anxiety. In line with the social abulia hypothesis, we show that negative social feedback had less of an effect on males with ICLP than on healthy male peers, which was evident in explicit responses and noncontrolled, psychophysiological responses to negative social feedback. Our results could not be attributed to problems in social perception, a lack of understanding facial expressions, or increased social anxiety, as groups did not differ on these constructs. This study suggests that current views on social isolation in ICLP may need to be reconsidered to include the possibility that isolation in this population may be the direct result of reduced social motivation.

  8. The Effect of Cleft Lip on Adults' Responses to Faces: Cross-Species Findings

    PubMed Central

    Parsons, Emma; Dean, Annika; Murray, Lynne; Goodacre, Tim; Dalton, Louise; Stein, Alan; Kringelbach, Morten L.

    2011-01-01

    Cleft lip and palate is the most common of the congenital conditions affecting the face and cranial bones and is associated with a raised risk of difficulties in infant-caregiver interaction; the reasons for such difficulties are not fully understood. Here, we report two experiments designed to explore how adults respond to infant faces with and without cleft lip, using behavioural measures of attractiveness appraisal (‘liking’) and willingness to work to view or remove the images (‘wanting’). We found that infants with cleft lip were rated as less attractive and were viewed for shorter durations than healthy infants, an effect that was particularly apparent where the cleft lip was severe. Women rated the infant faces as more attractive than men did, but there were no differences in men and women's viewing times of these faces. In a second experiment, we found that the presence of a cleft lip in domestic animals affected adults' ‘liking’ and ‘wanting’ responses in a comparable way to that seen for human infants. Adults' responses were also remarkably similar for images of infants and animals with cleft lip, although no gender difference in attractiveness ratings or viewing times emerged for animals. We suggest that the presence of a cleft lip can substantially change the way in which adults respond to human and animal faces. Furthermore, women may respond in different ways to men when asked to appraise infant attractiveness, despite the fact that men and women ‘want’ to view images of infants for similar durations. PMID:22016785

  9. Pre Surgical Nasoalveolar Molding: Changing Paradigms in Early Cleft Lip and Palate Rehabilitation

    PubMed Central

    Murthy, Prashanth Sadashiva; Deshmukh, Seema; Bhagyalakshmi, A; Srilatha, KT

    2013-01-01

    Background: Alveolar and nasal reconstruction for patients with cleft lip and palate is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap so as to obtain esthetic results post surgically. Yet there is need of continuous exploration of newer and better methods. Rehabilitation of cleft lip and palate generally requires a team approach with paedodontists playing a major role of performing nasoalveolar molding. Presurgical Nasoalveolar Molding (PNAM) was introduced to reshape the alveolar and nasal segments prior to surgical repair. Over the time there have been changes in the concepts of the same. To assess these changing concepts a pubmed search was performed with different related terminologies and articles over a period of 30 years were obtained. Among the articles retrieved, studies performed over different concepts in early management of cleft lip and palate was selected for the systematic review. Aims This paper describes the changing paradigms in the management of patients with cleft lip and palate, focuses on the current concept of Presurgical nasoalveolar molding(PNAM) and discusses the long term benefits of the same. Conclusion The concept of the management of cleft lip and palate has changed over the time with more emphasis on the nasal and alveolar molding prior to the primary lip repair. This molding reduces the number reconstructive surgeries performed later for the purpose of esthetics. How to cite this article: Murthy P S, Deshmukh S, Bhagyalakshmi A, Srilatha K T. Pre Surgical Nasoalveolar Molding: Changing Paradigms in Early Cleft Lip and Palate Rehabilitation. J Int Oral Health 2013; 5(2):76-86. PMID:24155594

  10. Changing perspectives in cleft lip and palate: from acrylic to allele.

    PubMed

    Tollefson, Travis T; Senders, Craig W; Sykes, Jonathan M

    2008-01-01

    Cleft lip and palate deformities are the most common congenital abnormalities of the head and neck. Advancements in the various multidisciplinary fields involved in cleft management have substantially improved functional and aesthetic outcomes. The legitimacy of such controversial topics as gingivoperiosteoplasty, primary rhinoplasty, and presurgical nasoalveolar molding is heavily contested. Bone morphogenetic protein and other recombinant growth factors may play important roles in future cleft care. As the candidate alleles that contribute to cleft lip and palate are further elucidated, the complex interplay of environmental influence and genetic predisposition is emphasized. Translational research from fields such as fetal wound healing, tissue engineering, and gene therapy may have clinical applications as cleft care continues to evolve.

  11. Effects of cleft lip and palate on the development of permanent upper central incisors: a cone-beam computed tomography study.

    PubMed

    Celebi, Ahmet A; Ucar, Faruk I; Sekerci, Ahmet E; Caglaroglu, Murat; Tan, Enes

    2015-10-01

    The aim of this study was to evaluate 1. the differences among the cleft sides of unilateral cleft lip and palate (UCLP) patients, non-cleft sides of the same UCLP patients and well matched control patients in the root development and position of permanent upper central incisors and 2. possible gender differences. The study sample consisted of 40 patient (20 males and 20 females; mean age: 14.84±3.2 years) with non-syndromic UCLP patients, and 40 control patients (20 males and 20 females; mean age: 13.38±1.6 years). Cone-beam computed tomography (CBCT) images were taken off from all patients. All tomographs were obtained in supine position by using CBCT (NewTom 5G, QR, Verona, Italy). Significant smaller root volume of central incisor was observed on the cleft side than on the non-cleft side of UCLP patients (P < 0.05). No significant difference in the root development and position of the central incisors was found between the non-cleft side of the UCLP and the control group (P > 0.05). There were no statistically significant gender differences in any linear, angular, or volumetric measurements (P > 0.05). Only the root volume of the cleft side was smaller in females than in males (P < 0.05). In general, root volumes of central incisors on the cleft side were 12.15 per cent smaller than non-cleft side. Root development of the central incisor was much more influenced by the cleft in females than in males. © The Author 2014. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  12. A 20-year experience in unilateral cleft lip repair: From Millard to the triple unilimb Z-plasty technique

    PubMed Central

    Rossell-Perry, Percy

    2016-01-01

    Background: This study describes a 20-year experience of treating patients with unilateral cleft lip. During this time, various techniques were used including Millard's technique and its modification and two types of geometrically designed procedures. The study objective was to compare surgical outcomes of different surgical techniques for unilateral cleft lip repair. Materials and Methods: This is a retrospective audit of outcomes after unilateral cleft lip repair performed by a single surgeon since 1995. Of the 827 patients who underwent surgery, 277 met the criterion of having anthropometric measurements performed ≥1 year postoperatively. The patients were stratified into three groups according to cleft severity: incomplete, complete with less deficiency (3–6 mm difference between cleft and non-cleft lip height) and complete with more deficiency (>6 mm difference between cleft and non-cleft lip height). Anthropometric measurements, scar assessment and complications were recorded. Results: There were no differences in outcomes between Millard and Reichert-Millard techniques for incomplete unilateral cleft lip. For complete unilateral cleft lip and less tissue deficiency, lip symmetry was better using upper rotation advancement plus double unilimb Z-plasty than the Reichert-Millard technique. For complete unilateral cleft lip and more tissue deficiency, lip symmetry was better after triple unilimb Z-plasty than after upper rotation advancement plus double unilimb Z-plasty. Conclusions: We presented a 20-year experience performing unilateral cleft lip repair. An individualised classification system with corresponding surgical techniques was successfully used during this period. The individualised surgical protocol used in this study allowed us to achieve improved surgical outcomes. PMID:28216814

  13. Scandcleft randomised trials of primary surgery for unilateral cleft lip and Palate: 9. Parental report of social and emotional experiences related to their 5-year-old child's cleft diagnosis.

    PubMed

    Feragen, Kristin Billaud; Rumsey, Nichola; Heliövaara, Arja; Boysen, Betty Marie; Johannessen, Emma Christine; Havstam, Christina; Marcusson, Agneta; Nyberg, Jill; Pedersen, Nina-Helen; Bogh-Nielsen, Joan; Eyres, Philip; Bradbury, Eileen; Semb, Gunvor

    2017-02-01

    Parents of children with a cleft lip and palate may be emotionally affected by the child's diagnosis. Their experiences and perceptions are important when evaluating the complexity of satisfactory treatment outcomes. The objective was to examine parents' social and emotional experiences related to their child's cleft diagnosis, and their perceptions of the child's adjustment to living with a visible difference. International multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. A cohort of 448 children born with a non-syndromic UCLP were included. A total of 356 parents completed the Scandcleft Parent Questionnaire. The majority of parents experienced practical and emotional support from family, friends, and health professionals. Nevertheless, parents had to cope with other people's reactions to the cleft, experiences that were described as ranging from hurtful to neutral and/or positive. According to parents, 39% of the children had experienced cleft-related comments and/or teasing. More than half of the parents reported specific worries related to their child's future. While the majority of the parents experienced positive support and coped well with the child's diagnosis, some parents were at risk for psychological and emotional challenges that should be identified by the cleft team. To optimise outcomes and the child's adjustment, these parents should be offered psychological support when necessary. ISRCTN29932826.

  14. Un Futuro Prometedor para su Nino con Labio Hendido y Paladar Hendido. Edicion Refundida (Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition).

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

    The booklet, written in Spanish, is intended to help parents of babies with cleft lip and/or cleft palate. Topics covered include the sequence of prenatal development and the effects of birth defects, common misconceptions about what causes the conditions, possible hereditary and environmental causes, and what it means to have a cleft palate or a…

  15. Un Futuro Prometedor para su Nino con Labio Hendido y Paladar Hendido. Edicion Refundida (Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition).

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

    The booklet, written in Spanish, is intended to help parents of babies with cleft lip and/or cleft palate. Topics covered include the sequence of prenatal development and the effects of birth defects, common misconceptions about what causes the conditions, possible hereditary and environmental causes, and what it means to have a cleft palate or a…

  16. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

    PubMed Central

    Ludwig, Kerstin U; Mangold, Elisabeth; Herms, Stefan; Nowak, Stefanie; Reutter, Heiko; Paul, Anna; Becker, Jessica; Herberz, Ruth; AlChawa, Taofik; Nasser, Entessar; Böhmer, Anne C; Mattheisen, Manuel; Alblas, Margrieta A; Barth, Sandra; Kluck, Nadine; Lauster, Carola; Braumann, Bert; Reich, Rudolf H; Hemprich, Alexander; Pötzsch, Simone; Blaumeiser, Bettina; Daratsianos, Nikolaos; Kreusch, Thomas; Murray, Jeffrey C; Marazita, Mary L; Ruczinski, Ingo; Scott, Alan F; Beaty, Terri H; Kramer, Franz-Josef; Wienker, Thomas F; Steegers-Theunissen, Regine P; Rubini, Michele; Mossey, Peter A; Hoffmann, Per; Lange, Christoph; Cichon, Sven; Propping, Peter; Knapp, Michael; Nöthen, Markus M

    2013-01-01

    We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; PNSCLP = 6.51 × 10−11; homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84–3.16). PMID:22863734

  17. Treatment for Adults (with Cleft Lip and Palate)

    MedlinePlus

    ... throat, hearing, dentistry, speech, oral surgery, nursing, and psychology among others. You can obtain the names of ... of the cleft team, particularly the psychologist and social worker. Interaction with other adults with clefts, through ...

  18. Treatment for Adults (with Cleft Lip and Palate)

    MedlinePlus

    ... throat, hearing, dentistry, speech, oral surgery, nursing, and psychology among others. You can obtain the names of ... of the cleft team, particularly the psychologist and social worker. Interaction with other adults with clefts, through ...

  19. The impact of cleft lip and palate repair on maxillofacial growth.

    PubMed

    Shi, Bing; Losee, Joseph E

    2015-03-23

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not.

  20. The impact of cleft lip and palate repair on maxillofacial growth

    PubMed Central

    Shi, Bing; Losee, Joseph E

    2015-01-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

  1. Cleft lip and Palate: A 30-year Epidemiologic Study in North-East of Iran

    PubMed Central

    Kianifar, Hamidreza; Hasanzadeh, Nadia; Jahanbin, Arezoo; Ezzati, Atefeh; Kianifar, Homa

    2015-01-01

    Introduction: Cleft lip and palate are among the most common congenital anomalies worldwide. This study was conducted in order to explore the incidence and related factors of cleft lip and/or palate (CL/P) among live births in Mashhad, North-Eastern Iran. Materials and Methods: In this cross-sectional study, records of 28,519 infants born between March 1982 and March 2011 at three major hospitals in Mashhad were screened for oral clefts. Clinical and demographic factors relating to diagnosed cases, including birth date, gender, birth weight, maternal age, number of pregnancies, type and side of cleft and presence of other congenital anomalies were recorded for analysis. Results: The overall incidence of CL/P was 1.9 per 1,000 live births. Cleft lip associated with cleft palate (CLP) was the most prevalent type of cleft (50%), followed by isolated cleft lip (35.2%) and isolated cleft palate (14.8%). A total of 92.6% of oral clefts were bilateral and 5.5% were located on the right side. In addition, clefts were found to be more common in male than female births (male/female ratio=2.3). The rate of associated congenital anomalies in CL/P newborns was 37%. No significant differences were observed in the incidence of oral clefts across three decades of study; except for CLP which was significantly more prevalent between 2002–2011 (P=0.027). There were no significant differences with regard to season of birth, associated anomalies or maternal age of affected newborns in the three time periods of the study. Furthermore, maternal age and number of pregnancies were not significantly different among the three types of cleft (P=0.43 and P=0.91, respectively). Although the mean birth weight of patients affected with isolated cleft palate was considerably lower than that of the other two types of cleft, the difference was not statistically significant (P=0.05). Conclusion: This study indicates a frequency of CL/P close to the findings in East Asian countries and higher than

  2. Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly.

    PubMed

    Akamatsu, Tadashi; Hanai, Ushio; Nakajima, Serina; Kobayashi, Megumi; Miyasaka, Muneo; Matsuda, Shinichi; Ikegami, Mariko

    2015-06-20

    We report a case of lip repair surgery performed for bilateral cleft lip and palate in a patient diagnosed with trisomy 13 and holoprosencephaly. At the age of 2 years and 7 months, the surgery was performed using a modified De Hann design under general anesthesia. The operation was completed in 1 h and 21 min without large fluctuations in the child's general condition. The precise measurement of the intraoperative design was omitted, and the operation was completed using minimal skin sutures. It is possible to perform less-invasive and short surgical procedures after careful consideration during the preoperative planning. Considering the recent improvements in the life expectancy of patients with trisomy 13, we conclude that surgical treatments for non-life threatening malformations such as cleft lip and palate should be performed for such patients.

  3. Esthetic, Functional, and Everyday Life Assessment of Individuals with Cleft Lip and/or Palate

    PubMed Central

    Papamanou, Despina A.; Karamolegkou, Marina; Dorotheou, Domna

    2015-01-01

    Objectives. To evaluate the level of satisfaction of individuals with cleft lip and/or palate (CLP) and their parents concerning the esthetic and functional treatment outcomes, the impact of the cleft on everyday life, and potential associations with treatment outcome satisfaction. Subjects and Methods. The sample consisted of 33 patients (7 CP, 20 unilateral CLP, and 6 bilateral CLP; median age: 17.1, range: 9.0–33.1 years) and 30 parents, who responded to a questionnaire in an interview-guided session. All participants received their orthodontic treatment at the Department of Orthodontics in the University of Athens. Results. Patients and their parents were quite satisfied with esthetics and function. Patients with UCLP primarily were concerned about nose esthetics (BCLP about lip esthetics and CP about speech). Increased satisfaction was associated with decreased influence of the cleft in everyday life (0.35 < rho < 0.64, P < 0.05). Parents reported significant influence of the cleft on family life, while patients did not. Conclusions. Despite the limited sample size of subgroups, the main concerns of patients with different cleft types and the importance of satisfying lip, nose, and speech outcomes for an undisturbed everyday life were quite evident. Thus, the need for targeted treatment strategies is highlighted for individuals with cleft lip and/or palate. PMID:26064918

  4. 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

    2017-06-09

    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.

  5. 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.

  6. Cleft lip and palate treatment of 530 children over a decade in a single centre.

    PubMed

    Vlastos, I M; Koudoumnakis, E; Houlakis, M; Nasika, M; Griva, M; Stylogianni, E

    2009-07-01

    We sought to evaluate the process of care and the outcomes of cleft lip and palate operations carried by a multidisciplinary team at a centre of craniofacial anomalies with a high patients' volume. A retrospective review of all cleft lips and/or palates cases treated in the centre from 1995 to 2007 was performed. Direct and long term complication rates, clinical, audiologic, speech intelligibility and dental arch assessments were analyzed. A total of 530 children have been operated this period in the centre (64 isolated cleft lip closures). A detailed presentation of the outcomes is performed in relation to the various types of cleft lip and palates. The majority of parents (70%) reported very good or excellent results 2-5 years after the lip closure with the Millard technique, although those with bilateral clefts were significantly less satisfied (P<0.002). Forty-two percent of children with cleft palate and otitis media with effusion were self-improved 2-8 months after palate reconstruction and 83.3% of children treated with the two flaps palatoplasty technique had a rather high or very high intelligibility score. Muscles' retropositioning had a significant effect on intelligibility (P=0.04). Children with cleft lips and palates have a variety of conditions and functional limitations even after the surgical correction of their problem that need to be evaluated and treated by several specialists. The treatment protocol utilized by the multidisciplinary team of our centre is efficient with a relative low percentage of complications and unfavorable results.

  7. A comprehensive review of the genetic basis of cleft lip and palate

    PubMed Central

    Kohli, Sarvraj Singh; Kohli, Virinder Singh

    2012-01-01

    Cleft lip and palate (CLP) are birth defects that affect the upper lip and the roof of the mouth. CLP has a multifactorial etiology, comprising both genetic and environmental factors. In this review we discuss the recent data on the etiology of cleft lip and palate. We conducted a search of the MEDLINE database (Entrez PubMed) from January 1986 to December 2010 using the key words: ‘cleft lip,’ ‘cleft palate,’ ‘etiology,’ and ‘genetics.’ The etiology of CLP seems complex, with genetics playing a major role. Several genes causing syndromic CLP have been discovered. Three of them—T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)—are responsible for causing X-linked cleft palate, cleft lip/palate–ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. The nature and functions of these genes vary widely, illustrating the high vulnerability within the craniofacial developmental pathways. The etiological complexity of nonsyndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. To conclude, although the etiology of nonsyndromic CLP is still largely unknown, mutations in candidate genes have been identified in a small proportion of cases. Determining the relative risk of CLP on the basis of genetic background and environmental influence (including smoking, alcohol use, and dietary factors) will be useful for genetic counseling and the development of future preventive measures. PMID:22438645

  8. Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.

    PubMed Central

    Crawford, F C; Sofaer, J A

    1987-01-01

    Previous studies have suggested that asymmetry for certain bilaterally represented features may be an indicator of genetic predisposition to cleft lip with or without cleft palate and may therefore be of value in the individual assessment of recurrence risk, particularly for sporadic cases. An asymmetry score has been devised that may be of use in identifying those with a high level of genetic predisposition. Stepwise logistic regression selected nine variables that together correctly classified 85% of familial cleft patients and unrelated non-cleft controls. Applying the same regression equation to sporadic cases, 26% fell into the range occupied by the majority of familial patients, suggesting that these had a high level of genetic predisposition. PMID:3572999

  9. [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.

