Sample records for facial cleft case

  1. Cranio-facial clefts in pre-hispanic America.

    PubMed

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

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

  2. Anatomical variations of the facial nerve in first branchial cleft anomalies.

    PubMed

    Solares, C Arturo; Chan, James; Koltai, Peter J

    2003-03-01

    To review our experience with branchial cleft anomalies, with special attention to their subtypes and anatomical relationship to the facial nerve. Case series. Tertiary care center. Ten patients who underwent resection for anomalies of the first branchial cleft, with at least 1 year of follow-up, were included in the study. The data from all cases were collected in a prospective fashion, including immediate postoperative diagrams. Complete resection of the branchial cleft anomaly was performed in all cases. Wide exposure of the facial nerve was achieved using a modified Blair incision and superficial parotidectomy. Facial nerve monitoring was used in every case. The primary outcome measurements were facial nerve function and incidence of recurrence after resection of the branchial cleft anomaly. Ten patients, 6 females and 4 males,with a mean age of 9 years at presentation, were treated by the senior author (P.J.K.) between 1989 and 2001. The lesions were characterized as sinus tracts (n = 5), fistulous tracts (n = 3), and cysts (n = 2). Seven lesions were medial to the facial nerve, 2 were lateral to the facial nerve, and 1 was between branches of the facial nerve. There were no complications related to facial nerve paresis or paralysis, and none of the patients has had a recurrence. The successful treatment of branchial cleft anomalies requires a complete resection. A safe complete resection requires a full exposure of the facial nerve, as the lesions can be variably associated with the nerve.

  3. Incidence of facial clefts in Cambridge, United Kingdom.

    PubMed

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

    2011-08-01

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

  4. Duplicated facial nerve trunk with a first branchial cleft cyst.

    PubMed

    Hinson, Drew; Poteet, Perry; Bower, Charles

    2014-03-01

    First branchial cleft anomalies are rare and their various anatomical relationships to the facial nerve have been described. We encountered a 15-year-old female with a type II first branchial cleft cyst presenting as a right neck mass that we found during surgical excision to transverse two main facial nerve trunks. To our knowledge, this is the first reported case of a first branchial cleft anomaly in conjunction with a duplicated facial nerve trunk. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

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

    PubMed

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

    2010-10-01

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

  6. Ocular Manifestations of Oblique Facial Clefts

    PubMed Central

    Ortube, Maria Carolina; Dipple, Katrina; Setoguchi, Yoshio; Kawamoto, Henry K.; Demer, Joseph L.

    2014-01-01

    Introduction In the Tessier classification, craniofacial clefts are numbered from 0 to 14 and extend along constant axes through the eyebrows, eyelids, maxilla, nostrils, and the lips. We studied a patient with bilateral cleft 10 associated with ocular abnormalities. Method Clinical report with orbital and cranial computed tomography. Results After pregnancy complicated by oligohydramnios, digoxin, and lisinopril exposure, a boy was born with facial and ocular dysmorphism. Examination at age 26 months showed bilateral epibulbar dermoids, covering half the corneal surface, and unilateral morning glory anomaly of the optic nerve. Ductions of the right eye were normal, but the left eye had severely impaired ductions in all directions, left hypotropia, and esotropia. Under anesthesia, the left eye could not be rotated freely in any direction. Bilateral Tessier cleft number 10 was implicated by the presence of colobomata of the middle third of the upper eyelids and eyebrows. As the cleft continued into the hairline, there was marked anterior scalp alopecia. Computed x-ray tomography showed a left middle cranial fossa arachnoid cyst and calcification of the reflected tendon of the superior oblique muscle, trochlea, and underlying sclera, with downward and lateral globe displacement. Discussion Tessier 10 clefts are very rare and usually associated with encephalocele. Bilateral 10 clefts have not been reported previously. In this case, there was coexisting unilateral morning glory anomaly and arachnoid cyst of the left middle cranial fossa but no encephalocele. Conclusions Bilateral Tessier facial cleft 10 may be associated with alopecia, morning glory anomaly, epibulbar dermoids, arachnoid cyst, and restrictive strabismus. PMID:20856062