  10. Nasal asymmetry in unilateral cleft lip and palate.

    PubMed

    Freeman, A K; Mercer, N S G; Roberts, L M

    2013-04-01

    Comparison of nasal asymmetry between unilateral cleft lip and palate (UCLP) patients with and without nasal correction at primary repair. Assessment of the value of Symnose as a routine research tool. 75 ten-year-old UCLP patients who underwent primary lip repair by one of two techniques: classical Millard with primary nasal correction (n = 30) or modified Millard without nasal correction (n = 45). Control group of ten-year-old school children (n = 45). Nasal asymmetry of participants was measured from facial photographs taken in two views: frontal and basal. The Symnose computer program was used to calculate asymmetry for three parameters: front perimeter (FP), base perimeter (BP) and nostrils (N). Total asymmetry was also calculated. Each image was traced on three separate occasions and a mean of the three measurements was calculated. BP, N and total asymmetry were significantly greater in UCLP patients without nasal correction compared to both controls and patients with correction (BP = 12.73% v 4.90% v 6.75%, N = 47.73% v 15.83% v 30.75%, total = 81.87% v 46.43% v 54.68%, p ≤ 0.001). FP asymmetry was significantly greater in controls than all UCLP patients (22.87% v. 18.18% and 15.07%, p = 0.001 and p = 0.008). BP measurements have a higher degree of repeatability than FP and N (Coefficient of repeatability = 5.99, 17.02 and 16.47, respectively). Primary nasal correction produces greater nasal symmetry during childhood from the basal view. Symnose is a simple method of objectively measuring asymmetry in UCLP, however improvements are required before it can be considered a useful research tool. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  11. Esthetic evaluation of the facial profile in rehabilitated adults with complete bilateral cleft lip and palate.

    PubMed

    Ferrari Júnior, Flávio Mauro; Ayub, Priscila Vaz; Capelozza Filho, Leopoldino; Pereira Lauris, José Roberto; Garib, Daniela Gamba

    2015-01-01

    To assess the facial esthetics of patients with complete bilateral cleft lip and palate, and to compare the judgment of raters related and unrelated to cleft care. The sample comprised 23 adult patients (7 women and 16 men) with a mean age of 26.1 years, rehabilitated at a single center. Standardized photographs of the right and left facial profile were taken of each patient and subjectively evaluated by 25 examiners: 5 orthodontists and 5 plastic surgeons with expertise in oral cleft rehabilitation, 5 orthodontists and 5 plastic surgeons without expertise in oral cleft rehabilitation, and 5 laypersons. The facial profiles were classified into 3 categories: esthetically unpleasant, esthetically acceptable, and esthetically pleasant. Intraexaminer and interexaminer agreements were evaluated with the Spearman correlation coefficient and Kendall coefficient of concordance. The differences between rater categories were analyzed using the Student-Newman-Keuls test (with P < .05 indicating a statistically significant difference). Most of the sample was classified as esthetically acceptable. Orthodontists and plastic surgeons related to oral cleft rehabilitation gave the best scores to the facial profiles, followed by layperson examiners and by orthodontists and plastic surgeons unrelated to oral cleft rehabilitation. The middle third of the face, the nose, and the upper lip were frequently pointed out as contributors to the esthetic impairment. The facial profile of rehabilitated adult patients with complete bilateral cleft lip and palate was considered esthetically acceptable because of morphologic limitations in the structures affected by the cleft. Laypersons and professionals unrelated to oral cleft rehabilitation seem to be more critical regarding facial esthetics than professionals involved with cleft rehabilitation. Copyright © 2015. Published by Elsevier Inc.

  12. 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

  13. Orthodontic treatment of a bilateral cleft lip and palate patient with bilateral tooth transpositions and congenitally missing teeth.

    PubMed

    Tai, Kiyoshi; Park, Jae Hyun; Tanino, Masahiro; Sato, Yasumori

    2010-01-01

    Treatment of patients with a cleft lip and palate can be challenging. A boy, 15 years 11 months old, with a bilateral cleft lip and palate and a convex profile, transposed teeth and congenitally missing teeth was treated by orthodontic treatment. 3 year posttreatment records showed excellent results with good occlusion, facial balance and harmony, and long-term stability.

  14. Anesthetic Techniques and Perioperative Complications of Cleft Lip and Cleft Palate Surgery at Srinagarind Hospital.

    PubMed

    Bunsangjaroen, Piyaporn; Thongrong, Cattleya; Pannengpetch, Patt; Somsaad, Supakorn; Rojanapithayakorn, Nonthida; Polsena, Lumpai; Litu, Duangnate; Sriraj, Wimonrat; Kasemsiri, Pornthep

    2015-08-01

    Cleft lip (CL) and cleft palate (CP) are common craniofacial abnormalities with an incidence of around 1:800. Surgical are corrections often performed during the first year of life. These patients have risks for difficult intubation and various perioperative complications due to their young age and craniofacial abnormalities. The purpose of the retrospective descriptive study is to report the data of anesthetic techniques and complications of repairing CLCP in Srinagarind Hospital. These results could improve the caring and services for these groups of patients. Data was retrieved from anesthetic records of patients undergoing correction of CLCP from the period January 2005 to January 2009. Demographic data, clinical diagnosis, type operation, anesthetic technique, total opiod were analyzed using direct laryngoscopic view, grading intubation, method of intubation, and as well perioperative complications were also analyzed. A total of 469 anesthetic records were obtained. The most common type of CLCP was unilateral side (45.48%). The highest incidence of difficult intubation was found in the CP and unilateral CLCP subgroup (4.48% and 4.48%, respectively). All patients were successfully intubated with a stylet except one patient, in whom retrograde intubation was used. Perioperative complications included desaturation, reintubation, postoperative bleeding, and post-operative nausea and vomiting (PONV). And the highest incidence of PONV was found in the CP (8.95%). Correlation between fentanyl using and postoperative desaturation was statistically significant when multivariate analysis was used (OR = 1.2; p = 0.01). Patients with unilateral CLCP or CP had a higher risk for difficult intubation. Fortunately, all of the patients were successfully intubated with advanced anesthetists' skill. Long operative periods and a large dose of opioid could contribute to the postoperative desaturation and PONV.

  15. Transforming growth factor beta-3 and environmental factors and cleft lip with/without cleft palate.

    PubMed

    Guo, Zeqiang; Huang, Chengle; Ding, Kaihong; Lin, Jianyan; Gong, Binzhong

    2010-07-01

    To identify the interactions among two loci (C641A and G15572-) of transforming growth factor beta 3 (TGFbeta3), and exposures in pregnancy with cleft lip with/without cleft palate (CL/P), a hospital-based case-control study was conducted. Associations among offspring polymorphisms of TGFbeta3 C641A and G15572-, paternal smoking, paternal high-risk drinking, maternal passive smoking, and maternal multivitamin supplement with CL/P were analyzed by logistic regression analysis, and the results showed that maternal passive smoking exposures and maternal multivitamin use were associated with the risk of CL/P but offspring polymorphisms of TGFbeta3 C641A and G15572-, paternal smoking, and paternal high-risk drinking were not. Interactions among these variables were analyzed using the multifactor dimensionality reduction method, and the results showed that the two-factor model, including maternal passive smoking and TGFbeta3 C641A, among all models evaluated had the best ability to predict CL/P risk with a maximum cross-validation consistency (9/10) and a maximum average testing accuracy (0.5892; p = 0.0010). These findings suggested that maternal passive smoking exposure is a risk factor for CL/P, whereas maternal multivitamin supplement is a protective factor. The polymorphism of TGFbeta3 C641A participates in interaction effect for CL/P with environmental exposures, although the polymorphism was not associated with CL/P in single-locus analysis, and synergistic effect of TGFbeta3 C641A and maternal passive smoking could provide a new tool for identifying high-risk individuals of CL/P and also an additional evidence that CL/P is determined by both genetic and environmental factors.

  16. Revisiting the Recurrence Risk of Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Klotz, Cherise M.; Wang, Xiaojing; DeSensi, Rebecca S.; Grubs, Robin E.; Costello, Bernard J.; Marazita, Mary L.

    2010-01-01

    Sub-epithelial defects (i.e. discontinuities) of the superior orbicularis oris (OO) muscle appear to be a part of the phenotypic spectrum of cleft lip with or without cleft palate (CL±P). Analysis of the OO phenotype as a clinical tool is hypothesized to improve familial recurrence risk estimates of CL±P. Study subjects (n=3912) were drawn from 835 families. Occurrences of CL±P were compared in families with and without members with an OO defect. Empiric recurrence risks were calculated for CL±P and OO defects among first degree relatives (FDRs). Risks were compared to published data and/or to other outcomes of this study using chi square or Fisher's exact tests. In our cohort, the occurrence of CL±P was significantly increased in families with OO defects versus those without (p < 0.01, OR = 1.74). The total FDR recurrence of isolated OO defects in this cohort is 16.4%; the sibling recurrence is 17.2%. The chance for one or more FDRs of a CL±P proband to have an OO defect is 11.4%; or 14.7% for a sibling. Conversely, the chance for any FDR of an individual with an OO defect to have CL±P is 7.3%; or for a sibling, 3.3%; similar to published recurrence risk estimates of nonsyndromic (NS) CL±P. This study supports sub-epithelial OO muscle defects as being part of the CL±P spectrum and suggests a modification to recurrence risk estimates of CL±P by utilizing OO defect information. PMID:20949506

  17. Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate.

    PubMed

    Klotz, Cherise M; Wang, Xiaojing; Desensi, Rebecca S; Grubs, Robin E; Costello, Bernard J; Marazita, Mary L

    2010-11-01

    Sub-epithelial defects (i.e., discontinuities) of the superior orbicularis oris (OO) muscle appear to be a part of the phenotypic spectrum of cleft lip with or without cleft palate (CL ± P). Analysis of the OO phenotype as a clinical tool is hypothesized to improve familial recurrence risk estimates of CL ± P. Study subjects (n = 3,912) were drawn from 835 families. Occurrences of CL ± P were compared in families with and without members with an OO defect. Empiric recurrence risks were calculated for CL ± P and OO defects among first-degree relatives (FDRs). Risks were compared to published data and/or to other outcomes of this study using chi-square or Fisher's exact tests. In our cohort, the occurrence of CL ± P was significantly increased in families with OO defects versus those without (P < 0.01, OR = 1.74). The total FDR recurrence of isolated OO defects in this cohort is 16.4%; the sibling recurrence is 17.2%. The chance for one or more FDRs of a CL ± P proband to have an OO defect is 11.4%; or 14.7% for a sibling. Conversely, the chance for any FDR of an individual with an OO defect to have CL ± P is 7.3%; or for a sibling, 3.3%; similar to published recurrence risk estimates of nonsyndromic (NS) CL ± P. This study supports sub-epithelial OO muscle defects as being part of the CL ± P spectrum and suggests a modification to recurrence risk estimates of CL ± P by utilizing OO defect information. © 2010 Wiley-Liss, Inc.

  18. Nasopharyngeal Development in Patients with Cleft Lip and Palate: A Retrospective Case-Control Study

    PubMed Central

    Wermker, Kai; Jung, Susanne; Joos, Ulrich; Kleinheinz, Johannes

    2012-01-01

    Introduction. The aim of this paper was to evaluate cephalometrically the nasopharyngeal development of patients with complete unilateral cleft lip and palate. Influencing factors were evaluated and cleft to noncleft subjects were compared to each other. Material and Methods. The lateral cephalograms of 66 patients with complete cleft lip and palate were measured and compared retrospectively to the cephalograms of 123 healthy probands. Measurements were derived from a standardized analysis of 56 landmarks. Results. We observed significant differences between cleft and control group: the cleft patients showed amaxillary retroposition and a reduced maxillary length; the inclination of the maxilla was significantly more posterior and cranial; the anterior nasopharyngeal height was reduced; the nasopharyngeal growth followed a vertical tendency with reduced sagittal dimensions concerning hard and soft tissue. The velum length was reduced. In the cleft group, an accumulation of mandibular retrognathia and an anterior position of the hyoid were observed. Skeletal configuration and type of growth were predominantly vertical. Conclusions. Our data provides a fundamental radiological analysis of the nasopharyngeal development in cleft patients. It confirms the lateral cephalogram as a basic diagnostic device in the analysis of nasopharyngeal and skeletal growth in cleft patients. PMID:22523495

  19. A review of cleft lip and palate management: Experience of a Nigerian Teaching Hospital

    PubMed Central

    Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Amole, Ibiyinka Olushola; Osunde, Otasowie Daniel; Akpasa, Izegboya Olohitae

    2015-01-01

    Background: Cleft lip (CL) and palate (CLP) management is multidisciplinary. A cleft team was formed in a Nigerian Tertiary Hospital to address the health needs of cleft patients in the centre. Aim: This paper aims at documenting the Aminu Kano Teaching Hospital (AKTH) management protocol for orofacial clefts and also to review our experience with CLP surgeries performed at AKTH since our partnering with Smile Train. Materials and Methods: A retrospective review of all the cleft patients surgically treated from January 2006 to December 2014 under Smile Train sponsorship was undertaken. A descriptive narrative of the cleft team protocol was also given. Results: One hundred and fifty-five patients (80 males, 75 females) had surgical repairs of either the lip or palate. CL patients were 83 (53.55%), while CLP patients were 45 (29.03%) and isolated cleft palate patients were 27 (17.42%). Conclusion: The inclusion of various specialities in the cleft team is highly desirable. Poverty level amongst our patients frequently limits our management to surgical treatment sponsored by the Smile Train, despite the presence of other residual problems. PMID:26712291

  20. A review of cleft lip and palate management: Experience of a Nigerian Teaching Hospital.

    PubMed

    Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Amole, Ibiyinka Olushola; Osunde, Otasowie Daniel; Akpasa, Izegboya Olohitae

    2015-01-01

    Cleft lip (CL) and palate (CLP) management is multidisciplinary. A cleft team was formed in a Nigerian Tertiary Hospital to address the health needs of cleft patients in the centre. This paper aims at documenting the Aminu Kano Teaching Hospital (AKTH) management protocol for orofacial clefts and also to review our experience with CLP surgeries performed at AKTH since our partnering with Smile Train. A retrospective review of all the cleft patients surgically treated from January 2006 to December 2014 under Smile Train sponsorship was undertaken. A descriptive narrative of the cleft team protocol was also given. One hundred and fifty-five patients (80 males, 75 females) had surgical repairs of either the lip or palate. CL patients were 83 (53.55%), while CLP patients were 45 (29.03%) and isolated cleft palate patients were 27 (17.42%). The inclusion of various specialities in the cleft team is highly desirable. Poverty level amongst our patients frequently limits our management to surgical treatment sponsored by the Smile Train, despite the presence of other residual problems.

  1. Domino Flaps for Repairing of Secondary Bilateral Cleft Lip With Severe Columella Deformity.

    PubMed

    Wei, Jiao; Chiang, Cheng-An; Zhou, Da; Li, Qingfeng; Liu, Kai

    2017-01-01

    The patients with secondary bilateral cleft lip and nasal deformity always suffer from a serious part of the horizontal and vertical soft tissue deficiencies in the upper lip and nose, especially the columella. Normally, the Abbe flap is used to increase the soft tissue volume of upper lip. However, how to reconstruct the sever columella deficient, how to make full use of the Abbe flap and the remaining soft tissue of the upper lip, are always the problems that need to be solved by plastic surgeons. Twenty-nine patients with secondary bilateral cleft lip and severe columella deficiency were simultaneously reconstructed with several local flaps like dominos that was called "Domino sliding flaps." Six of the patients had their nasal tip and dorsum or collumella augmented and modified with autologous costal cartilage at the same time. The other 23 patients underwent the autologous auricular cartilage augmentation. The patients were followed from 15 months to 50 months. No secondary deformation occurred in any of the patients. 93.1% patients were satisfied with the aesthetics postoperatively, 89.7% patients were satisfied with the incision and donor site scar. Among them, 3 of the patients got hypertrophic scar on the upper lip and were modified 1 year after their first operations. The operational technique of the domino sliding flaps could better play the role of the Abbe flap. It also gave plastic surgeons an effective method to modify the severe deformities of bilateral cleft lip in 1 stage.

  2. Contributions within dental science to cleft lip/palate management: a literature review.

    PubMed

    Hudson, J W; Russell, R

    1994-01-01

    Dentistry has consistently provided cleft lip/palate care with new advancements in management and technology. However, there is a significant disparity in the general knowledge base of the general dental and medical practitioner regarding this relatively common orofacial deformity. Fortunately, contributions from the dental arts continue to provide momentum and major influence in the cleft-care arena. Modifications in pharyngeal flap procedures for management of velopharyngeal incompetence have been advanced by oral and maxillofacial surgery. Application of contemporary integrated prosthesis technologies to cleft dental habilitation are now being used. Recently, significant contributions to cleft lip/palate science from the realm of fetal surgery and fetal wound healing may eventually have broader applications and benefit all facets of health care.

  3. [Management of cleft lip and palate in university hospital of Rouen].

    PubMed

    Bachy, B; Peron, J M; Delcampe, P; Duret, A; Kerbrat, J B; Andrieu, J; Dehesdin, D; Amstutz-Montadert, I; Betahar, S; Brière, A; Ternon-Bocquet, I

    2002-04-01

    Cleft lips and cleft palates are managed in the department of Pediatric surgery in Rouen for the last 30 years. From the antenatal diagnosis, the parents got in touch with the surgeon who will coordinate this management. Around thirty new patients are treated every year. The chronology of the treatment is of "classic" manner. The cleft lip is repaired at about 3 weeks of age and the palatoplasty is performed after the age of 1 year. In view to maintain the intimacy of the consultation we did not institute multidisciplinary consultations. The other members of the interdisciplinary team will intervene during the follow up depending on the form of the cleft and the encountered problems. The information and the files circulate freely and are discussed together.

  4. The Cleft Aesthetic Rating Scale for 18-Year-Old Unilateral Cleft Lip and Palate Patients: A Tool for Nasolabial Aesthetics Assessment.

    PubMed

    Mulder, F J; Mosmuller, D G M; de Vet, H C W; Mouës, C M; Breugem, C C; van der Molen, A B Mink; Griot, J P W Don

    2016-12-20

      To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP).   Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs.   Medical Center X.   Inclusion criteria: 18-year-old patients, unilateral cleft lip and palate, available photograph of the frontal view. history of facial trauma, congenital syndromes affecting facial appearance. Eighty photographs were available for scoring.   The interobserver and intraobserver reliability of the CARS for 18-year-old patients when used by cleft surgeons and medical students.   The interobserver reliability for the nose and lip together was 0.64 for the cleft surgeons and 0.61 for the medical students. There was an intraobserver reliability of 0.75 and 0.78 from the surgeons and students, respectively, on the nose and lip together. No significant difference was found between the cleft surgeons and medical students in the way they scored the nose (P = 0.22) and lip (P = 0.72).   The Cleft Aesthetic Rating Scale for 18-year-old patients has a substantial overall estimated reliability when the average score is taken from three or more cleft surgeons or medical students assessing the nasolabial aesthetics of CLP patients.

  5. Assessing the Cost of Prophylactic Antibiotic Use After Cleft Lip and Lip Adhesion Procedures.

    PubMed

    Daniels, Kimberly M; Lappi, Michael D; Sporn, Susan Flath; Caillouette, Catherine Noonan; Heald, Ronald; Meara, John G

    The purpose of this study was to understand the true cost of administering prophylactic antibiotics postoperatively to patients undergoing cleft lip and lip adhesion procedures for which the rate of infection is historically low. Using time-driven activity-based costing (TDABC) methodologies, the plastic surgery department of one hospital created a process map with related time intervals and personnel cost rates for administering the antibiotic. The cost for each provider, based on standard salary information, was multiplied by the time required to complete his or her stage of the process, and this outcome was added to the supply costs. Overall cost was determined by summing the cost of all the steps. The cost of administering four doses of ampicillin/sulbactam to a patient during an inpatient stay ranged from $61.91 to $81.83. The total cost included all steps, from the initial antibiotic prescription through the final administration by a nurse. We attributed variations in cost to the staff member's level of familiarity with the antibiotic and dosing protocols for that patient. Over the course of a year, the cost of administering prophylactic antibiotics for this patient population was between $3,281.23 and $4,336.99. The results of this study effectively demonstrate the use of TDABC to determine the cost of administering prophylactic postoperative antibiotics. If we assume that antibiotics are of limited value for all clean-contaminated plastic surgery procedures, the plastic surgery department can expect to save $18,000 to $22,000 each year by forgoing their use. Furthermore, when clinically supported, reducing the use of prophylactic antibiotics not only diminishes the cost of care but also reduces the complexity of postoperative care.