  7. Repairing a Facial Cleft by Polyether-Ether-Ketone Implant Combined With Titanium Mesh.

    PubMed

    Deng, Yuan; Tang, Weiwei; Li, Zhengkang

    2018-05-15

    The Tessier Number 4 cleft is one of the rarest, most complex craniofacial anomalies that presents difficulties in surgical treatment. In this article, we report a case of simultaneous facial depression, eye displacement, and medial canthus deformity. In this case, the maxillary bony defect was reconstructed using computer-assisted design computer-assisted manufacturing (CAD-CAM) polyether-ether-ketone (PEEK) material, and the orbital floor defect was repaired with AO prefabricated titanium mesh. Additionally, the medial canthus was modified with canthopexy and a single Z-plasty flap. Owing to its relative rarity and varied clinical presentations, no definitive operative methods have been accepted for Tessier No. 4 facial cleft. This study presents the combination of CAD-CAM manufactured PEEK material and titanium mesh as an alternative approach for reconstructing the bony defect of Tessier No. 4 facial clefts.

  8. Invasive cervical resorption and the oro-facial cleft patient: a review and case series.

    PubMed

    O'Mahony, A; McNamara, C; Ireland, A; Sandy, J; Puryer, J

    2017-05-12

    Introduction Invasive cervical resorption (ICR) has an unknown aetiology, yet it exhibits very aggressive behaviour compared with typical external root resorption, posing a high risk of tooth loss.Aim To investigate the number of patients at the Dublin Cleft Prosthodontic Department with an oro-facial cleft who experienced ICR and to identify any possible aetiological factors.Materials and method A retrospective investigation of all oro-facial cleft patients treated at the Dublin Cleft Prosthodontic Department, St James's Hospital, Dublin. All patients' clinical and radiological records were reviewed. Patients where tooth loss became inevitable due to Class 4 ICR were analysed.Results From 588 oro-facial cleft patients, 14 (2.38%) patients with ICR were identified. Of these eight (57%) were female and six (43%) were male. Mean age at diagnosis was 28 years (range = 16-49 years). Cleft type: six (42.1%) unilateral cleft lip and palate, eight (57.9%) bilateral cleft lip and palate. Seventeen ICR affected teeth in total, with eleven (65%) maxillary central incisors, two (12%) maxillary lateral incisors, four (23%) maxillary canines, and one (7%) central, lateral and canine affected. Some, (N = 10, 71.4%) presented with ICR resulting in immediate tooth loss. Other patients (N = 4, 28.6%) developed ICR during or following prosthodontic treatment at the Cleft Centre. Tooth loss for this cohort, though not immediate, was inevitable. All had undergone fixed orthodontic appliance treatment and twelve had received dento-alveolar bone grafts. A number (N = 7, 50%) had undergone osteotomy, two (14%) had received night guard vital dental whitening and one had a history of trauma.Conclusions ICR, given its aggressive nature and ill-understood aetiology, poses significant treatment challenges. The most severe form of ICR (Class 4) leads inevitably to tooth loss. The slow-moderate progression of ICR may explain the late presentation found in this study, reinforcing the importance

  9. Facial clefts and facial dysplasia: revisiting the classification.

    PubMed

    Mazzola, Riccardo F; Mazzola, Isabella C

    2014-01-01

    Most craniofacial malformations are identified by their appearance. The majority of the classification systems are mainly clinical or anatomical, not related to the different levels of development of the malformation, and underlying pathology is usually not taken into consideration. In 1976, Tessier first emphasized the relationship between soft tissues and the underlying bone stating that "a fissure of the soft tissue corresponds, as a general rule, with a cleft of the bony structure". He introduced a cleft numbering system around the orbit from 0 to 14 depending on its relationship to the zero line (ie, the vertical midline cleft of the face). The classification, easy to understand, became widely accepted because the recording of the malformations was simple and communication between observers facilitated. It represented a great breakthrough in identifying craniofacial malformations, named clefts by him. In the present paper, the embryological-based classification of craniofacial malformations, proposed in 1983 and in 1990 by us, has been revisited. Its aim was to clarify some unanswered questions regarding apparently atypical or bizarre anomalies and to establish as much as possible the moment when this event occurred. In our opinion, this classification system may well integrate the one proposed by Tessier and tries at the same time to find a correlation between clinical observation and morphogenesis.Terminology is important. The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, between the lateronasal and maxillary process (or oro-naso-ocular cleft); between the medionasal and maxillary process (or cleft of the lip); between the maxillary processes (or cleft of the palate); and between the maxillary and mandibular process (or macrostomia).For the other types of defects, derived from alteration of bone production centers, the word dysplasia should be used instead. Facial

  10. Facial profile esthetics in operated children with bilateral cleft lip and palate

    PubMed Central

    Lauris, Rita de Cássia Moura Carvalho; Capelozza, Leopoldino; Calil, Louise Resti; Lauris, José Roberto Pereira; Janson, Guilherme; Garib, Daniela Gamba

    2017-01-01

    ABSTRACT Objective: The aim of this study was to evaluate the facial profile esthetics of rehabilitated children with complete bilateral cleft lip and palate (BCLP), comparing the judgment of professionals related and not related to cleft rehabilitation and laypersons. Methods: Thirty children in the mixed dentition (24 male; 6 female) with a mean age of 7.8 years were evaluated using facial profile photographs by 25 examiners: 5 orthodontists and 5 plastic surgeons with experience in cleft care, 5 orthodontists and 5 plastic surgeons without experience in oral cleft rehabilitation and 5 graduated laymen. Their facial profiles were classified into esthetically unpleasant (grade 1 to 3), esthetically acceptable (grade 4 to 6), and esthetically pleasant (grade 7 to 9). Intraexaminer and interexaminer errors were evaluated using Spearman correlation coefficient and Kendall’s test, respectively. Inter-rater differences were analyzed using Friedman test and Student-Newman-Keuls test for multiple comparisons. Results: Orthodontists dealing with oral clefts rehabilitation considered the majority of the sample as esthetically pleasant. Plastic surgeons of the cleft team and laypersons classified most of the sample as esthetically acceptable. Most of the orthodontists and plastic surgeons not related to cleft care evaluated the facial profile as esthetically unpleasant. The structures associated to unpleasant profiles were the nose, the midface and the upper lip. Conclusions: The facial profile of children with BCLP was classified as esthetically acceptable by laypersons. Professionals related to cleft rehabilitation were more lenient and those not related to cleft care were stricter to facial esthetics than laypersons. PMID:28902248

  11. A Multivariate Analysis of Unilateral Cleft Lip and Palate Facial Skeletal Morphology.

    PubMed

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

    2015-07-01

    Unilateral cleft lip and palate (UCLP) occurs when the maxillary and nasal facial prominences fail to fuse correctly during development, resulting in a palatal cleft and clefted soft and hard tissues of the dentoalveolus. The UCLP deformity may compromise an individual's ability to eat, chew, and speak. In this retrospective cross-sectional study, cone beam computed tomography (CBCT) images of 7-17-year-old individuals born with UCLP (n = 24) and age- and sex-matched controls (n = 24) were assessed. Coordinate values of three-dimensional anatomical landmarks (n = 32) were recorded from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean distance matrix analysis (EDMA). Approximately 40% of morphometric variation is captured by PCOORD axes 1-3, and the negative and positive ends of each axis are associated with specific patterns of morphological differences. Approximately 36% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. Although significant form differences occur across the facial skeleton, strong patterns of morphological differences were localized to the lateral and superioinferior aspects of the nasal aperture, particularly on the clefted side of the face. The UCLP deformity strongly influences facial skeletal morphology of the midface and oronasal facial regions, and to a lesser extent the upper and lower facial skeletons. The pattern of strong morphological differences in the oronasal region combined with differences across the facial complex suggests that craniofacial bones are integrated and covary, despite influences from the congenital cleft.