  6. Nostril Morphometry Evaluation before and after Cleft Lip Surgical Correction: Clinical Evidence

    PubMed Central

    Feijo, Mario Jorge Frassy; Brandão, Stella Ramos; Pereira, Rui Manoel Rodrigues; Santos, Mariana Batista de Souza; Justino da Silva, Hilton

    2014-01-01

    Introduction The purpose to this work is to review systematically the morphological changes of the nostrils of patients undergoing surgery for correction of cleft lip and identify in the literature the issues involved in the evaluation of surgical results in this population. Review of Literature A review was conducted, searching for clinical evidence from MEDLINE. The search occurred in January 2012. Selection criteria included original articles and research articles on individual subjects with cleft lip or cleft palate with unilateral nostril anthropometric measurements before and after surgical correction of cleft lip and measurements of soft tissues. There were 1,343 articles from the search descriptors and free terms. Of these, five articles were selected. Discussion Most studies in this review evaluated children in Eastern countries, using different measurement techniques but with the aid of computers, and showed improved nostril asymmetry postoperatively compared with preoperatively. Conclusion There is a reduction of the total nasal width postoperatively compared with preoperative measurements in patients with cleft lip. PMID:25992089

  7. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    PubMed

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases. Copyright © 2016. Published by Elsevier Ltd.

  8. Airway management: A comparative study in cleft lip and palate repair surgery in children.

    PubMed

    Sen, Jayashree; Sen, Bitan

    2014-01-01

    Cleft lip with or without palate is one of the common congenital malformations. To evaluate the per-operative complications of anesthesia, a comparative study was conducted in children using the endotracheal tubes available in the Institute so that the complications can be averted in future procedures. The rural population of Tripura, India. Awareness was generated and the incidence of repair surgeries of cleft lip and palate was thus increased considerably in Dr. B. R. Ambedkar Memorial Teaching Hospital, Agartala, Tripura. The RAE tube has been found to be the choicest one and at a minimal risk for maintaining patients' patent airway and other related complications.

  9. Modified Intraoral Repositioning Appliance in Complete Bilateral Cleft Lip and Palate

    PubMed Central

    Ahuja, NK; Gahlawat, Subhash

    2011-01-01

    Objective The purpose of the modified repositioning appliance was to overcome the shortcoming of existing design for repositioning protruded premaxilla in a child with bilateral cleft lip and palate. Methods The basic principles of design were similar to Latham’s appliance but the surgical pinning of premaxillary segment was avoided and instead acrylic splint was prepared. Conclusions This technique avoids any invasive procedure, is useful to reposition protruded premaxillary segment in bilateral cleft lip and palate cases specifically in child who reports late with deciduous dentition. PMID:27672252

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

    SciTech Connect

    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, found 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.

  11. Lessons learned from two consecutive cleft lip and palate missions and the impact of patient education.

    PubMed

    Schönmeyr, Björn; Restrepo, Carolina; Wendby, Lisa; Gillenwater, Justin; Campbell, Alex

    2014-09-01

    Two consecutive cleft missions were conducted in Guwahati, northeastern India in December 2010 and January 2011. In the later mission, a standardized patient education program for postoperative care was introduced. The objective of this study was to retrospectively evaluate the impact of the patient education program on cleft lip complications in terms of wound infection and dehiscence. Two hundred ninety-eight cleft lip repairs were performed in the first mission and 220 (74%) returned for early follow-up. In the second mission, 356 patients were operated on and 252 (71%) returned for follow-up. From the first mission, 8 patients (3.7%) were diagnosed with lip wound infection and 21 patients (9.6%) with lip dehiscence. After the second mission, only 1 patient (0.4%) returned with a wound infection and 16 (6.4%) were diagnosed with dehiscence.Using binary logistic regression including age, cleft type, postoperative antibiotics, surgeon, and patient education program as covariates, the patient education program stood out as the only variable with a statistically significant impact on the incidence of postoperative wound infections. Even though the incidence of lip dehiscence was reduced by one third when the patient education program was utilized, our regression model singled out the surgeons as the only factor significantly related to this type of complication. Moreover, no benefits of postoperative antibiotic prophylaxis were found. Further analysis of the data also implied that the use of tissue adhesive as a compliment to sutures does not reduce the risk of dehiscence.

  12. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.

    PubMed

    Vieira, Alexandre R; McHenry, Toby G; Daack-Hirsch, Sandra; Murray, Jeffrey C; Marazita, Mary L

    2008-09-01

    We revisited 42 families with two or more cleft-affected siblings who participated in previous studies. Complete dental information was collected to test the hypothesis that dental anomalies are part of the cleft phenotype spectrum, and can provide new opportunities for identification of cleft susceptibility genes. Genotypes from 1489 single nucleotide polymorphism 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 single nucleotide polymorphism in ankyrin repeat and sterile alpha motif domain containing 6 (rs4742741, 9q22.33; P = 0.0004) when a dental anomaly phenotype was included in the analysis. Significant over-transmission was also seen for a single nucleotide polymorphism 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 interferon regulatory factor 6 and 6q21-q23 loci. In contrast to the above results, suggestive over-transmission of markers in GART, DPF3, and neurexin 3 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.

  13. Nasolabial symmetry and esthetics in cleft lip and palate: analysis of 3D facial images.

    PubMed

    Desmedt, Dries J; Maal, Thomas J; Kuijpers, Mette A; Bronkhorst, Ewald M; Kuijpers-Jagtman, Anne Marie; Fudalej, Piotr S

    2015-11-01

    To determine the relationship between nasolabial symmetry and esthetics in subjects with orofacial clefts. Eighty-four subjects (mean age 10 years, standard deviation 1.5) with various types of nonsyndromic clefts were included: 11 had unilateral cleft lip (UCL); 30 had unilateral cleft lip and alveolus (UCLA); and 43 had unilateral cleft lip, alveolus, and palate (UCLAP). A 3D stereophotogrammetric image of the face was taken for each subject. Symmetry and esthetics were evaluated on cropped 3D facial images. The degree of asymmetry of the nasolabial area was calculated based on all 3D data points using a surface registration algorithm. Esthetic ratings of various elements of nasal morphology were performed by eight lay raters on a 100 mm visual analog scale. Statistical analysis included ANOVA tests and regression models. Nasolabial asymmetry increased with growing severity of the cleft (p = 0.029). Overall, nasolabial appearance was affected by nasolabial asymmetry; subjects with more nasolabial asymmetry were judged as having a less esthetically pleasing nasolabial area (p < 0.001). However, the relationship between nasolabial symmetry and esthetics was relatively weak in subjects with UCLAP, in whom only vermilion border esthetics was associated with asymmetry. Nasolabial symmetry assessed with 3D facial imaging can be used as an objective measure of treatment outcome in subjects with less severe cleft deformity. In subjects with more severe cleft types, other factors may play a decisive role. Assessment of nasolabial symmetry is a useful measure of treatment success in less severe cleft types.

  14. [The treatment of cleft lip, cleft palate and other dysmorphisms: the ideal technic and therapeutic reality].

    PubMed

    Chancholle, A R; Saboye, J

    2004-12-01

    Good results in any surgical or orthodontic procedure require expert technique, well adapted to the problem and scrupulously executed. A technique that would achieve the best results can be described as "ideal" and can serve as a theoretical model for all similar cases. But, in dealing with apparently similar problems: cleft lips and palates, Class II or Class III cases... in reality, we are treating individual patients, none quite the same as any other. These differences derive from the varying characteristics of individual patients and from the varying and unpredictable responses of their tissues, and from their varying capacities to accommodate to and withstand insults, suffering, and the sensory-motor effects of their deformities and of the treatment they undergo, and, finally, from their variable readiness to submit to and to pay for treatment with their time and with their money. Any therapeutic technique must take into account these realities which sometimes oblige us to modify an ideal technique so that it will fit the specialized needs of a patient, an accommodation that can be defined as "therapeutic realism". When we ignore this reality, we risk the paradox of providing patients with technically ideal results that they find unsatisfactory or discover that what we thought was a technically mediocre outcome has delighted our patient: ultimately, it is the patient's judgment that determines the "therapeutic result" and is, in effect, the Final Evaluation of the technical result.

  15. A study model based photographic method for assessment of surgical treatment outcome in unilateral cleft lip and palate patients.

    PubMed

    Ali, Shaymaa Abdulreda; Mossey, Peter; Gillgrass, Toby

    2006-08-01

    The aim of this study was to test the reliability of using digital photographs of study models as an alternative to the use of plaster study models in the assessment of surgical treatment outcome in 5-year-old children with unilateral cleft lip and palate (UCLP). Fifty-six dental study models available from the Managed Clinical Network for Cleft Services in Scotland (CLEFTSiS) database of patients aged 5-years with non-syndromic UCLP were employed. An experienced examiner scored the plaster study models using the modified Huddart/Bodenham system. A set of digital photographs stored in the CLEFTSiS electronic patient record database of five different views of the same study models were scored by three examiners to allow calculation of interexaminer reliability. The same examiners repeated the scoring 1 month later under similar conditions to determine intraexaminer reliability and minimize the influence of memory bias on the results. The mean kappa value for the application of the modified Huddart/Bodenham system on photographs of 5-year-old UCLP study models was 0.65 +/- 0.05. The mean kappa value for the measurement of overjet on the digital photographs was 0.68 +/- 0.07. Using the interpretation suggested by Altman, good agreement for both scoring systems was found. Therefore, digital photographs of study models are a reliable alternative to measuring treatment outcome using study models of 5-year-old children with UCLP.

  16. Cephalometric comparison of early and late secondary bone grafting in the treatment of patients suffering from unilateral cleft lip and palate.

    PubMed

    Brudnicki, Andrzej; Sawicka, Ewa; Brudnicka, Renata; Fudalej, Piotr Stanisław

    2017-04-01

    The study was based on a retrospective cephalometric assessment of 10-year-olds in order to evaluate the influence of early secondary bone grafting on craniofacial development in patients suffering from non-syndromic complete unilateral cleft lip and palate. The study consisted of 79 patients in the early and 67 patients in the late secondary bone grafting group. The mean age at alveolar bone grafting was 2.5 years (SD 0.03) in the first group and 9.8 years (SD 2.3) in the second group. The primary cleft repair of these 146 patients was always performed in accordance with the one-stage method. Additionally, the non-cleft Control group was comprised of 56 children of the same ethnicity and age. The cephalometric analysis performed at age 10 revealed similar overall characteristics of observed growth disturbances in both cleft groups in comparison to the Control group, such as: inhibition of vertical and anterior maxillary development, the tendency of the mandible to rotate clockwise, and a prevalence of vertical over horizontal facial growth. The comparison between the cleft groups revealed a lack of growth differences in the vertical dimension and more pronounced anterior maxillary development inhibition in the early bone grafting group. This study will be followed by a similar evaluation after craniofacial development is complete by a significant number of these patients in order to ascertain our conclusions.

  17. Anatomy research of nasolabial muscle structure in fetus with cleft lip: an iodine staining technique based on microcomputed tomography.

    PubMed

    Wu, Jiajun; Yin, Ningbei

    2014-05-01

    A thorough knowledge of the anatomic structure of the orbicularis oris of the upper lip and the nasalis in fetus with cleft lip is the key for the success of cleft lip repair. To understand the anatomic structure of the muscles of nasolabial region in fetus with cleft lip, the nasolabial tissues in 4 aborted fetuses with cleft lip were soaked for 7 days with iodine solution (Lugol solution of 3.75%) and were given micro-computed tomography. After the iodine solution permeated into the soft tissues, a good contrast was showed between muscle fibers and other fibrillar connective tissues. Through the observation of the obtained images, we found that most orbicularis oris fibers gathered into bundles with clear outline and only had slight deformation and displacement on the health side of the cleft of the unilateral incomplete cleft lip; however, in the lateral cleft, the muscle fibers not only had deformation and displacement but also were immature, disorganized, and not gathered into bundles. After being restored in Digital Imaging and Communications in Medicine format, the obtained images were then transferred into Materialise's interactive medical image control system, edited, and reconstructed into three-dimensional models. The models clearly showed the spatial relationship between the muscular tissues of the nasolabial region and the nasolabial outline in fetus with cleft lip.

  18. Assessing an avoidable and dispensable reoperative entity: Self-referred flawed cleft lip and palate repair.

    PubMed

    Foroglou, Pericles; Tsimponis, Antonis; Goula, Olga-Christina; Demiri, Efterpi

    2015-01-01

    Cleft lip and palate (CLP) is comprised within the wide range of congenital deformities of the maxillofacial region with an overall incidence on the increase from 1:1000 to 1:700 live births thus being the most common congenital birth error. Failure of the lateral and medial nasal processes to fuse with the anterior extension of maxillary processes and of the palatal shelves between the 4th and 8th gestational week results in cleft lip and palate. Clefts include different types with variable severity, confirming the complexity and unpredictable expression of cleft modality and have a multifactorial aetiology. Functional impairment, aesthetic disturbances and psychosocial effects are common sequalae in patients with cleft lip and palate. The main long-term morbidity of this condition may include dysfunctional speech, impaired hearing and communication, as well as dental problems. These complications are followed by unfavourable surgical outcome and aesthetic appearance, which all seem to affect this group of patients significantly and have an impact significantly both quality of life and healthcare. Treatment requirements of cleft patients are multifactorial and a multi-disciplinary approach and intervention at multiple levels is necessary. Yet, in this country, resources available to parents and consistent publicity given to this issue and its treatment are still inadequate in spite of the introduction of "Centres of Excellence" and Unified Hospitalization Coding or DRG equivalents to optimize health management. The multi-disciplinary approach to cleft management has been a reality for over a century while cleft treatment protocols are still being evaluated in order to optimise standards of cleft care. According to relevant guidelines primary surgical management of lip and palate defects is performed during the first 3 to 9 months of life. Secondary operations in the form of revisional lip and nose procedures are performed at later stages aiming with an

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

    SciTech Connect

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. ); Blanton, S.H. Univ. of Virginia, Charlottesville )

    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 for 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.

  20. Nasoalveolar molding for infants born with clefts of the lip, alveolus, and palate.

    PubMed

    Grayson, Barry H; Maull, Deirdre

    2004-04-01

    The principle objective of presurgical nasoalveolar molding (NAM) is to reduce the severity of the initial cleft deformity. This enables the surgeon and the patient to enjoy the benefits associated with a repair of a cleft deformity that is of minimal severity. Retraction of the premaxilla, presurgical elongation of the columella, correction of the nasal cartilage deformity, alignment of the cleft alveolar segments, increase in the surface area of the nasal mucosal lining, up-righting of the columella, and achieving close approximation of the cleft lip segments at rest result from gentle application of forces through the NAM appliance. Preservation of these presurgical changes is achieved through the coordinated and modified surgical technique of the primary cleft repair.

  1. Prevalence of Oral Habits in Children with Cleft Lip and Palate

    PubMed Central

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P < 0.05). There was no significant association between oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae. PMID:23533744

  2. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    PubMed Central

    Garib, Daniela Gamba; Rosar, Julia Petruccelli; Sathler, Renata; Ozawa, Terumi Okada

    2015-01-01

    Introduction: Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations. Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft. Conclusion: Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis. PMID:26560830

  3. 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.

  4. Contributions of PTCH Gene Variants to Isolated Cleft Lip and Palate

    PubMed Central

    Mansilla, M.A.; Cooper, M.E.; Goldstein, T.; Castilla, E.E.; Camelo, J.S. Lopez; Marazita, M.L.; Murray, J.C.

    2007-01-01

    Objective Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome. Results Seven new normal variants spread along the entire gene and three missense mutations were found among cases with cleft lip and/or palate. One of these variants (P295S) was not found in any of 1188 control samples. A second variant was found in a case and also in 1 of 1119 controls. The third missense (S827G) was found in 5 of 1369 cases and in 5 of 1104 controls and is likely a rare normal variant. Linkage and linkage desequilibrium also was assessed using normal variants in and adjacent to the PTCH gene in 220 families (1776 individuals), each with two or more individuals with isolated clefting. Although no statistically significant evidence of linkage (multipoint HLOD peak = 2.36) was uncovered, there was borderline evidence of significant transmission distortion for one haplotype of two single nucleotide polymorphisms located within the PTCH gene (p = .08). Conclusion Missense mutations in PTCH may be rare causes of isolated cleft lip and/or palate. An as yet unidentified variant near PTCH may act as a modifier of cleft lip and/or palate. PMID:16405370

  5. Maxillary distraction osteogenesis versus orthognathic surgery for cleft lip and palate patients.

    PubMed

    Kloukos, Dimitrios; Fudalej, Piotr; Sequeira-Byron, Patrick; Katsaros, Christos

    2016-09-30

    Cleft lip and palate is one of the most common birth defects and can cause difficulties with feeding, speech and hearing, as well as psychosocial problems. Treatment of orofacial clefts is prolonged; it typically commences after birth and lasts until the child reaches adulthood or even into adulthood. Residual deformities, functional disturbances, or both, are frequently seen in adults with a repaired cleft. Conventional orthognathic surgery, such as Le Fort I osteotomy, is often performed for the correction of maxillary hypoplasia. An alternative intervention is distraction osteogenesis, which achieves bone lengthening by gradual mechanical distraction. To provide evidence regarding the effects and long-term results of maxillary distraction osteogenesis compared to orthognathic surgery for the treatment of hypoplastic maxilla in people with cleft lip and palate. We searched the following electronic databases: Cochrane Oral Health's Trials Register (to 16 February 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) (the Cochrane Library, 2016, Issue 1), MEDLINE Ovid (1946 to 16 February 2016), Embase Ovid (1980 to 16 February 2016), LILACS BIREME (1982 to 16 February 2016), the US National Institutes of Health Ongoing Trials Register (ClinicalTrials.gov) (to 16 February 2016), and the World Health Organization (WHO) International Clinical Trials Registry Platform (to 16 February 2016). There were no restrictions regarding language or date of publication in the electronic searches. We performed handsearching of six speciality journals and we checked the reference lists of all trials identified for further studies. We included randomised controlled trials (RCTs) comparing maxillary distraction osteogenesis to conventional Le Fort I osteotomy for the correction of cleft lip and palate maxillary hypoplasia in non-syndromic cleft patients aged 15 years or older. Two review authors assessed studies for eligibility. Two review authors independently

  6. 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.

  7. 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.

  8. Simplifying cleft surgery by presurgical nasoalveolar molding (PNAM) for infant born with unilateral cleft lip, alveolus, and palate: a clinical report.

    PubMed

    Kamble, Vaibhav D; Parkhedkar, Rambhau D; Sarin, Soumil P; Patil, Pravinkumar G; Kothari, Bhavesh

    2013-07-01

    A 2-day-old female infant with complete unilateral cleft lip, alveolus, and palate (left side) was presented to the Department of Prosthodontics, Government Dental College and Hospital, Nagpur for evaluation and treatment with presurgical nasoalveolar molding (PNAM) prior to surgical intervention. The alignment of the alveolar segments creates the foundation upon which excellent results of primary lip and nasal surgery are dependent in the repair of the cleft lip, alveolus, and palate patient. Presurgical infant orthopedics has been employed since the 1950s as an adjunctive neonatal therapy for the correction of cleft lip and palate. One of the problems that the traditional approach failed to address was the deformity of the nasal cartilages and the deficiency of columella tissue in infants with unilateral and bilateral cleft lip and palate. The purpose of this article is to illustrate the step-by-step fabrication process of the PNAM prosthesis used to direct growth of the alveolar segments, lips, and nose in the presurgical treatment of cleft lip and palate. As a result, the primary surgical repair of the lip and nose heals under minimal tension, thereby reducing scar formation and improving the esthetic result. Frequent surgical intervention to achieve the desired esthetic results can be avoided by PNAM. Copyright © 2013 Japan Prosthodontic Society. Published by Elsevier Ltd. All rights reserved.

  9. Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands.

    PubMed

    Fleurke-Rozema, J H; van de Kamp, K; Bakker, M K; Pajkrt, E; Bilardo, C M; Snijders, R J M

    2016-10-01

    To examine the accuracy and timing of diagnosis of fetal cleft lip with or without cleft palate (CL ± P) in the years following the introduction of a national screening program, and to assess the completeness and accuracy of information in The Netherlands Perinatal Registry. A list was obtained of cases with a prenatal or postnatal diagnosis of CL ± P from two fetal medicine units between 2008 and 2012. All cases of CL ± P were included irrespective of the presence or absence of additional anomalies. Cases were included if the estimated date of delivery was between 1 January 2008 and 31 December 2012. During the study period, 330 cases of CL ± P were identified, with a prevalence of 15 per 10 000 pregnancies. The number of cases that were detected before 24 weeks' gestation increased during the study period, while the rate of termination of pregnancy did not change significantly (P = 0.511). CL ± P was isolated in 217 (66%) cases and karyotype was abnormal in 69 (21%) cases. In 5% of the cases in which CL ± P seemed to be isolated during the 18-23-week anomaly scan, postnatal array comparative genomic hybridization (array-CGH) revealed an abnormal karyotype and 50% of these cases had major additional anomalies. Examination of data from The Netherlands Perinatal Registry demonstrated that in 37% of cases CL±P was not recorded in the pregnancy records. CL ± P is increasingly being diagnosed prenatally, without a significant effect on the rate of pregnancy termination. Further improvement in the diagnostic accuracy may be achieved by advocating prenatal array-CGH to reduce the frequency of unexpected anomalies being diagnosed after birth. It is important that healthcare providers register accurately the presence or absence of anomalies in the birth records to ensure that, in the future, data from The Netherlands Perinatal Registry can be relied upon to monitor prevalence. Copyright © 2015 ISUOG. Published by John Wiley

  10. Otologic Concerns for Cleft Lip and Palate Patient.

    PubMed

    Berryhill, Wayne

    2016-05-01

    Understanding eustachian tube physiology and anticipating probable eustachian tube dysfunction is an important component of cleft palate management. This article provides a brief summary of the otologic physiology and issues that may be of concern to cleft palate management. It is of critical importance not only to provide primary closure of the cleft palate, but also to recognize that along with speech, hearing has a critical component to the educational and social success of all individuals. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

    SciTech Connect

    Shaw, D.; Field, L. ); Ray, A. ); Marazita, M. )

    1993-11-01

    Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

  12. 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.

  13. Starting a Family: The Experience of Parents With Cleft Lip and/or Palate.

    PubMed

    Stock, Nicola Marie; Rumsey, Nichola

    2015-07-01

    One of the key challenges facing young adults with cleft lip and/or palate is making decisions about starting a family, because there is an increased likelihood of their own child being diagnosed with cleft lip and/or palate. Should this occur, a second key challenge is how to deal with their child's diagnosis and subsequent treatment. To explore the views, experiences and possible support needs of this unique group of parents in order to inform the services provided by nonspecialist Health Professionals, cleft teams, and genetic counselors. Individual telephone interviews eliciting qualitative data. Qualitative thematic analysis identified five themes. Accessing accurate information and appropriate support around heritability presented a significant challenge. Parents described feelings of responsibility and distress at their child's diagnosis, as well as a number of factors that had helped or hindered their adjustment. Parents also described ways in which their own experiences had impacted their parenting style and how becoming a parent had changed the way they felt about their own cleft. Young adults' understanding of what it means to grow up with cleft lip and/or palate may impact their decision to start a family and their experiences of having children. Possible methods of supporting prospective parents through this potentially difficult stage will be discussed.

  14. Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Perceptual Outcomes of Velopharyngeal Function

    ERIC Educational Resources Information Center

    Pereira, Valerie J.; Sell, Debbie; Tuomainen, Jyrki

    2013-01-01

    Background: Abnormal facial growth is a well-known sequelae of cleft lip and palate (CLP) resulting in maxillary retrusion and a class III malocclusion. In 10-50% of cases, surgical correction involving advancement of the maxilla typically by osteotomy methods is required and normally undertaken in adolescence when facial growth is complete.…

  15. Correction of unilateral cleft lip nose deformity using nasal alar rim flap.

    PubMed

    Wang, Huan; Fan, Fei; You, Jianjun; Wang, Sheng

    2012-09-01

    The objective of this study was to show the use and effectiveness of nasal alar rim flap on the correction of unilateral cleft lip nasal deformity. Thirty-one patients (age range, 10-29 years; mean, 15.1 years; 14 male and 17 female patients) with unilateral cleft lip underwent rhinoplasty surgery using alar rim flap. The excessive skin of nasal alar was marked, then a skin flap was raised. This flap can be transferred medially (type 1) or laterally (type 2) to narrow the nostril or to augment the nasal sill and, of course, to correct the alar web deformity. Preoperative and postoperative photographs were measured for photogrammetric analysis in 16 patients. The alar rim flap used in patients with unilateral cleft lip made the nostrils more symmetrical. The nostril sill was augmented with flap type 1. The alar base width was narrowed with flap type 2 (P = 0.03). The alar web deformity was corrected. The alar rim flap could be an ideal treatment option for correction of alar web deformity in patients of unilateral cleft lip.

  16. Speech Production in 3-Year-Old Internationally Adopted Children with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Larsson, AnnaKarin; Schölin, Johnna; Mark, Hans; Jönsson, Radi; Persson, Christina

    Background: In the last decade, a large number of children with cleft lip and palate have been adopted to Sweden. A majority of the children were born in China and they usually arrive in Sweden with an unoperated palate. There is currently a lack of knowledge regarding speech and articulation development in this group of children, who also have to…

  17. Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Perceptual Outcomes of Velopharyngeal Function

    ERIC Educational Resources Information Center

    Pereira, Valerie J.; Sell, Debbie; Tuomainen, Jyrki

    2013-01-01

    Background: Abnormal facial growth is a well-known sequelae of cleft lip and palate (CLP) resulting in maxillary retrusion and a class III malocclusion. In 10-50% of cases, surgical correction involving advancement of the maxilla typically by osteotomy methods is required and normally undertaken in adolescence when facial growth is complete.…

  18. The Effect of Cleft Lip on Socio-Emotional Functioning in School-Aged Children

    ERIC Educational Resources Information Center

    Murray, Lynne; Arteche, Adriane; Bingley, Caroline; Hentges, Francoise; Bishop, Dorothy V. M.; Dalton, Louise; Goodacre, Tim; Hill, Jonathan

    2010-01-01

    Background: Children with cleft lip are known to be at raised risk for socio-emotional difficulties, but the nature of these problems and their causes are incompletely understood; longitudinal studies are required that include comprehensive assessment of child functioning, and consideration of developmental mechanisms. Method: Children with cleft…

  19. Educational Programming: A Seminar for Young Adults with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Imhoff, Michael; And Others

    1981-01-01

    The social service staff of the H. K. Cooper Clinic (Lancaster, Pennsylvania) conducted a seminar for young adults with cleft lip and palate (CL/P) and their families. The seminar was designed to respond to questions and concerns regarding the impact of CL/P on employment, social relations, and genetics. (SB)

  20. Bilingual Children with Nonsyndromic Cleft Lip and/or Palate: Language and Memory Skills

    ERIC Educational Resources Information Center

    Young, Selena Ee-Li; Purcell, Alison Anne; Ballard, Kirrie Jane; Liow, Susan Jane Rickard; Ramos, Sara Da Silva; Heard, Robert

    2012-01-01

    Purpose: Research shows that monolingual children with cleft lip and/or palate (CLP) have a higher incidence of cognitive-linguistic deficits, but it is not clear whether bilingual preschool children with CLP are especially vulnerable because they need to acquire 2 languages. We tested the hypothesis that bilingual children with CLP score lower…

  1. The Burden of Care for Children With Unilateral Cleft Lip: A Systematic Review of Revision Surgery.

    PubMed

    Sitzman, Thomas J; Coyne, Sarah M; Britto, Maria T

    2016-07-01

    To identify the average rate of revision surgery following cleft lip repair. PubMed, CINAHL, and SCOPUS were searched from database inception through March 2013 using the search terms cleft lip and surgery. Two investigators independently screened all abstracts and determined eligibility from review of full manuscripts using prespecified inclusion and exclusion criteria. Strengths and limitation of the studies were assessed, followed by qualitative synthesis. The I(2) test of homogeneity was performed to determine if meta-analysis was appropriate. The search identified 3034 articles. Of those, 45 met the inclusion criteria. Studies were primarily case series and retrospective cohort studies, with only one randomized controlled trial. One-third of studies (n = 15) did not describe how the study sample was selected. Follow-up duration was not reported in one-fourth of studies (n = 11). Nasolabial aesthetics were reported in 44% of studies (n = 20). The incidence of revision surgery ranged from 0% to 100%. Meta-analysis was precluded because of study heterogeneity (I(2) = 97%). The average incidence of cleft lip revision surgery cannot be estimated from the published literature, due to significant heterogeneity among existing reports and limited study quality. To provide valid information about the burden of care for unilateral cleft lip, a population-based or multicenter longitudinal cohort study is necessary; this study should measure the number of surgical procedures and the patient's aesthetic outcomes.

  2. Cleft lip and cone-rod dystrophy in a consanguineous sibship.

    PubMed

    Ausems, M G; Wittebol-Post, D; Hennekam, R C

    1996-10-01

    Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.

  3. Perpendicular serial maxillary distraction osteogenesis in cleft lip and palate patients

    PubMed Central

    Ylikontiola, Leena P.; Sándor, George K.; Harila, Virpi

    2015-01-01

    Background: Cleft lip and palate patients often have a retruded maxilla with a severely narrowed deficient maxillary arch. This report aims to describe the management of severe maxillary retrusion and constriction in cleft lip and palate patients using distraction osteogenesis applied in serial sequence in two directions perpendicular to each other. Materials and Methods: Two adult male cleft lip and palate patients were treated with maxillary distraction osteogenesis in two stages. In the first stage, surgically assisted rapid palatal expansion with a tooth-borne device was performed to significantly expand the maxillary arch in the transverse dimension. After the teeth were orthodontically aligned, the horizontal distraction of the maxilla was made by two internal maxillary distraction devices. Results: In the first patient, the maxilla was initially widened by 11 mm and then distracted forward by 20 mm. Despite the breakage of the shaft of one of the two distractors at the end of distraction, a satisfactory occlusion was found at the time of distractor device removal. The maxillary position has remained stable through 8 years of follow-up. In the second patient, the palate was widened by 14 mm and the maxilla was distracted forward by 22 mm. The maxillary position has remained stable through 3 years of follow-up. Conclusion: Sequential serial distraction of maxilla in two planes perpendicular to each other is a safe and stable approach for the treatment of cleft lip and palate patients with severe transverse and anteroposterior discrepancies. PMID:26981462

  4. Perpendicular serial maxillary distraction osteogenesis in cleft lip and palate patients.

    PubMed

    Ylikontiola, Leena P; Sándor, George K; Harila, Virpi

    2015-01-01

    Cleft lip and palate patients often have a retruded maxilla with a severely narrowed deficient maxillary arch. This report aims to describe the management of severe maxillary retrusion and constriction in cleft lip and palate patients using distraction osteogenesis applied in serial sequence in two directions perpendicular to each other. Two adult male cleft lip and palate patients were treated with maxillary distraction osteogenesis in two stages. In the first stage, surgically assisted rapid palatal expansion with a tooth-borne device was performed to significantly expand the maxillary arch in the transverse dimension. After the teeth were orthodontically aligned, the horizontal distraction of the maxilla was made by two internal maxillary distraction devices. In the first patient, the maxilla was initially widened by 11 mm and then distracted forward by 20 mm. Despite the breakage of the shaft of one of the two distractors at the end of distraction, a satisfactory occlusion was found at the time of distractor device removal. The maxillary position has remained stable through 8 years of follow-up. In the second patient, the palate was widened by 14 mm and the maxilla was distracted forward by 22 mm. The maxillary position has remained stable through 3 years of follow-up. Sequential serial distraction of maxilla in two planes perpendicular to each other is a safe and stable approach for the treatment of cleft lip and palate patients with severe transverse and anteroposterior discrepancies.

  5. The Effect of Cleft Lip on Socio-Emotional Functioning in School-Aged Children

    ERIC Educational Resources Information Center

    Murray, Lynne; Arteche, Adriane; Bingley, Caroline; Hentges, Francoise; Bishop, Dorothy V. M.; Dalton, Louise; Goodacre, Tim; Hill, Jonathan

    2010-01-01

    Background: Children with cleft lip are known to be at raised risk for socio-emotional difficulties, but the nature of these problems and their causes are incompletely understood; longitudinal studies are required that include comprehensive assessment of child functioning, and consideration of developmental mechanisms. Method: Children with cleft…

  6. Bilingual Children with Nonsyndromic Cleft Lip and/or Palate: Language and Memory Skills

    ERIC Educational Resources Information Center

    Young, Selena Ee-Li; Purcell, Alison Anne; Ballard, Kirrie Jane; Liow, Susan Jane Rickard; Ramos, Sara Da Silva; Heard, Robert

    2012-01-01

    Purpose: Research shows that monolingual children with cleft lip and/or palate (CLP) have a higher incidence of cognitive-linguistic deficits, but it is not clear whether bilingual preschool children with CLP are especially vulnerable because they need to acquire 2 languages. We tested the hypothesis that bilingual children with CLP score lower…

  7. Educational Programming: A Seminar for Young Adults with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Imhoff, Michael; And Others

    1981-01-01

    The social service staff of the H. K. Cooper Clinic (Lancaster, Pennsylvania) conducted a seminar for young adults with cleft lip and palate (CL/P) and their families. The seminar was designed to respond to questions and concerns regarding the impact of CL/P on employment, social relations, and genetics. (SB)

  8. [Guidance to parent of black babies with a cleft lip and palate].

    PubMed

    Campbell, C; Louw, B

    1992-01-01

    There are indications that the parents of babies with a cleft lip and palate often require more information regarding their baby's birth defect than what is given to them. In South Africa shortcomings exist in the literature covering the specific requirements of parents of black cleft lip and palate babies. In this study the unique requirements of parents of black cleft lip and palate babies was determined and, based on these results, an information pamphlet was prepared for this population group. Based on the results obtained with the help of fifteen participants it was established, firstly, that the needs of black South-African parents of children with a cleft lip and palate are similar to the needs of parents of babies with the same birth defect world-wide. Secondly, it was established that the information pamphlet which was compiled as part of the study made a positive contribution to parent guidance conducted with the participants. Important therapeutic implications were also reflected by the results.

  9. Initial size of cleft does not correlate with size and function of nasal airway in adults with unilateral cleft lip and palate.

    PubMed

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

    2011-06-01

    The noses of patients with clefts are often functionally inadequate. The aim of the present study was to evaluate the correlation between size of the maxillary cleft in infancy and size and function of the nasal airway in adults with unilateral cleft lip and palate (UCLP). This is a long-term follow up study including 53 patients with UCLP born between 1960 and 1987 and treated at the Cleft Lip and Palate Centre, Uppsala University Hospital, Sweden. Lip repair was performed at 3-4 months of age followed by either a one-stage or a two-stage palatal closure. The size of the cleft was measured on infant maxillary dental casts. Nasal minimum cross-sectional area (cm(2)) and volume (cm(3)) (acoustic rhinometry), air flow resistance (Pa s/cm(3)) (rhinomanometry), peak inspiratory flow (l/min) (peak nasal inspiratory flow) and number of identified odours (Scandinavian odor-identification test) were assessed in adulthood. The size of the maxillary cleft varied considerably at infancy. The size of the nasal airway and its function on the cleft side in adulthood were reduced compared with the non-cleft side, but no correlations were found between size of the initial cleft in infancy and size and function of the nasal airway in adulthood. In adults born with UCLP, therefore, size of the maxillary cleft in infancy does not seem to affect size and function of the nasal airway in adulthood.

  10. 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

  11. 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.

  12. 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

  13. Dental anomalies in children with cleft lip and palate in Western Australia

    PubMed Central

    Nicholls, Wendy

    2016-01-01

    Objective: The purpose of this paper was to describe the prevalence and type of dental anomalies in the primary and permanent dentition in children with a cleft condition at Princess Margaret Hospital in Perth, Western Australia. Materials and Methods: The details of 162 current dental patients extracted from the main dental database through their year of birth for the period 1998–2001 were selected consecutively. Dental records and X-rays were examined by one examiner (WN) and verified by a second examiner (RB) to determine dental development. The mean age of the subjects was 10.8 years with equal numbers of males and females. Subjects were further divided into cleft type; unilateral cleft lip (UCL) and palate, bilateral cleft lip (BCL) and palate, UCL, BCL, and cleft palate. Results: One hundred sixty-two subjects were grouped into 21 categories of anomaly or abnormality. Prevalence rates for the categories were calculated for the overall group and for gender and cleft type. Conclusion: Overall, 94% of patients were found to have at least one dental anomaly, with fifty-six (34%) patients having more than one anomaly or abnormality. PMID:27095907

  14. 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

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

    SciTech Connect

    Christensen, K.; Holm, N.V.; Kock, K. ); Olsen, J. ); Fogh-Anderson, P.

    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 biased 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.

  16. PATTERN OF DISOCCLUSION IN PATIENTS WITH COMPLETE CLEFT LIP AND PALATE

    PubMed Central

    Matos, Daniella Andaluza Dias; Teixeira, Marcelo Lucchesi; Pinto, João Henrique Nogueira; Lopes, José Fernando Scarelli; Dalben, Gisele da Silva

    2006-01-01

    Objective: to analyze the pattern of disocclusion during excursive mandibular movements and presence or absence of occlusal interferences and occlusal pathologies (gingival recession and abfraction). Method: examination of 120 individuals divided into two groups, as follows: Group 1-90 patients with complete cleft lip and palate (study group), subdivided into 30 patients with complete left unilateral cleft lip and palate, 30 patients with complete right unilateral cleft lip and palate and 30 patients with complete bilateral cleft lip and palate; Group 2-30 individuals without clefts (control group). Results: 58.8% of patients in Group 1 presented unilateral or bilateral canine guidance, 26.6% presented unilateral or bilateral group function and 54.4% presented lateral movements through the posterior teeth. Regarding protrusive movements, 80% presented anterior guidance and 20% presented posterior guidance. In Group 2, 69.6% of individuals presented unilateral or bilateral canine guidance, 43.2% presented unilateral or bilateral group function and only 13.3% presented lateral movements through the posterior teeth; 3.4% presented protrusion through the posterior teeth. Conclusions: there was no difference in the pattern of disocclusion between subgroups of patients with clefts. Group 2 presented predominance of bilateral group function, whereas Group 1 presented a higher prevalence of posterior guidance during lateral movements. Protrusion occurred primarily through anterior guidance in Group 2 and through the posterior teeth in Group 1. There was high prevalence of occlusal interferences at the molar area for both groups, yet with no correlation with occlusal pathologies (recession and abfraction). PMID:19089065

  17. Chinese children with nonsyndromic cleft lip/palate: Factors associated with hearing disorder.

    PubMed

    Ma, Xiaoran; Li, Yue Wing; Ma, Lian; McPherson, Bradley

    2016-09-01

    This study examined the auditory status of Chinese children with nonsyndromic cleft lip/palate (NSCL/P), investigated factors associated with peripheral hearing loss and compared results with earlier studies in western countries. Case history profiles and audiological data from 148 Chinese children with NSCL/P, aged between 6 and 15 years, who attended the Cleft Lip and Palate Clinic Center in a major Chinese urban hospital from July 2012 to September 2013 were acquired. The audiological status of the participants was reviewed, based on the results of their pure tone audiometry, tympanometry and acoustic reflex thresholds assessments. Factors including age, gender, cleft type, residential locality and school achievement were examined in relation to auditory status. Findings revealed that 17% of the Chinese children with NSCL/P had hearing impairment at the time of assessment. Unilateral hearing loss was noted in 12% of children and in 5% of cases bilateral hearing loss was noted. In the majority of cases the hearing loss was slight and conductive in nature. Age, gender, residential locality and school achievement were found to have no relationship with severity of hearing loss. Children with cleft lip showed a lower degree of hearing impairment than children with cleft palate or cleft lip and palate. Similar to studies for western children, Chinese children with CL/P associated with no known syndrome are at risk of peripheral hearing loss, generally of conductive type. However, the prevalence of peripheral hearing loss appears to be less than in western children with NSCL/P. Ethnic/racial factors may be a major contributing factor accounting for the discrepancies between the current results and western studies. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Predictors of poor dental arch relationship in young children with unilateral cleft lip and palate.