  12. Genetic Variants in IRF6 and the Risk of Facial Clefts: Single-Marker and Haplotype-Based Analyses in a Population-Based Case-Control Study of Facial Clefts in Norway

    PubMed Central

    Jugessur, Astanand; Rahimov, Fedik; Lie, Rolv T.; Wilcox, Allen J.; Gjessing, Håkon K.; Nilsen, Roy M.; Nguyen, Truc Trung; Murray, Jeffrey C.

    2009-01-01

    Mutations in the gene encoding interferon regulatory factor 6 (IRF6) underlie a common form of syndromic clefting known as Van der Woude syndrome. Lip pits and missing teeth are the only additional features distinguishing the syndrome from isolated clefts. Van der Woude syndrome, therefore, provides an excellent model for studying the isolated forms of clefting. From a population-based case-control study of facial clefts in Norway (1996–2001), we selected 377 cleft lip with or without cleft palate (CL/P), 196 cleft palate only (CPO), and 763 control infant-parent triads for analysis. We genotyped six single nucleotide polymorphisms within the IRF6 locus and estimated the relative risks (RR) conferred on the child by alleles and haplotypes of the child and of the mother. On the whole, there were strong statistical associations with CL/P but not CPO in our data. In single-marker analyses, mothers with a double-dose of the ‘a’-allele at rs4844880 had an increased risk of having a child with CL/P (RR = 1.85, 95% confidence interval: 1.04–3.25; P = 0.036). An RR of 0.38 (95% confidence interval: 0.16–0.92; P = 0.031) was obtained when the child carried a single-dose of the ‘a’-allele at rs2235371 (the p.V274I polymorphism). The P-value for the overall test was <0.001. In haplotype analyses, several of the fetal and maternal haplotype relative risks were statistically significant individually but were not strong enough to show up on the overall test (P = 0.113). Taken together, these findings further support a role for IRF6 variants in clefting of the lip and provide specific risk estimates in a Norwegian population. PMID:18278815

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

    PubMed Central

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

    2015-01-01

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

  14. The Interrelationships between Ratings of Speech and Facial Acceptability in Persons with Cleft Palate.

    ERIC Educational Resources Information Center

    Sinko, Garnet R.; Hedrick, Dona L.

    1982-01-01

    Thirty untrained young adult observers rated the speech and facial acceptablity of 20 speakers with cleft palate. The observers were reliable in rating both speech and facial acceptability. Judgments of facial acceptability were generally more positive, suggesting that speech is generally judged more negatively in speakers with cleft palate.…

  15. A chronicle of Tessier no. 0 and 1 facial cleft and its surgical management.

    PubMed

    Jhamb, Aakarsh; Mohanty, Sujata

    2009-06-01

    Description and successful management of a patient with Tessier no. 0 and 1 facial cleft is being presented. This bizarre coexistence of two of the rare facial clefts in a single patient deserves a place in the cleft database. Appropriate evaluation was done to rule out the presence of median cleft face syndrome. Lip cleft was repaired by straight line technique with staggering at the vermilion border. Nasal cleft was reconstructed by replacing the missing lower lateral cartilage with conchal cartilage via endonasal approach. Satisfactory outcome was achieved for this singular deformity by conforming to the basic tenets of plastic surgery.

  16. 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.

  17. First branchial cleft anomaly, a case for misdiagnosis.

    PubMed

    Lanisnik, Bostjan; Didanovic, Vojko; Cizmarevic, Bogdan

    2004-01-01

    First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

  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. © 2014 American Academy of Forensic Sciences.