    PubMed

    Hsieh, Yuh-Jia; Liao, Yu-Fang; Shetty, Akshai

    2012-08-01

    The aim of this cross-sectional outcome study using retrospective data capture of treatment histories was to examine the characteristics of young children with unilateral cleft lip and palate who had poor dental arch relationship (i.e., Goslon 5). The study sample comprised 120 children born with nonsyndromic complete unilateral cleft lip and palate between 1995 and 2003, and were aged between 5.0 and 7.0 years (mean age, 5.1 years) at the time of data collection. The dental arch relationship was assessed using the Goslon yardstick from intraoral dental photographs. An independent investigator recorded treatment histories from the clinical notes. The inter- and intraexaminer agreements evaluated by weighted kappa statistics were high. There was no association between dental arch relationship and the type of presurgical orthopedics or pharyngeal flap. Dental arch relationship was associated with the initial cleft size (odds ratio, OR = 1.3; 95% confidence interval, CI = 1.1-1.5, p < 0.01), surgeon grade for palate repair (OR = 5.0, 95% CI = 1.2-19.9, p < 0.05), and primary gingivoperiosteoplasty (OR = 2.8, 95% CI = 1.0-8.1, p = 0.05). These data suggest that intraoral dental photographs provide a reliable method for rating dental arch relationship. Wide initial cleft, high-volume surgeon, and primary gingivoperiosteoplasty are predictors of poor dental arch relationship outcome in young children with unilateral cleft lip and palate. These findings may improve treatment outcome by modifying the treatment protocol for patients with unilateral cleft lip and palate.

  19. Associations between microRNA binding site SNPs in FGFs and FGFRs and the risk of non-syndromic orofacial cleft

    PubMed Central

    Li, Dandan; Zhang, Hongchuang; Ma, Lan; Han, Yue; Xu, Min; Wang, Zhendong; Jiang, Hongbing; Zhang, Weibing; Wang, Lin; Pan, Yongchu

    2016-01-01

    We hypothesized that microRNA binding site single nucleotide polymorphisms (SNPs) in fibroblast growth factors (FGFs) and their receptor genes (FGFRs) may affect microRNA and mRNA interactions and are thereby associated with susceptibility of non-syndromic orofacial cleft (NSOC). Ten SNPs among the FGF and FGFR genes were selected and their associations with NSOC susceptibility were investigated in a case-control study of 602 patients with NSOC and 605 healthy controls. FGF2/rs1048201, FGF5/rs3733336 and FGF9/rs546782 showed suggestive association with NSOC susceptibility. In the combination analysis, the observed odds ratios (ORs) decreased with the number of protective alleles (rs1048201-T, rs3733336-G and rs546782-T) but were not statistically significant beyond the first comparison. Hsa-miRNA-496, hsa-miRNA-145 and hsa-miRNA-187 were predicted to be miRNAs with binding sites within/near these SNPs and were expressed in lip tissues. Decreased FGF2, FGF5 and FGF9 expression was observed in three cell lines transfected with the corresponding miRNAs. Moreover, the three SNPs could contribute to differential binding efficacy between hsa-miRNA-496 and FGF2, hsa-miRNA-145 and FGF5, hsa-miRNA-187 and FGF9 in luciferase assay. The results suggest that FGF2/rs1048201, FGF5/rs3733336 and FGF9/rs546782 are associated with the risk of NSOC and that these miRNA-FGF interactions may affect NSOC development. PMID:27511275

  20. Feeding methods for children with cleft lip and/or palate: a systematic review.

    PubMed

    Duarte, Giesse Albeche; Ramos, Ramon Bossardi; Cardoso, Maria Cristina de Almeida Freitas

    2016-01-01

    Feeding difficulties in children with cleft lip and palate (CLP) are frequent and appear at birth due to impairment of sucking and swallowing functions. The use of appropriate feeding methods for the different types of cleft and the period of the child's life is of utmost importance for their full development. Review studies comparing feeding methods for children with CLP, pre- and postoperatively. The search covered the period between January 1990 and August 2015 in the PubMed, LILACS, SciELO, and Google Scholar databases using the terms: cleft lip or cleft palate and feeding methods or breastfeeding or swallowing disorders and their synonyms. This systematic review was recorded in PROSPERO under number CRD42014015011. Publications that compared feeding methods and published in Portuguese, English, and Spanish were included in the review. Studies with associated syndromes, orthopedic methods, or comparing surgical techniques were not included. The three reviewed studies on the period prior to surgical repair showed better feeding performance with three different methods: squeezable bottle, syringe, and paladai bottle. Only one study addressed the postoperative period of cleft lip and/or palate repair, with positive results for the feeding method with suction. Likewise, the post-lip repair studies showed better results with suction methods. After palatoplasty, two studies showed better performance with alternative feeding routes, one study with suction method, and one study that compared methods with no suction showed better results with spoon. The studies show that prior to surgical repair, the use of alternative methods can be beneficial. In the postoperative period following lip repair, methods with suction are more beneficial. However, in the postoperative period of palatoplasty, there are divergences of opinion regarding the most appropriate feeding methods. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published

  1. Dental caries in the primary dentition of german children with cleft lip, alveolus, and palate.

    PubMed

    Kirchberg, Anja; Makuch, Almut; Hemprich, Alexander; Hirsch, Christian

    2014-05-01

    Objective : The purpose of this cross-sectional study was to assess the prevalence of dental caries in children with cleft lip, alveolus, and/or cleft palate living in central Germany between 1996 and 2010. Participants : A total of 295 children 1 to 6 years of age from three birth cohorts (BC) with clefts from central Germany were included in the study. They were compared with 548 1- to 6-year-old cleft-free children from the same region. Setting : Children with clefts underwent a dental examination in an outpatient dental clinic at the University of Leipzig. The first BC was examined between 1996 and 1998, the second between 2002 and 2004, and the third between 2008 and 2010. Controls were examined at day-care centers in Leipzig during the same periods. Main Outcome Measure : The standard dental caries index for the primary dentition (dmf/t3-4) was used for clinical assessment. Results : Over the entire study period, the mean prevalence of dental caries in deciduous teeth was significantly higher (1.32 dmf/t3-4) in children with clefts compared with cleft-free children. However, a decline in caries (approximately 1 dmf/t3-4) and an increase in the proportion of children with healthy primary dentition were observed in both groups. These results represent a caries decline of 61% in children with clefts. Conclusions : Caries rates for children 1 to 6 years of age with clefts from central Germany showed a considerable decline over the last years. The caries rates for clefts patients in the third BC (2008 to 2010) was similar to that of cleft-free children in the first BC (1996 to 1998).

  2. Growth-related changes of skeletal and upper-airway features in bilateral cleft lip and palate patients.

    PubMed

    Akarsu-Guven, Bengisu; Karakaya, Jale; Ozgur, Figen; Aksu, Muge

    2015-10-01

    The craniofacial morphology of subjects with cleft lip and palate differs from that of subjects without clefts. Subjects with bilateral cleft lip and palate tend to have maxillary retrognathism, a smaller mandible with an obtuse gonial angle, greater anterior upper and lower facial heights, and retroclined maxillary incisors. The purposes of this research were to compare the skeletal and upper-airway features of subjects with bilateral cleft lip and palate with the same features in control subjects without clefts and to determine the growth-related changes at different growth stages. The sample comprised 212 subjects divided into 2 groups: 68 with bilateral cleft lip and palate, and 144 controls without clefts; each group was further divided into 4 subgroups according to growth stage using the cervical vertebral maturation stage method. The subgroups were defined as early childhood (stage 1), prepubertal (stage 2), pubertal (stage 3), and postpubertal (stage 4). The cephalometric variables were evaluated with 2-way analysis of variance and the Bonferroni test. Maxillary position showed no significant differences between the male groups. The maxilla was more prognathic at stage 2 and became more retrognathic at stages 3 and 4 in the females. The mandible was more retrusive in the bilateral cleft lip and palate subjects at stage 1 in males and at stages 3 and 4 in females. ANB was larger at stages 1 and 2, and it became similar to the controls at stages 3 and 4 in male and female bilateral cleft lip and palate subjects. Vertical growth was seen in the bilateral cleft lip and palate subjects regardless of sex, and no change was observed with age. Posterior airway space was narrower in all stages (except for stage 1 in females). Middle airway space was wider after stage 1 in the male and female bilateral cleft lip and palate subjects. Inferior airway space was narrower in the male bilateral cleft lip and palate patients at the early childhood and pubertal stages. Age

  3. Bite force of children with repaired unilateral and bilateral cleft lip and palate.

    PubMed

    Garcia, Michele Alves; Rios, Daniela; Honório, Heitor Marques; Trindade-Suedam, Ivy Kiemle

    2016-08-01

    To assess the bite force (BF) of children with repaired cleft lip and palate (CLP). Children aged 6-12 years, with and without CLP, were divided into the following 5 groups: (1) control group (CON): 34 children without CLP (17 female, 17 male, mean age 8.2±1.4); (2) cleft lip group (CL): 31 children with cleft lip involving the pre-maxilla (15 female, 16 male, mean age 9.7±1.3); (3) unilateral CLP group (UCLP): 36 children with complete unilateral CLP (11 female, 25 male, mean age 9.4±1.6); (4) bilateral CLP group (BCLP): 32 children with complete bilateral CLP (11 female, 21 male, mean age 9.5±1.7); and 5) cleft palate group (CP): 17 children with complete cleft palate (9 female, 8 male, mean age 9.4±1.6). Briefly, in this clinical trial, BF was assessed before alveolar bone grafting with a gnathodynamometer (IDDK, Kratos, Cotia, SP, Brazil). For CON, BCLP, CL and CP groups, BF was obtained in the anterior and posterior region of the maxilla. For the UCLP group, BF was assessed in the anterior and posterior regions of both segments. Differences among groups were evaluated by ANOVA test, and Tukey's test was used to assess any correlations among variables (P<0.05). Unexpectedly, no differences of BF were observed among CON and any of the cleft groups. However, a stronger BF was observed in the CL group when compared to the UCLP and BCLP groups. Next, no differences were observed between the cleft side and the noncleft side in the UCLP group. Lastly, in all groups, BFs from the anterior region of the maxilla were less when compared to the posterior regions. The BF of children with CLP is no different from children without CLP. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Epidemiology of cleft lip and palate among Jews and Bedouins in the Negev.

    PubMed

    Silberstein, Eldad; Silberstein, Tali; Elhanan, Emil; Bar-Droma, Eitan; Bogdanov-Berezovsky, Alexander; Rosenberg, Lior

    2012-06-01

    Clefts of the lip and palate are the most common significant congenital birth anomaly of the orofacial region. The condition may vary from a minor easily correctable cleft to a significant functional and cosmetic incapacitation. This is the first epidemiological study of orofacial clefts in the Negev region in Israel. To establish the frequency of cleft lip and palate in the population of the Negev, characterize the demographic features of affected individuals and find possible risk factors, compare the risk in two major population groups: Bedouin and Jewish in a well-defined geographic area, and determine whether there is a change overtime in the birth of babies with facial clefts. We conducted a retrospective survey of the Soroka Medical Center archives. The sample population comprised all 131,218 babies born at Soroka during the 11 year period 1 January 1996 to 31 December 2006. Statistical tests used Pearson's chi-square test, Student's t-test and Spearman's correlation coefficient test according to the type of parameter tested. During the study period 140 babies were born with orofacial cleft. The overall incidence of cleft lip and palate was 1.067/1000. The incidence of facial clefts was 1.54/1000 among Bedouins and 0.48/1000 among Jews (P < 0.001). Cleft palate was significantly more frequent in female than male babies (P = 0.002). Over the study years we found a significant decrease in the incidence of facial clefts in the Bedouin population, with Spearman's correlation coefficient rank -0.9 (P < 0.01). A significant decrease occurred in the incidence of facial clefts among Bedouin. This change may be attributed to prenatal care in the Bedouin Negev population as part of social and health-related behavior changes. The reduction in rates of congenital malformations, however, does not mean a reduction in the number of cases in a growing population. Also, with a modern western lifestyle, the expectancy and demand for reconstructive facial surgery and

  5. Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans

    PubMed Central

    Murray, Tanda; Taub, Margaret A.; Ruczinski, Ingo; Scott, Alan F.; Hetmanski, Jacqueline B.; Schwender, Holger; Patel, Poorav; Zhang, Tian Xiao; Munger, Ronald G.; Wilcox, Allen J.; Ye, Xiaoqian; Wang, Hong; Wu, Tao; Wu-Chou, Yah Huei; Shi, Bing; Jee, Sun Ha; Chong, Samuel; Yeow, Vincent; Murray, Jeffrey C.; Marazita, Mary L.; Beaty, Terri H.

    2013-01-01

    In a recent genome wide association study (GWAS) from an international consortium, evidence of linkage and association in chr8q24 was much stronger among non-syndromic cleft lip/palate (CL/P) case-parent trios of European ancestry than among trios of Asian ancestry. We examined marker information content and haplotype diversity across 13 recruitment sites (from Europe, USA and Asia) separately, and conducted principal components analysis (PCA) on parents. As expected, PCA revealed large genetic distances between Europeans and Asians, and a north-south cline from Korea to Singapore in Asia, with Filipino parents forming a somewhat distinct Southeast Asian cluster. Hierarchical clustering of SNP heterozygosity revealed two major clades consistent with PCA results. All genotyped SNPs giving p<10−6 in the allelic TDT showed higher heterozygosity in Europeans than Asians. On average, European ancestry parents had higher haplotype diversity than Asians. Imputing additional variants across chr8q24 increased the strength of statistical evidence among Europeans and also revealed a significant signal among Asians (although it did not reach genome-wide significance). Tests for SNP-population interaction were negative, indicating the lack of strong signal for 8q24 in families of Asian ancestry was not due to any distinct genetic effect, but could simply reflect low power due to lower allele frequencies in Asians. PMID:22508319

  6. Clefts of the lip and palate in twins: use of DNA fingerprinting for zygosity determination.

    PubMed

    Eufinger, H; Rand, S; Scholz, W; Machtens, E

    1993-11-01

    The study of twins is a well-established method for evaluating the relative roles of heredity and environmental factors in the etiology of diseases. Conclusions depend on zygosity determination and on the classification of minor forms of diseases. This paper reports on ten (5 mono- and 5 dizygotic) out of thirteen twin pairs among 1039 patients with cleft lip and palate (n = 677) or cleft palate (n = 362). Zygosity was determined using "DNA fingerprinting" on blood samples in all 10 pairs and on cleft-associated tissue in one pair. Including minor forms of clefting, two of five pairs of monozygotic and two of five pairs of dizygotic twins of the same sex showed concordance. "DNA fingerprinting" should be established as a definitive method for zygosity determination, and the calculation of concordance rates should always include minor forms of diseases.

  7. 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

  8. Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.

    PubMed

    Tonni, Gabriele; Lituania, Mario; Chitayat, David; Bonasoni, Maria Paola; Keating, Sarah; Thompson, Megan; Shannon, Patrick

    2014-12-01

    Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in this chromosomal abnormality. The first fetus investigated showed Dandy-Walker malformation, cleft lip, and cleft palate) at the second trimester scan. Cardiovascular abnormalities were characterized by a right-sided, U-shaped aortic arch associated with a ventricular septal defect (VSD). Symmetrical intrauterine growth restriction and multicystic dysplastic kidney disease were associated findings. The second fetus showed a dysmorphic face, bilateral cleft lip, hypoplastic corpus callosum, and a Dandy-Walker malformation. Postmortem examination revealed cardiovascular abnormalities such as persistent left superior vena cava draining into the coronary sinus, membranous ventricular septal defect, overriding aorta, pulmonary valve with two cusps and three sinuses, and the origin of the left subclavian artery distal to the junction of ductus arteriosus and aortic arch. Complete trisomy 9 may result in a wide spectrum of congenital abnormalities, and the presented case series contributes further details on the phenotype of this rare aneuploidy. Copyright © 2014. Published by Elsevier B.V.

  9. Nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate.

    PubMed

    Fudalej, Piotr; Katsaros, Christos; Hozyasz, Kamil; Borstlap, Wilfred A; Kuijpers-Jagtman, Anne Marie

    2012-10-01

    The objective of this study was to evaluate the association between nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate (CUCLP). Frontal and basal photographs of 60 consecutively treated children with CUCLP (cleft group: 41 boys and 19 girls, mean (SD) age 11 (2) years) and 44 children without clefts (control group: 16 boys and 28 girls, mean (SD) age 11(2) years), were used for evaluation of nasolabial symmetry and aesthetics. Nasal and labial measurements were made to calculate the coefficient of asymmetry (CA). The 5-grade aesthetic index described by Asher-McDade et al. was used to evaluate nasolabial appearance. Correlation and regression analysis were used to identify an association between aesthetics and CA, sex, and the presence of CUCLP. Ten measurements in the cleft, and 2 in the control, group differed significantly between the cleft and non-cleft (or right and left) sides, respectively. The significantly higher values of 9 of 11 CA in the children with CUCLP indicated that they had more asymmetrical nasolabial areas than children without clefts. However, the regression analyses showed that only a few CA were associated with nasolabial aesthetics. In conclusion, nasolabial aesthetics and nasolabial symmetry seem to be only weakly associated in patients with CUCLP. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  10. Location and presence of permanent teeth in a complete bilateral cleft lip and palate population.

    PubMed

    Halpern, Richard Michael; Noble, James

    2010-05-01

    To describe the location and presence of permanent teeth in nonsyndromic complete bilateral cleft lip and palate patients from the Manitoba Centre for Craniofacial Difference. Records of 1570 patients dating back to 1958 were assessed in this retrospective chart review. Thirty-eight patients met the inclusion criteria, providing 76 cleft site teeth: A tooth on each side of the cleft was considered to have developed from a single lateral incisor tooth bud. The pattern M was assigned when a tooth was found mesial to the cleft, D when distal, MD when mesial and distal and AB if none was found. Pattern M was noted 9.2% of the time; D, 47.4%; MD, 5.3%; and AB, 38.2%. Teeth outside the cleft site: In the maxilla, agenesis occurred in 11.9% of second premolars and 10.5% of central incisors. In the mandible, agenesis occurred in 4.0% of second premolars, 2.6% of lateral incisors, 2.6% of central incisors, and 2.6% of second molars. The lateral incisor was most commonly found distal to the cleft. Agenesis of the lateral incisor and teeth outside the cleft were more common than in noncleft populations.

  11. Current status of presurgical infant orthopaedic treatment for cleft lip and palate patients: A critical review

    PubMed Central

    Niranjane, P. Priyanka; Kamble, R. H.; Diagavane, S. Pallavi; Shrivastav, S. Sunita; Batra, Puneet; Vasudevan, S. D.; Patil, Pushkar

    2014-01-01

    Rehabilitation of cleft lip and palate (CLP) patients is a challenge for all the concerned members of the cleft team, and various treatment modalities have been attempted to obtain aesthetic results. Presurgical infant orthopaedics (PSIO) was introduced to reshape alveolar and nasal segments prior to surgical repair of cleft lip. However, literature reports lot of controversy regarding the use of PSIO in patients with CLP. Evaluation of long-term results of PSIO can provide scientific evidence on the efficacy and usefulness of PSIO in CLP patients. The aim was to assess the scientific evidence on the efficiency of PSIO appliances in patients with CLP and to critically analyse the current status of PSIO. A PubMed search was performed using the terms PSIO, presurgical nasoalveolar moulding and its long-term results and related articles were selected for the review. The documented studies report no beneficial effect of PSIO on maxillary arch dimensions, facial aesthetics and in the subsequent development of dentition and occlusion in CLP patients. Nasal moulding seems to be more beneficial and effective in unilateral cleft lip and palate patients with better long-term results. PMID:25593413

  12. 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.

  13. 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.

  14. Natal teeth: a potential impediment to nasoalveolar molding in infants with cleft lip and palate.

    PubMed

    Ziai, Mandana N; Bock, Derek J; Da Silveira, Adriana; Daw, Joseph L

    2005-03-01

    The purpose of this article is to describe two cases of bilateral cleft lip and palate with natal/neonatal teeth. Clinical features, prevalence, possible complications, and treatment modalities are discussed. Two patients with cleft lip and palate and natal/neonatal teeth are described. The first patient was a 4-week-old infant with bilateral cleft lip and palate. On initial inspection an odontogenic vestige was noticed on the right lateral border of the premaxillary segment, bordering the cleft. The second patient was a newborn with a vestige on the right side of the premaxilla. At 20 days, another swelling representing a neonatal tooth on the left side was found. Because the teeth interfered with the fabrication and application of the nasoalveolar molding (NAM) appliance, they were removed from both patients. In the first patient, at 1 week after extraction, the NAM device was placed without difficulty. At 8 months, the infant had adapted well to the NAM device and nursed without problems. The second patient did not follow-up for the placement of the NAM device. In patients with cleft lip and palate with natal/neonatal teeth who require NAM, the tooth must be removed to facilitate the fabrication and placement of the device. Natal/neonatal teeth must be extracted with caution because the tooth buds of neighboring teeth may be damaged and remnants of the dental papillae may be left behind. Although general anesthesia is not always indicated for the removal of these teeth, in cases in which the premaxilla is loose, such as the current cases, general anesthesia is warranted.

  15. Latham's appliance for presurgical repositioning of the protruded premaxilla in bilateral cleft lip and palate.

    PubMed

    Bitter, K

    1992-04-01

    Dislocation of the maxillary segments in cleft lip and palate still is a challenge to the surgeon and the orthodontist. The premaxillary protrusion in bilateral cleft lip and palate, complicates the treatment severely. Latham's appliance, inserted on average at 2-months-of-age, relocates the segments over 3-4 weeks. Removal of the appliance is immediately followed by functional surgery. The first operation comprises: (1) intra-alveolar veloplasty; (2) closure of the alveolar cleft with the help of a gingivo-periosteal-plasty; (3) lip adhesion and (4) insertion of ear tubes. This operating schedule establishes the functional matrix as early as possible. Midfacial growth as well as language and speech development are provided with the necessary preconditions as far as we understand this complex situation. Five cases, being representative of 41 cases, are outlined in detail. The longest follow up period is 3 years; no growth disturbance of the maxilla has been detected to date. Definitive lip and columella surgery is facilitated.

  16. Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis.

    PubMed

    Everson, Joshua L; Fink, Dustin M; Yoon, Joon Won; Leslie, Elizabeth J; Kietzman, Henry W; Ansen-Wilson, Lydia J; Chung, Hannah M; Walterhouse, David O; Marazita, Mary L; Lipinski, Robert J

    2017-06-01

    Cleft lip is one of the most common human birth defects, yet our understanding of the mechanisms that regulate lip morphogenesis is limited. Here, we show in mice that sonic hedgehog (Shh)-induced proliferation of cranial neural crest cell (cNCC) mesenchyme is required for upper lip closure. Gene expression profiling revealed a subset of Forkhead box (Fox) genes that are regulated by Shh signaling during lip morphogenesis. During cleft pathogenesis, reduced proliferation in the medial nasal process mesenchyme paralleled the domain of reduced Foxf2 and Gli1 expression. SHH ligand induction of Foxf2 expression was dependent upon Shh pathway effectors in cNCCs, while a functional GLI-binding site was identified downstream of Foxf2 Consistent with the cellular mechanism demonstrated for cleft lip pathogenesis, we found that either SHH ligand addition or FOXF2 overexpression is sufficient to induce cNCC proliferation. Finally, analysis of a large multi-ethnic human population with cleft lip identified clusters of single-nucleotide polymorphisms in FOXF2 These data suggest that direct targeting of Foxf2 by Shh signaling drives cNCC mesenchyme proliferation during upper lip morphogenesis, and that disruption of this sequence results in cleft lip. © 2017. Published by The Company of Biologists Ltd.

  17. Clinical and Radiographic Assessment of Secondary Bone Graft Outcomes in Cleft Lip and Palate Patients

    PubMed Central

    Khalil, W.; de Musis, C. R.; Volpato, L. E. R.; Veiga, K. A.; Vieira, E. M. M.; Aranha, A. M.

    2014-01-01

    Purpose. To compare the results of secondary alveolar bone grafts in patients with complete cleft lip and cleft lip and palate using 2 radiographic scales and according to the rate of canine eruption through the newly formed bone. Materials and Methods. We analyzed pre- and postoperative radiographs of 36 patients for the amount of bone in the cleft site according to the Bergland and Chelsea scales. The associations between the variables and the correlation between the scales were measured. Results. A total of 54.2% and 20.8% of cases were classified as type I and type II, respectively, using the Bergland scale, whereas 50% and 22.5% were classified as types A and C, respectively, using the Chelsea scale. A positive correlation between the 2 scales was observed. In 33.3% of males, 58.3% of females, 54.5% of unilateral cleft cases, and 12.5% of bilateral cleft cases, the permanent canines had erupted. Bone grafts performed prior to canine eruption achieved more satisfactory results. Conclusions. Our results suggest that both radiographic scales are important tools for the evaluation of bone grafts. Additionally, longer time periods of evaluation were associated with improved results for patients with secondary alveolar bone grafts. PMID:27351004

  18. Influence of alveolar-bone grafting on the nasal profile: unilateral cleft lips, alveoli, and palates.

    PubMed

    Wu, Yilai; Wang, Guomin; Yang, Yusheng; Zhang, Yong

    2010-11-01

    Secondary bone grafting plays an important role in the multimodal therapy of patients with cleft lips, alveoli, or palates. Through a comparative study of the nasal profile before and after alveolar bone grafting, this article aimed to determine the appropriate timing of operation and keys to success. In the study, 38 cases (23 boys and 15 girls aged 9-13 years, with an average of 11.4 years) were examined of patients with unilateral cleft lips or palates, upon whom secondary bone grafting was performed under general anesthesia. Comparative studies are conducted on their nostril widths and heights in both the cleft side and the noncleft side as well as the widths and angles of the alar bases measured in the preoperative, postoperative, and follow-up (6 months) periods respectively. Of the 29 cases examined 6 months after the operation, 4 indicate failure as the amount of bone loss exceeds 50%, whereas in the other 25 cases, both the nostril widths of the cleft side have increased, and the nostril heights of the cleft side have decreased significantly (P < 0.01). As shown in the study, the nasal profile after alveolar bone grafting is changed obviously; thus, it is recommended that patients not receive rhinoplasty before bone grafting or have both operations at the same time.

  19. Time trend of incidence rates of cleft lip/palate in Taiwan from 1994 to 2013.

    PubMed

    Chang, Wei-Jung; See, Lai-Chu; Lo, Lun-Jou

    2016-04-01

    This study was to estimate the incidence rate of cleft lip and/or cleft palate (CL/P) in Taiwan from 1994 to 2013, and to assess the time trend over these years. Retrospective data analysis was performed on records of all newborns with CL/P treated at Chang Gung Craniofacial Center, the only treatment center for CL/P in Taiwan, from 1994 to 2013. Three-year moving average rates were computed and linear regression was used to explore the annual average percentage change. From 1994 to 2013, 7282 newborns with CL/P were identified, corresponding to an annual rate of 1.48‰ (95% confidence interval (CI) = 1.45‰-1.52‰). There was a significant decline of rate of cleft lip with or without cleft palate (CL ± P) (-2.9% ± 0.2%, p < 0.0001) but slightly increase of rate of cleft palate (CP) only (+0.2% ± 0.07%, p = 0.004). From 1994 to 2013, the annual rate of incidence of CL/P was 1.48‰ in Taiwan. The 2.9% annual decline of the rate was mainly from the CL ± P group, not the CP group. Copyright © 2016 Chang Gung University. Published by Elsevier B.V. All rights reserved.

  20. Innate lymphoid cells: a paradigm for low SSI in cleft lip repair.

    PubMed

    Simmerman, Erika; Qin, Xu; Marshall, Brendan; Perry, Libby; Cai, Lei; Wang, Tailing; Yu, Jack; Akbari, Omid; Baban, Babak

    2016-10-01

    Cleft lip and palate reconstructions demonstrate significantly lower surgical site infection rates compared with clean-contaminated cases, prompting investigation into the pathophysiology causing this discrepancy. Recent studies have identified a new group of innate lymphocytes called innate lymphoid cells (ILCs), located in barrier surfaces of the skin, airways, and intestine. Our objectives were to explore for the first time the presence of ILCs in the vermillion of neonates and young children undergoing cleft lip reconstruction and characterize their composition by measuring the three classes of ILCs. Lip tissue samples were collected from 13 subjects undergoing vermillion resection during cleft lip reconstructive surgery. Preparative, transmission electron microscopy, and analytical flow cytometry were performed. The functionality of ILCs was tested in terms of their capacity to produce type 1 (IFN-γ/TNF-α), type 2 (IL-5/IL-13), and type 3 (IL-17/IL-22) cytokines. Data were analyzed using Student t test or the analysis of variance to establish significance (P < 0.05) among groups for all other data. All three classes of ILCs were detected and visualized in the tissue samples. In all samples, the level of ILC2 subset was significantly higher than the other two ILC subsets (P < 0.01), followed by the ILC1 subset, which was present in significantly higher levels than the ILC3 subset (P < 0.05). Our data place ILCs for the first time in the interface of oral mucosal immunity, tissue microenvironment, and homeostasis during and after tissue development, possibly explaining lower infection rates in cleft lip or palate reconstructions. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS.

    PubMed

    Girisha, K M; Nayak, S S; Shukla, A; Bhat, S K

    2015-01-01

    We report on a fetus with alobar holoprosencephaly, complete cleft lip and palate, urorectal septum malformation sequence and perineal hernia. To our knowledge this appears to be a novel fetal malformation syndrome.

  2. [Nasal septum cartilage-silica gel complex for repairing nasal deformities of unilateral cleft lip].

    PubMed

    Li, Qingwei; Sheng, Zunqi; Tang, Shengjian; Yang, Biaobing; Yu, Xiaohua

    2009-07-01

    To evaluate the operative methods and therapeutic effects of nasal septum cartilage-silica gel complex for two-stage repair of nasal deformities of unilateral cleft lip. From June 2001 to June 2007, 38 cases of secondary nasal deformity and septum deviation of cleft lip were treated with transplanting nasal septum cartilage-silica gel complex. Among of them, there were 21 males and 17 females, aging 14-23 years with an average of 17.6 years. All cases were with nasal deformities of unilateral cleft lip, including 21 cases of complete cleft lip and 17 cases of incomplete cleft lip. The locations were left side in 26 cases and right side in 12 cases. Nasal deformities were columella nasi deflexion, flattened nasal tip, pteleorrhine and alanasi collapse. The patients received 1-4 times operations, and the interval of two operations was 3-10 years (mean 5.5 years). According to nasal deformity, the nasal septum cartilage of 1.8 cm x 1.2 cm was cut, and transplanted into the nose point phantom surface forming "the shield" to extend nose column and to raise the tip of the nose. At the same time the nasal tip fat-connective tissue flap graft with fat knot was given. After fixation, the nasal alar cartilage and soft tissues were reduced to normal position. Primary healing of the incisions was achieved in all cases. The nasal deformity was corrected. The postoperative follow-up period was 12-18 months with an average of 15.6 months. All the patients of regional cartilage scars had no complication. The figure of nose was slinky, the height of apex of nose and the shape of nose was natural, the apex of nose, nasal ala, nostrils and nasal columella were satisfactory [(the results were satisfactory in 30 cases (78.9%), general in 8 cases (21.1%)]. The nose department overall esthetics shape was improved in all the patients, no complications of the phantom sliding, shifting and exposure, hemorrhage and infection occurred. The nasal septum cartilage-silica gel complex to repair

  3. A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate

    PubMed Central

    Tanasiewicz, Marta

    2017-01-01

    Few reports have been published on the early microbiota in infants with various types of cleft palate. We assessed the formation of the oral microbiota in infants with complete cleft lip and palate (CLP n = 30) or cleft soft palate (CSP n = 25) in the neonatal period (T1 time) and again in the gum pad stage (T2 time). Culture swabs from the tongue, palate, and/or cleft margin at T1 and T2 were taken. We analysed the prevalence of the given bacterial species (the percentage) and the proportions in which the palate and tongue were colonised by each microorganism. At T1, Streptococcus mitis (S. mitis) were the most frequently detected in subjects with CLP or CSP (63% and 60%, resp.). A significantly higher frequency of methicillin-sensitive Staphylococcus aureus (S. aureus MSSA) was observed in CLP compared to the CSP group. At T2, significantly higher percentages of S. mitis, S. aureus MSSA, Staphylococcus epidermidis, and members of the Enterobacteriaceae family were noted in CLP infants compared to the CSP. S. mitis and Streptococcus sanguinis appeared with the greatest frequency on the tongue, whereas Streptococcus salivarius was predominant on the palate. The development of the microbiota in CLP subjects was characterised by a significant increase in the prevalence of pathogenic bacteria. PMID:28393073

  4. A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate.

    PubMed

    Machorowska-Pieniążek, Agnieszka; Mertas, Anna; Skucha-Nowak, Małgorzata; Tanasiewicz, Marta; Morawiec, Tadeusz

    2017-01-01

    Few reports have been published on the early microbiota in infants with various types of cleft palate. We assessed the formation of the oral microbiota in infants with complete cleft lip and palate (CLP n = 30) or cleft soft palate (CSP n = 25) in the neonatal period (T1 time) and again in the gum pad stage (T2 time). Culture swabs from the tongue, palate, and/or cleft margin at T1 and T2 were taken. We analysed the prevalence of the given bacterial species (the percentage) and the proportions in which the palate and tongue were colonised by each microorganism. At T1, Streptococcus mitis (S. mitis) were the most frequently detected in subjects with CLP or CSP (63% and 60%, resp.). A significantly higher frequency of methicillin-sensitive Staphylococcus aureus (S. aureus MSSA) was observed in CLP compared to the CSP group. At T2, significantly higher percentages of S. mitis, S. aureus MSSA, Staphylococcus epidermidis, and members of the Enterobacteriaceae family were noted in CLP infants compared to the CSP. S. mitis and Streptococcus sanguinis appeared with the greatest frequency on the tongue, whereas Streptococcus salivarius was predominant on the palate. The development of the microbiota in CLP subjects was characterised by a significant increase in the prevalence of pathogenic bacteria.

  5. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia.

    PubMed

    Rahman, Roselinda Abdul; Ahmad, Azlina; Rahman, Zainal Ariff Abdul; Mokhtar, Khairani Idah; Lah, Nik Ahmad Shah Nik; Zilfalil, Bin Alwi; Samsudin, Ab Rani

    2008-11-01

    To determine the frequency of the transforming growth factor-alpha (TGFalpha) Taq1 polymorphism in nonsyndromic cleft lip with or without cleft palate (CL+/-P) and cleft palate only (CP) in Kelantan, Malaysia. The study was conducted at the Combined Cleft Clinic and at the Human Genome Centre in Hospital Universiti Sains Malaysia in Kelantan, Malaysia. We examined the C2/Taq1 variant of the TGFalpha gene in 46 patients with nonsyndromic CL+/-P or CP only and in 33 controls. The TGFalpha genotype frequencies in patients were compared with those in controls using the chi-square or Fisher exact test. DNA samples were obtained from peripheral blood. No association was found between TGFalphaTaq1 polymorphism and CL+/-P or CP in this case-control study. In addition, no homozygosity for the rare allele C2 was noted in CL+/-P, CP, or the controls. No evidence of TGFalphaTaq1 polymorphism was observed in association with CL+/-P and CP in this study.

  6. [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.

  7. 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

  8. Duplication of mental nerve in a patient with cleft lip-palate and rubella syndrome.

    PubMed

    Goodday, R H; Precious, D S

    1988-02-01

    A case of duplication of the mental nerve in a patient with cleft lip, cleft palate, and rubella syndrome is presented. The most vulnerable period of fetal infection by rubella virus corresponds with the critical period of development of the maxilla, mandible, and corresponding orofacial structures. The significance of duplication of the mental nerve is discussed in relation to the influence that this anatomic structure has on the growth and development of the mandible. The concept of activisms to explain such anomalies is reviewed.

  9. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    PubMed

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy.

  10. [Analysis of quality of life of 115 parents with cleft lip and/or palate children].

    PubMed

    Yanyan, Zhang; Caixia, Gong; Hongyan, Wu; Ying, Chen; Xiaolin, Zhang; Yuye, Liang; Pin, Ha; Bing, Shi

    2015-04-01

    To investigate the quality of life of cleft lip and/or palate children's parents and discuss the factors to provide the oretical basis for improving the quality of life of these parents and promoting the healthy growth of children with cleft lip and/or palate. A total of 115 parents whose children had cleft lip and/or palate surgery treatment were selected as the experiment group, and another 198 parents (with healthy children having a similar age with those in the experiment group) as the control group. The experiment group was divided into three subgroups according to different types of cleft lip and/or palate: cleft Lip (CL), cleft palate (CP), cleft lip and palate (CLP). The experiment group and the control group were both divided into four subgroups according to age: 0-1, 1-3, 3-6 years old, and more than 6 years old. The experiment group and the control group were both divided into three subgroups according to education: junior middle school and the following, high school and technical secondary school, junior college degree or above. The GQOLI-74 scale was selected to assess the experiment group and the control group. SPSS 16.0 software was used to analyze data. 1) The experiment group had no significant difference with the control group in terms of the overall score and the scores of various children ages. 2) The scores of every item had no significant difference in CL, CP, CLP subgroup (P > 0.05). 3) The quality of life scores and scores of psychological function dimension and social function dimension of parents with 3-6 years old patients were obviously lower than those of parents with more than 6 years old patients (P<0.05). The scores of social function dimension of parents with 0-1, 1-3, 3-6 years old patients were obviously lower than those of parents with more than 6 years old patients (P < 0.05). The other items had no significant difference. 4) The scores of material life dimension and social function dimension of parents with junior college

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

    PubMed

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

    2016-01-01

    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. 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. 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." 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

  12. 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

  13. A preliminary report on one stage open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate: the Alor Setar experience.

    PubMed

    Trott, J A; Mohan, N

    1993-04-01

    This paper is a preliminary report on a strategy to perform open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate deformity. This method was devised to suit unique socio-economic circumstances in the Malaysian centre of Alor Setar. Of 8 cases having surgery in 1991, 7 returned for follow-up with results being documented photographically. It is concluded that this aggressive approach is justified in severe bilateral cleft lip and palate deformity because of the cost effectiveness of limiting the number of interventions. Furthermore, it provides optimally orientated nasal tip anatomy and reduces the social stigma of cleft lip nose appearance from the earliest possible time in the child's development.

  14. Preliminary Analysis of the 3-Dimensional Morphology of the Upper Lip Configuration at the Completion of Facial Expressions in Healthy Japanese Young Adults and Patients With Cleft Lip.

    PubMed

    Matsumoto, Kouzou; Nozoe, Etsuro; Okawachi, Takako; Ishihata, Kiyohide; Nishinara, Kazuhide; Nakamura, Norifumi

    2016-09-01

    To develop criteria for the analysis of upper lip configuration of patients with cleft lip while they produce various facial expressions by comparing the 3-dimensional (3D) facial morphology of healthy Japanese adults and patients with cleft lip. Twenty healthy adult Japanese volunteers (10 men, 10 women, controls) without any observed facial abnormalities and 8 patients (4 men, 4 women) with unilateral cleft lip and palate who had undergone secondary lip and nose repair were recruited for this study. Facial expressions (resting, smiling, and blowing out a candle) were recorded with 2 Artec MHT 3D scanners, and images were superimposed by aligning the T-zone of the faces. The positions of 14 specific points were set on each face, and the positional changes of specific points and symmetry of the upper lip cross-section were analyzed. Furthermore, the configuration observed in healthy controls was compared with that in patients with cleft lip before and after surgery. The mean absolute values for T-zone overlap ranged from 0.04 to 0.15 mm. Positional changes of specific points in the controls showed that the nose and lip moved backward and laterally upward when smiling and the lips moved forward and downward medially when blowing out a candle; these movements were bilaterally symmetrical in men and women. In patients with cleft lip, the positional changes of the specific points were minor compared with those of the controls while smiling and blowing out a candle. The left-versus-right symmetry of the upper lip cross-section exceeded 1.0 mm in patients with cleft lip, which was markedly higher than that in the controls (0.17 to 0.91 mm). These left-versus-right differences during facial expressions were decreased after surgery. By comparing healthy individuals with patients with cleft lip, this study has laid the basis for determining control values for facial expressions. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by

  15. Facial shape and asymmetry in 5-year-old children with repaired unilateral cleft lip and/or palate: an exploratory study using laser scanning.

    PubMed

    Djordjevic, Jelena; Lewis, Bethan M; Donaghy, Claire E; Zhurov, Alexei I; Knox, Jeremy; Hunter, Lindsay; Richmond, Stephen

    2014-10-01

    To investigate the feasibility of facial laser scanning in pre-school children and to demonstrate landmark-independent three-dimensional (3D) analyses for assessment of facial deformity in 5-year-old children with repaired non-syndromic unilateral cleft lip and/or cleft palate (UCL/P). Faces of twelve 5-year-old children with UCL/P (recruited from university hospitals in Cardiff and Swansea, UK) and 35 age-matched healthy children (recruited from a primary school in Cardiff) were laser scanned. Cleft deformity was assessed by comparing individual faces against the age and gender-matched average face of healthy children. Facial asymmetry was quantified by comparing original faces with their mirror images. All facial scans had good quality. In a group of six children with isolated cleft palate coincidence with the average norm ranged from 18.8 to 26.4 per cent. There was no statistically significant difference in facial asymmetry when compared with healthy children (P > 0.05). In a group of six children with UCL with or without cleft palate coincidence with the average norm ranged from 14.8 to 29.8 per cent. Forehead, midface and mandibular deficiencies were a consistent finding, ranging from 4 to 10mm. The amount of 3D facial asymmetry was higher in this group (P < 0.05). Facial laser scanning can be a suitable method for 3D assessment of facial morphology in pre-school children, provided children are well prepared. Landmark-independent methods of 3D analyses can contribute to understanding and quantification of facial soft tissue cleft deformity and be useful in clinical practice. © The Author 2012. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  16. Current concepts in the embryology and genetics of cleft lip and cleft palate.

    PubMed

    Marazita, Mary L; Mooney, Mark P

    2004-04-01

    Many mechanisms underlying normal and abnormal craniofacial embryogenesis are well understood. The genetic factors that provoke abnormal development and result in orofacial clefts are not clear, but much progress has occurred in our understanding. Genes or chromosomal rearrangements on many chromosomes can lead to syndromes that include orofacial clefts. This diversity in the mechanisms that can lead to syndromic clefts highlights the fact that the processes leading to the development of the oral cavity and face are complex and sensitive to disturbances at multiple timepoints or within multiple genetic domains. As for nonsyndromic clefting, large-scale family studies are consistent with one or a few loci exerting major effects on phenotypic expression, although no single gene has been identified as a "necessary" locus for development of nonsyndromic clefts. Rather, the emerging consensus is that the genetic etiology of nonsyndromic clefting is complex, with several loci showing significant results in at least some studies. Some of these loci may be genes for susceptibility to environmental factors, some may be modifying loci, and some may be "necessary" loci. Mutations in genes that are now known to control early development are logical candidate genes for future studies of nonsyndromic orofacial clefting. Continued genetic analyses and developmental studies are crucial for eventual understanding of the complex etiology of these common congenital anomalies.

  17. New neonatal classification of unilateral cleft lip and palate part 2: to predict permanent lateral incisor agenesis and maxillary growth.

    PubMed

    Doucet, Jean-Charles; Delestan, Christian; Montoya, Pedro; Matei, Lucia; Bigorre, Michèle; Herlin, Christian; Baümler, Caroline; Daures, Jean-Pierre; Captier, Guillaume

    2014-09-01

    Objectives : To bring a neonatal classification system of unilateral cleft lip and palate and to correlate this classification with the distribution of the permanent lateral incisor and maxillary growth. Design : Retrospective with longitudinal follow-up. Setting : Tertiary. Patients : A total of 112 individuals with treated unilateral cleft lip and palate and 30 controls. Main Outcome Measures : Unilateral cleft lip and palate neonatal casts were classified anatomically in four categories, in which Class 1 corresponds to a maxillary arch with a narrow alveolar cleft; Class 2 corresponds to a balanced form; Class 3 corresponds to a wide cleft and short maxilla; and Class 4 corresponds to a wide cleft and long maxilla. The classification was correlated with the distribution of the permanent lateral incisor. Maxillary growth was evaluated using a cephalometric analysis after the age of 10 years. Results : Clinical classification of unilateral cleft lip and palate found 10 cases of Class 1 (8.9%), 34 cases of Class 2 (30.4%), 46 cases of Class 3 (41.1%), and 22 cases of Class 4 (19.6%). The permanent lateral incisor was most often present in narrower clefts (Classes 1 and 2); whereas, large clefts (Classes 3 and 4) were relatively more frequently associated with an agenesis of the permanent lateral incisor (P = .019). Maxillary growth impairment was most severe in Class 3, with a mean sella-nasion-A point angle at 71.9° ± 4.6° (P < .001). Conclusions : Using the cleft width, arch form, and shape of the nasal septum, unilateral cleft lip and palate can be classified into four different classes at birth, which can all give information about permanent lateral incisor agenesis and maxillary growth.

  18. 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.

  19. Analysis for speech and esthetics in sixty consecutive patients with cleft lip and palate

    PubMed Central

    Shiraganvi, Mahantesh S; Kumar, N; Desai, A; Kiran, TUR; Gopalkrishnan, K

    2012-01-01

    Background A double-blind retrospective study was carried out at our oral and maxillofacial surgery department to assess speech and esthetics of primary cheiloplasty in patients operated for unilateral complete cleft lip, alveolus and palate. Materials and Methods Total sample size was 60. All were operated for unilateral complete cleft lip, alveolus and palate. Age range was between 1 and 21 years. Results of surgeries performed by two surgeons were assessed. The speech of all these patients was judged by a single speech therapist who was unaware of the operating surgeon. All patients were assessed for articulatory errors, namely, omission, distortion, substitution, addition and intelligibility. Sixty-eight words in local language (Kannada) were selected by the speech pathologist. All patients were subdivided into three age groups: ≤5 years, 6-10 years and ≥11 years. The cheiloplasty was assessed using VLS (V: vermilion, L: lip, S: scar) scale for vermilion, lip and scar patterns. Results and Conclusion Patients undergoing palatoplasty in ≤1 year showed good articulation between the age of 5 and 10 years. Articulation and intelligibility was maximum in patients ≥11 years. Patients at this age try various compensatory mechanisms to overcome communication disabilities. Based on the VLS scale, scarring was the least in all patients. Vermilion and lip patterns showed satisfactory results in most of the patients. PMID:25756010

  20. Secondary bilateral cleft lip-nose deformity correction by rhinoplasty with simultaneous Abbe flap

    PubMed Central

    Mokal, Nitin J.; Juneja, Manpreet

    2014-01-01

    Aim: The purpose of this article is to review modification and outcome of secondary rhinoplasty along with Abbé flap for correction of secondary bilateral cleft lip deformity. Materials and Methods: A total of thirteen patients of secondary bilateral cleft lip-nose deformity having tight upper lip, lack of acceptable philtral column, Cupid's bow definition, irregular lip scars, and associated nasal deformity were selected. All the patients received Abbé flap and simultaneous nasal correction. All cases were treated during a period of three years. Mean patient age at the time of the operation was 21 years, and ranged from 16 to 27 years. The average follow-up period was three years. Results: Assessment of results was based on comparing preoperative and postoperative clinical photographs done by surgeon and patient relatives and patient satisfaction questionnaires. The columellar lengthening and upper lip vermillion correction achieved was satisfactory. There were no perioperative complications such as airway obstruction, bleeding, infection, wound disruption, or flap necrosis. PMID:24987200

  1. Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases.

    PubMed

    Weinberg, Seth M; Brandon, Carla A; McHenry, Toby H; Neiswanger, Katherine; Deleyiannis, Frederic W B; de Salamanca, Javier E; Castilla, Eduardo E; Czeizel, Andrew E; Vieira, Alexandre R; Marazita, Mary L

    2008-07-01

    Emerging research suggests that subepithelial defects of the upper lip musculature are part of the phenotypic spectrum of cleft lip and/or palate (CL/P) and may represent an occult, subclinical manifestation of the anomaly. The present study investigates whether similar occult lip defects are present in individuals affected with isolated cleft palate (CP). To this end, upper lip ultrasounds of 33 CP cases (12 males, 21 females) were evaluated retrospectively for the presence of discontinuities (i.e., breaks) within the orbicularis oris muscle (OOM). In four CP cases (2 males, 2 females), distinct discontinuities of the OOM were identified. Of the remaining CP individuals, 23 demonstrated normal lip morphology on ultrasound (7 males, 16 females), while, in 6 cases (3 males, 3 females), a definitive evaluation was not possible. As CP and CL/P are traditionally thought to be etiologically distinct, these findings raise the possibility that some CP cases may be misclassified. Such diagnostic errors could have important implications for recurrence risk estimation and studies aimed at discovering etiology. (c) 2008 Wiley-Liss, Inc.

  2. Facial soft-tissue morphology of adolescent patients with nonsyndromic bilateral cleft lip and palate.

    PubMed

    Hasanzadeh, Nadia; Majidi, Mohammad Reza; Kianifar, Hamidreza; Eslami, Neda

    2014-01-01

    The purpose of this study was to cephalometrically evaluate the facial soft-tissue characteristics of adolescent patients with bilateral cleft lip and palate (BCLP) and to compare them with a noncleft control group. Lateral cephalometric radiographs obtained from 56 adolescents with nonsyndromic BCLP (29 boys and 27 girls) were analyzed and compared with 67 control subjects (29 boys and 38 girls) who were matched for sex, age, and ethnicity. All patients had been operated on before the age of 2 years for the surgical repair of cleft lip and palate. None had received any orthopedic or orthodontic treatment. Independent-samples t test revealed that patients with BCLP significantly differed from the control group by having a flatter facial profile, thinner and more retruded nasal base, flatter nasal tip (in males), and reduced upper-lip length. Furthermore, thicker lower-lip pit, shallower mentolabial sulcus, and increased inclination angles of the upper and lower lips relative to the horizontal plane were observed in female patients compared with the normal group. The findings of the current study suggested that adolescent patients with BCLP showed several facial soft-tissue deformities when compared with normal individuals with the same age, sex, and ethnic origin. This study provides objective measures that could lead to better treatment planning and prediction of the need for corrective surgeries in patients with BCLP.

  3. The treatment of 4-5 year-old patients with cleft lip and cleft palate in Tawanchai Center: follow-up.

    PubMed

    Pradubwong, Suteera; Pongpagatip, Sumalee; Prathanee, Benjamas; Thanawirattananit, Panida; Ratanaanekchai, Teeraporn; Chowchuen, Bowornsilp

    2012-11-01

    The highest incidence of cleft lip and cleft palate in Thailand occurs in the Northeast Region. Tawanchai Center was set up 10 years ago to be a specialized medical care center where an interdisciplinary team provides care for cleft lip and cleft palate patients. There has never previously been a study about 4-5 year old patients treated and followed-up by the multidisciplinary team. To study the 4-5 year old patient's with cleft lip and cleft palate who received treatment and follow-up in Tawanchai Center, Srinagarind Hospital. This retrospective study was conducted using data from every 4-5 years old cleft lip and cleft palate patients' medical record of the patients who had the continuous multidisciplinary treatment care at Tawanchai Center, Srinagarind Hospital, Faculty of Medicine and Faculty of Dentistry, Khon Kaen University. The 123 case samples were collected during the 3 months of April-June 2012. The research instrument was a form for general data record and follow-up data record and then the data were analyzed by statistic and percentage. From the 123 cases of the 4-5 years old patients with cleft lip and cleft palate who received treatment at Tawanchai Center Srinagarind Hospital, it was found that 120 cases or 97.56 percent had an operation, 20 cases (16.26 percent) were found where patients came from Khon Kaen Province, 10 cases of each male and female. For this treatment, the majority (108 cases) used government insurance cards. The patients with cleft lip and cleft palate were most common and found to be 74 cases consisted of 44 male and 30 female. The diagnosis and follow-up of cleft lip and cleft palate patients were classified into 18 age ranges, with a total of 2,269 follow-up visits. The most common follow-up was for the 2-3 year old patients, which consisted of 410 times or 18.07 percent which consisted of 220 male and 190 female. Regarding the age range of the patients for the first diagnosis, the highest amount was 38 cases or 30.89 percent

  4. Comprehensive Orthodontic Treatment of Adult Patient with Cleft Lip and Palate

    PubMed Central

    Leiva Villagra, Noemí; Muñoz Domon, Miguel; Véliz Méndez, Sebastian

    2014-01-01

    The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy). Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable. PMID:25544903

  5. Comprehensive orthodontic treatment of adult patient with cleft lip and palate.

    PubMed

    Leiva Villagra, Noemí; Muñoz Domon, Miguel; Véliz Méndez, Sebastian

    2014-01-01

    The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy). Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable.

  6. Comparison of the Pharyngeal Airway Volume between Non-Syndromic Unilateral Cleft Palate and Normal Individuals Using Cone Beam Computed Tomography

    PubMed Central

    Shahidi, Shoaleh; Momeni Danaie, Shahla; Omidi, Mahsa

    2016-01-01

    Statement of the Problem: Individuals with cleft lip and cleft palate mostly have airway problems. Introduction of cone beam computed tomography (CBCT) and imaging software has provided the opportunity for a more precisely evaluating 3D volume of the airway. Purpose: The purpose of this study was to analyze and compare 3D the pharyngeal airway volumes of cleft palate patients with normal individuals using CBCT. Materials and Method: 30 complete cleft palate patients were selected from the Department of Orthodontics; Dental University (Shiraz, Iran) who had CBCT scans of the head. The control group included 30 individuals with Class I angle occlusion who were matched for age and gender with the experimental group. ITK-SNAP 2.4.0 PC software was used to build 3D models of the airways for the subjects and measuring airway volumes. The statistical analyses were performed using SPSS software (version 19). Mann-Whitney test was adopted with p< 0.05 as statistical significance. Results: The average volume of the pharyngeal airway of cleft group was 18.6 cm3, with mean volumes of 6.8 cm3 for the superior component and 11.3 cm3 for the inferior component. The total and superior airway volume of cleft group were significantly lower than non-cleft groups (p= 0.008, p= 0.00, respectively) but the inferior airway volumes were not significantly different between the cleft and non-cleft groups. There was a significant and positive correlation between superior airway volume and inferior airway volume in cleft palate patients (r=+0.786, p< 0.001) and control group (r=+0.575, p= 0.001). Conclusion: 3D analysis showed that the nasal and total airway was restricted in individuals with cleft palate but the inferior airway was not compromised in these individuals. This would be a crucial data to be considered for surgeons during surgical planning. PMID:27840840

  7. Maternal effects in human cleft lip and palate.

    PubMed Central

    Bingle, G J; Niswander, J D

    1977-01-01

    To look for a persistent maternal effect of CL(P) and CP, 8,000 pedigrees were screened for half sibships, and data were pooled from 16 investigators. After excluding known genetic or cytogenetic diagnoses from the probands with facial clefts, a recurrence risk of .011 was obtained for CL(P) based upon 342 maternal half sibs. This was nearly identical to the risk of .014 based upon 210 paternal half sibs. CP proband frequencies of .004 for maternal half sibs and .009 for the paternal counterparts were also found. The lack of significant maternal effects in this data supports previously reported data from twin studies and from interracial crosses from Hawaii. The lack of maternal effect in human CL(P) and CP is in contrast to genetic data on clefting in mice. PMID:930925

  8. [Orofacial closure defects: cleft lip and palate. A literature review].

    PubMed

    Díaz Casado, G H; Díaz Grávalos, G J

    2013-01-01

    Orofacial clefts are a common problem that can lead to significant healthcare use and costs, as well as suffering on the part of the affected individuals and families. There are several theories explaining their origin, but some of the findings are inconsistent. The most accepted theories involve a major genetic basis that could be modified by the presence of external agents. Understanding the underlying causes could help to prevent its occurrence, an area in which the family physician can play an important role.

  9. Spectral Analysis of Word-Initial Alveolar and Velar Plosives Produced by Iranian Children with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Eshghi, Marziye; Zajac, David J.; Bijankhan, Mahmood; Shirazi, Mohsen

    2013-01-01

    Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with…

  10. 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.

  11. The Impact of Early Infant Jaw-Orthopaedics on Early Speech Production in Toddlers with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP…

  12. 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.

  13. The Impact of Early Infant Jaw-Orthopaedics on Early Speech Production in Toddlers with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP…

  14. Spectral Analysis of Word-Initial Alveolar and Velar Plosives Produced by Iranian Children with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Eshghi, Marziye; Zajac, David J.; Bijankhan, Mahmood; Shirazi, Mohsen

    2013-01-01

    Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with…

  15. Dental treatment need and dental general anesthetics among preschool-age children with cleft lip and palate in northern Finland.

    PubMed

    Lehtonen, Ville; Sándor, George K; Ylikontiola, Leena P; Koskinen, Sari; Pesonen, Paula; Harila, Virpi; Anttonen, Vuokko

    2015-08-01

    Cleft lip and palate incidence is high in northern Finland. This study aimed to investigate the proportion of children in need of restorative dental treatment among cleft lip and palate patients in northern Finland, as well as their need for dental treatment under general anesthesia. The records of 183 cleft lip and palate patients, treated in Oulu University Hospital from 1997 to 2013, were reviewed. Data on dental caries were analyzed in association with cleft type, considering also the presence of syndromes. The frequency of dental general anesthetic (DGA) use, and of treatments, were also analyzed. Dental treatment need was most frequently observed, in this rather limited study population, in patients with the most severe deformities, namely bilateral cleft lip and palate, of whom 60% had caries. Among the study population, 11.5% (n = 21) had a syndrome. Of those, 57.1% had dental caries at the age of 3 or 6 yr, and only four could be treated without a DGA. Dental treatment under general anesthesia was performed in 14.8% of cleft patients without a syndrome, but in 38.1% of those with a syndrome. General anaesthesia is required for the provision of dental care more often in cleft (17.5%) than in non-cleft (0.2%) patients, and especially for those with a syndrome. © 2015 Eur J Oral Sci.

  16. Tooth ankylosis in deciduous teeth of children with cleft lip and/or palate.

    PubMed

    Aranha, Andreza Maria Fábio; Duque, Cristiane; Silva, Juliana Yassue Barbosa da; Carrara, Cleide Felício Carvalho de; Costa, Beatriz; Gomide, Marcia Ribeiro

    2004-01-01

    The present study aimed at evaluating the prevalence of tooth ankylosis in deciduous molars of Caucasian children with cleft lip and/or palate aged 5 to 12 years, of both genders. A total of 330 patients seen at the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo for routine treatment were clinically evaluated. The prevalence of ankylosis was analyzed in relation to gender, age range (5-7, 8-10, 11-12 years), type of cleft, affected tooth and arch. The total group showed a prevalence of 18%, with no statistical difference between genders and among types of cleft; ankylosis was more often in the mandibular arch, lower first molars and among children in the age ranges 8-10 and 11-12 years. The results agreed with those observed in the related literature for patients without clefts, pointing out the absence of influence of the cleft on the prevalence of ankylosis. This reinforces the importance of early diagnosis of this anomaly and of the treatment of choice, which are similar in patients with or without clefts.

  17. An innovative technique to restore velopharyngeal incompetency for a patient with cleft lip and palate

    PubMed Central

    Ahmad, Manawar; Dhanasekar, B; Aparna, I N; Naim, Hina

    2013-01-01

    Treatment of cleft lip and palate patients often demand well-coordinated work of medical and dental specialists. In spite of surgical and orthodontic therapy, prosthetic rehabilitation is always necessary because of partial anadontia, maxillary hypoplasia and velopharyngeal dysfuction. The aim of the prosthetic treatment is to improve aesthetics, function and speech of the patients; however, factors like underdeveloped and collapsed maxillary arch, retrognathic maxilla and reduced alveolar ridge height make the treatment challenging. This clinical report describes an interdisciplinary approach for the management of cleft lip and palate patient associated with mutilated dentition. The prosthetic phase began along with orthodontic treatment to achieve sufficient space distribution, which was restored with fixed dental prosthesis to stabilise the achieved status of occlusion. Palatal lift prosthesis was fabricated to restore the velopharyngeal incompetency with an innovative technique using ‘standard orthodontic expansion screw’ to eliminate hypernasality, decrease intelligibility of speech and to aid in deglutition. PMID:23821635

  18. Telescopic crowns in adult case with lip and palate cleft. Update on the etiology and management.

    PubMed

    Mañes Ferrer, José Félix; Martínez González, Amparo; Oteiza Galdón, Begoña; Bouazza Juanes, Kheira; Benet Iranzo, Francisco; Candel Tomás, Ana

    2006-07-01

    Lip and palatal clefts are among the most important congenital craniofacial malformations to be taken into account in general dental practice, due to their high incidence and important repercussions upon the oral cavity. The underlying causes are genetic and fundamentally environmental, and the disorders manifest as early as in the embryonic period. Males are predominantly affected, with a 7:3 ratio versus females. Our patient, a 20-year-old male, presented the most common association, i.e., total unilateral hare lip with palatal cleft. A description is provided of the treatment for his dental problem, together with an update on the etiology and management of adults with malformations of this kind.

  19. An innovative technique to restore velopharyngeal incompetency for a patient with cleft lip and palate.

    PubMed

    Ahmad, Manawar; Dhanasekar, B; Aparna, I N; Naim, Hina

    2013-07-02

    Treatment of cleft lip and palate patients often demand well-coordinated work of medical and dental specialists. In spite of surgical and orthodontic therapy, prosthetic rehabilitation is always necessary because of partial anadontia, maxillary hypoplasia and velopharyngeal dysfuction. The aim of the prosthetic treatment is to improve aesthetics, function and speech of the patients; however, factors like underdeveloped and collapsed maxillary arch, retrognathic maxilla and reduced alveolar ridge height make the treatment challenging. This clinical report describes an interdisciplinary approach for the management of cleft lip and palate patient associated with mutilated dentition. The prosthetic phase began along with orthodontic treatment to achieve sufficient space distribution, which was restored with fixed dental prosthesis to stabilise the achieved status of occlusion. Palatal lift prosthesis was fabricated to restore the velopharyngeal incompetency with an innovative technique using 'standard orthodontic expansion screw' to eliminate hypernasality, decrease intelligibility of speech and to aid in deglutition.

  20. An unusual type of sucking habit in a patient with cleft lip and palate.

    PubMed

    Satyaprasad, Savitha

    2009-01-01

    Digit sucking, a form of non-nutritive sucking, is a habit of concern to specialist in various fields such as psychiatrist, psychologist, pediatricians, pediatric dentists, orthodontist, speech pathologist and plastic surgeon. The habits have harmful unbalanced pressures to be born by the immature highly malleable alveolar ridges. Sucking behaviors have long been recognized to affect occlusion and dental arch characteristics. As early as 1870s, Campbell and Chandler recognized that prolonged finger or thumb sucking habits had deleterious effects on certain occlusal traits including anterior open bite, increased over jet and class II canine and molar relationships. However, little is known about digit sucking habit and its effect in a cleft lip and palate child as there is no literature till now reported on the digit sucking in a cleft lip patient.

  1. Embryonic rationale for the primary correction of classical congenital clefts of the lip and palate.

    PubMed Central

    Millard, D. R.

    1994-01-01

    Primary correction of congenital clefts of the lip and palate should be designed to carry the interrupted embryonic process to normal completion. This is best accomplished by maxillary alignment with presurgical orthodontics, stabilisation of the maxillary alignment, obliteration of the alveolar cleft and construction of the nasal floor with periosteoplasty. This allows early construction of the lip by rotation and advancement and correction of the nose with columella lengthening, alar cartilage positioning and alar base cinching. This can be accomplished before school age. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 PMID:8017808

  2. [Allelic polymorphism of MTHFR, MTR and MTRR genes in patients with cleft lip and/or palate and their mothers].

    PubMed

    Chorna, L B; Akopian, H R; Makukh, H V; Fedoryk, I M

    2011-01-01

    The frequency of common MTHFR, MTR and MTRR genes polymorphisms was evaluated among patients with non-syndromic cleft lip and/or palate (CL/P), their mothers and healthy persons from West-Ukrainian region. MTHFR 677TT genotype was shown to increase more than three-fold risk of CL/P and for mothers the risk of having CL/P children may increase two-fold compared with homozygous carriers of MTHFR 677CC genotype (OR = 3.3, OR = 1.92, respectively). The heterozygous MTR 2756AG genotype was associated with 1.5-fold increased risk of CL/P compared with the AA genotype (OR = 1.48). The heterozygous genotype MTRR 66AG was associated with the 5.56-fold increased CL/P risk (OR = 5.56) and for mothers with 2.6-fold increased risk of delivering a CL/P offspring (OR = 2.6). The results showed that MTRR 66G allele is more prevalent than MTRR 66A (wild type) and the MTRR 66GG genotype frequency was significantly lower among CL/P patients and their mothers than in control group among Western Ukrainian inhabitants.

  3. [Incidence of cleft lip and palate in the General Hospital Dr. Aurelio Valdivieso of Oaxaca, México, between 2008 and 2010].

    PubMed

    Contreras-Acevedo, Flor de María; Medina-Solís, Carlo Eduardo; Martínez-Mendoza, Santa Adriana; Pontigo-Loyola, América Patricia; Estrada-Meráz, Herman Adolfo; Escoffié-Ramírez, Mauricio

    2012-01-01

    Cleft lip and/or palate (CL/P) is the most common craniofacial anomaly. to determine the incidence of cleft lip and/or palate (CL/P) in patients born in the Hospital "Dr. Aurelio Valdivieso" in the city of Oaxaca between 2008 and 2010. A retrospective, cross-sectional study on all live births with non-syndromic orofacial cleft was realized. The variables included were CL/P presence, sex, and birth year. Clinical records of CL/P subjects were reviewed and clefts classified according to Kernahan and Stark. Tables were generated to present data. The total number of live births (LB) was 24,043 for the 2008 to 2010 period. In 2008, 9 cases (rate 1.01 per 1,000 LB) were identified: 7 boys and 2 girls. In 2009, there were 4 cases (rate 0.54 per 1,000 LB), 3 boys and 1 girl. In 2010, there were 11 cases (rate 1.42 per 1,000 LB), 7 boys and 4 girls. The total for the period 2008-2010 were 24 cases (rate 1.00 per 1,000 LB), 17 boys and 7 girls. Incidence rate was higher among male than among female. As for the distribution according to Kernahan and Stark classification, there were 4 boys and 3 girls in group "C", 10 boys and 4 girls in group "D", and only 3 boys in group "E"; not a single case in groups "A" and "B". The incidence for the period was 1.00 per 1,000 LB. The CL/P was more frequent in boys for each year included in the study.

  4. Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci

    SciTech Connect

    Chenevix-Trench, G.; Jones, K. Univ. of Queensland ); Green, A.C.; Duffy, D.L.; Martin, N.G. )

    1992-12-01

    The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here the authors extend their original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives ([lambda][sub 1]) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting. 43 refs., 1 fig., 4 tabs.

  5. Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey.

    PubMed

    Marazita, Mary L; Field, L Leigh; Tunçbilek, Gökhan; Cooper, Margaret E; Goldstein, Toby; Gürsu, K Gürler

    2004-04-15

    Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly, with birth prevalence ranging from 1/500 to 1/1,000. A number of genetic loci have shown positive linkage or association results in European Caucasian populations. The purpose of the current study was to assess whether any of those loci have positive results in Turkish Caucasian CL/P families, and to perform a 10 cM genome scan to identify other regions potentially containing cleft susceptibility loci. Eighteen affected individuals with consanguineous parents were identified as part of our on-going studies of orofacial clefts in Ankara, Turkey. Genotyped were 383 genome-scan markers, and 70 additional markers, including markers in six candidate loci or regions on chromosomes 2, 4, 6, 14, 17, and 19 (TGFA, D4S175, F13A1, TGFB3, D17S250, and APOC2) that have been implicated in other studies of families with orofacial clefting. LOD scores (two point and multiple point) and family-based association statistics (TDT) were calculated between each of the markers and CL/P. For the LOD score calculations, an autosomal recessive model was assumed for the inheritance of CL/P. Of the six candidate markers, significant TDT results were obtained with TGFA (P = 0.05). The most statistically significant multipoint results from the linkage genome scan were between putative genes controlling risk of CL/P and regions on chromosomes 4, 10, 12, and 15 (maximum multipoint HLOD's of 1.25, 1.30, 2.73, and 1.28 respectively). These results demonstrate the power of small numbers of families with inbred probands to detect linkage and association. Copyright 2003 Wiley-Liss, Inc.

  6. Nasolabial aesthetics correlates poorly with skeletal symmetry in unilateral cleft lip and palate.

    PubMed

    Urbanova, Wanda; Brudnicki, Andrzej; Strydom, Hardus; Bronkhorst, Ewald M; Katsaros, Christos; Fudalej, Piotr S

    2013-01-01

    To evaluate the correlation between symmetry of the craniofacial skeleton and aesthetics of the nose and upper lip in children with complete unilateral cleft lip and palate (CUCLP). Craniofacial symmetry was evaluated on postero-anterior (PA) cephalograms of 54 children (37 boys and 17 girls; mean age = 11.0 years, SD 1.6) with CUCLP repaired with a one-stage closure (Cleft group). Treated subjects were age- and gender-matched with 54 untreated subjects taken from the University of Michigan Growth Study (Control group). Fourteen coefficients of asymmetry (CAs) were calculated and four angles were measured. Four raters assessed the nasolabial appearance on cropped facial and profile photographs with the 5-grade aesthetic index of Asher-McDade (grade 1 means the most aesthetic and grade 5 the least aesthetical outcome) in the Cleft group only. Independent t-tests were used to evaluate the inter-group differences for CAs. Pearson's correlation coefficients were calculated to examine a relationship between particular components of the aesthetical index and CAs. Multiple regression analyses were carried out to explain the nasolabial aesthetics on the basis of craniofacial symmetry. In the Cleft group, most cephalometric variables demonstrated asymmetry not exceeding 10%. The Cleft and Control groups differed regarding three angular measurements (Se, Ism, and ANS) and 1 CA (Mo-V). Three of the four nasolabial components demonstrated correlation with some cephalometric variables. However, the correlation coefficients were low (range: -0.309 to 0.305). There is a weak correlation between craniofacial skeletal symmetry and aesthetics of the nose and upper lip in children with CUCLP. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  7. Fordyce Happiness Program and Happiness in Mothers of Children with a Cleft Lip and Palate

    PubMed Central

    Hemati, Zeinab; Mosavi Asl, Fatemeh-Sadat; Abbasi, Samira; Ghazavi, Zohre; Kiani, Davood

    2016-01-01

    Introduction: Facial deformities and aesthetic and functional anomalies in children may be a cause of real distress in families. Problems faced by parents in coping with a child’s anomaly can be upsetting and lead parents to exhibit over-severe behavior. The present study was conducted in order to study the effect of happiness program on the happiness of the mothers of children with a cleft lip and palate. Materials and Methods: In this semi-experimental study, 64 mothers of children with a cleft lip and palate enrolled by convenience random sampling were assigned to an intervention or control group based on a simple random sampling. Then, a program of happiness training was implemented consisting of 10 sessions of 2 hours each. A demographic questionnaire and the Oxford Happiness Questionnaire were completed prior to and 2 months after the last session of intervention. The data were analyzed using descriptive and analytical statistics, consisting of a paired t-test, independent t-test and Chi-square test using SPSS version 20. Results: The independent t-test indicated a significant difference in mean happiness score after training between the intervention and control groups (P<0.05). Moreover, the paired t-test indicated a significant difference in mean happiness score between before and after training in the intervention group, although the difference was not statistically significant for the control group (P>0.05). Conclusion: In light of the efficacy of happiness training on the promotion of happiness in the mothers of children with a cleft lip and palate, this model is recommended as a healthcare intervention to decrease stress in mothers following the birth of an infant with a cleft lip and palate. PMID:28008390

  8. A digital approach to photographing and measuring cleft lip and palate dental study casts.

    PubMed

    Goodfellow, Nicky

    2007-06-01

    This paper discusses whether a digital photographic technique can be used to produce a measurably accurate image of a dental cast arch, in order to assist the outcome assessments of cleft lip and palate surgery. It describes the measurement techniques, and discusses the factors affecting reproducibility. The results indicate that measurements which were taken from a digital image, using an on-screen measuring tool, correlated significantly with measurements taken manually from a plaster dental cast arch.

  9. Evaluating the use of octyl-2-cyanoacrylate in unilateral cleft lip repair

    PubMed Central

    Malhotra, Vijaylaxmy; Dayashankara Rao, J. K.; Arya, Varun; Sharma, Shalender; Singh, Sushil; Luthra, Payal

    2016-01-01

    Background: Facial cosmetic results are one of the most concerning issues for the parents who get their children operated for cleft lip. Moreover, the postoperative care of the surgical site, the discomfort associated with the suture removal, and additional visit for suture removal are other reasons which encourages one to use any new technologies that may replace the need for suture placement. In this study, we used octyl-2-cyanoacrylate, a tissue adhesive which offers a viable alternative to traditional techniques without compromising optimal wound closure. Objective: To perform a comprehensive comparison of the outcomes from the use of Dermabond in patients undergoing primary repair of congenital cleft lip ± palate anomalies. Materials and Methods: Twenty patients, in the age group of 3–18 months were treated surgically for unilateral cleft lip deformity using Millard rotation-advancement flap. Pre- and post-operative photographs of the patients were taken at 1 week, 2 week, 1 month, 6 months, and 1 year postoperatively and were evaluated using Vancouver scar scale which was given by Sullivan in 1990. Paired t-test was used for statistical analysis. Results: Increased vascularity (hyperemia) was seen in the 1st and 2nd week in 35% and 30% patients, respectively which gradually reduced to normal in subsequent follow-ups. The scar was flat in 85% of patients in 1st week, and the number decreased to 10% at the end of 1 year. No wound dehiscence was found in any patients. Statistical analysis showed that among all the follow-ups, only the difference between the first and second follow-ups. Comparison of the results of 1 week with all other follow-ups yielded no significant results. Conclusion: Octyl-2-cyanoacrylate can be used for cleft lip closure effectively. The procedure is relatively painless and quick. Added to this are benefits of protection from wound infection since the material is bacteriostatic. PMID:28356686

  10. Ideal treatment protocol for cleft lip and palate patient from mixed to permanent dentition.

    PubMed

    Rocha, Roberto; Ritter, Daltro Enéas; Locks, Arno; de Paula, Leonardo Koerich; Santana, Regis Meller

    2012-04-01

    A girl with an Angle Class III malocclusion, anterior and posterior crossbites, a concave profile, and cleft lip and palate sought orthodontic treatment. She was treated with a multidisciplinary therapeutic protocol including orthodontic and surgical procedures. The proposed objectives of occlusion, normal function, and balanced profile were achieved, and these results remained stable 4 years after the treatment. Copyright © 2012 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  11. Phonological Processes in the Speech of Jordanian Arabic Children with Cleft Lip and/or Palate

    ERIC Educational Resources Information Center

    Al-Tamimi, Feda Y.; Owais, Arwa I.; Khabour, Omar F.; Khamaiseh, Zaidan A.

    2011-01-01

    The controlled and free speech of 15 Jordanian male and female children with cleft lip and/or palate was analyzed to account for the different phonological processes exhibited. Study participants were divided into three main age groups, 4 years 2 months to 4 years 7 months, 5 years 3 months to 5 years 6 months, and 6 years 4 months to 6 years 6…

  12. Sagittal craniofacial morphology in repaired unilateral and bilateral complete cleft lip and palate cases.

    PubMed

    Nandlal, B; Utreja, A; Tewari, A; Chari, P S

    1996-06-01

    Fifty repaired complete cleft lip and palate cases (38 UCLP and 12 BCLP) in the age of 6 to 14 years were evaluated for sagittal craniofacial morphology using lateral cephalograms. A total of twenty three measurements (19 angular and 4 linear) were used in the analysis to represent a comprehensive pattern of dento craniofacial morphology. The results of comparison between UCLP and BCLP revealed differences for only the skeletodental and interincisor sagittal relationship (greater retroclination in BCLP group).

  13. Phonological Processes in the Speech of Jordanian Arabic Children with Cleft Lip and/or Palate

    ERIC Educational Resources Information Center

    Al-Tamimi, Feda Y.; Owais, Arwa I.; Khabour, Omar F.; Khamaiseh, Zaidan A.

    2011-01-01

    The controlled and free speech of 15 Jordanian male and female children with cleft lip and/or palate was analyzed to account for the different phonological processes exhibited. Study participants were divided into three main age groups, 4 years 2 months to 4 years 7 months, 5 years 3 months to 5 years 6 months, and 6 years 4 months to 6 years 6…

  14. [The need for clinical guidelines for the comprehensive management of patients with cleft lip and palate].

    PubMed

    Guerrero-Abello, Paola; Ariza-Araujo, Yoseth; Caycedo-García, Diego J; Pachajoa, Harry

    2016-02-01

    Objective To identify clinical guidelines for the treatment of cleft lip and / or palate in children under one year of age, published in Colombia and internationally. Method A search was conducted in three databases: PubMed, Lilacs and Scielo with the terms "guideline cleft lip and palate", "protocols cleft lip and palate", "guía clínica labio paladar fisurado", "guía de manejo labio paladar fisurado" and "guía labio paladar hendido". In addition to this, we consulted the websites of all pediatric hospitals in Colombia. Results 190 papers were found, of which 96 were not related to the population or focused on treatment, 84 were disciplinary, 8 interdisciplinary and only two were clinical guidelines. Conclusions There are few published guidelines and there is a lack of unified criteria. This gives rise to numerou