  19. Branchial cleft cyst: A case report and review of literature

    PubMed Central

    Chavan, Surekha; Deshmukh, Revati; Karande, Prasad; Ingale, Yeshwant

    2014-01-01

    First branchial cleft anomaly is a rare disease of the head and neck. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. In this article, we present a case of type II first branchial cleft anomaly. A middle-aged woman who had suffered from swelling on lower jaw visited our department with the chief complaint of a swelling. She underwent complete excision of the lesion with preservation of the facial nerve. The patient recovered well and had no recurrence at 1-year of follow up. PMID:24959062

  20. Branchial cleft cyst: A case report and review of literature.

    PubMed

    Chavan, Surekha; Deshmukh, Revati; Karande, Prasad; Ingale, Yeshwant

    2014-01-01

    First branchial cleft anomaly is a rare disease of the head and neck. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. In this article, we present a case of type II first branchial cleft anomaly. A middle-aged woman who had suffered from swelling on lower jaw visited our department with the chief complaint of a swelling. She underwent complete excision of the lesion with preservation of the facial nerve. The patient recovered well and had no recurrence at 1-year of follow up.

  1. Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk.

    PubMed

    Shanske, Alan L

    2012-09-10

    Congenital anomalies may be caused by genetic or environmental factors or a combination of both. Oblique facial clefts are very rare congenital deformities. The occurrence of facial clefts and an extremity anomaly suggests a common underlying cause. Lateral oro-ocular clefts do not occur along normal developmental planes and may be part of the amnion disruption complex sequence. Our objective was to report a case of this very event, which also followed an unusual intrauterine exposure and review the literature on the teratogenic risk of efavirenz. We report a case of amniotic rupture sequence after fetal HIV and antiretroviral exposure. Teratogenic exposure has been rarely reported and never after antiretroviral exposure. By reporting and registering more cases, we will be able to better assess the risks such medications pose to the developing fetus. The publication of a single case report has the potential to contribute to our knowledge of the significance of prenatal exposure to antiretrovirals and other medications for common HIV-associated disorders. It also generates a hypothesis that can be tested with further clinical data, animal models and epidemiologic studies.

  2. Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty.

    PubMed

    Moslerová, Veronika; Dadáková, Martina; Dupej, Ján; Hoffmannova, Eva; Borský, Jiří; Černý, Miloš; Bejda, Přemysl; Kočandrlová, Karolína; Velemínská, Jana

    2018-05-01

    To evaluate facial asymmetry changes in pre-school patients with orofacial clefts after neonatal cheiloplasty and to compare facial asymmetry with age-matched healthy controls. The sample consisted of patients with unilateral cleft lip (UCL), unilateral cleft lip and palate (UCLP), and bilateral cleft lip and palate (BCLP). The patients were divided in two age groups with a mean age of 3 years (n = 51) and 4.5 years (n = 45), respectively, and 78 age-matched individuals as controls. Three-dimensional (3D) facial scans were analyzed using geometric morphometry and multivariate statistics. Geometric morphometry showed positive deviations from perfect symmetry on the right side of the forehead in the intervention groups and the controls. The UCL groups showed the greatest asymmetric nasolabial area on the cleft-side labia and the contralateral nasal tip. The UCLP group showed, moreover, asymmetry in buccal region due to typical maxillar hypoplasia, which was accentuated in the older group. The BCLP groups showed slightly similar but greater asymmetry than the control groups, except for the philtrum region. Asymmetry of each of the cleft groups significantly differed from the controls. Except for the buccal region in the UCLP and BCLP groups, asymmetry did not significantly increase with age. Copyright © 2018 Elsevier B.V. All rights reserved.

  3. Acceptance of Disability by Teenagers with Oral-Facial Clefts

    ERIC Educational Resources Information Center

    Starr, Philip; Heiserman, Kitty

    1977-01-01

    This study ascertains whether the findings of Linkowski and Dunn (1974) were applicable to a sample of teenagers with oral-facial clefts. The following brief description of the nature of this birth defect and the treatment involved will help to explain why these patients are potential candidates for rehabilitation. (Author)

  4. Relation between a first branchial cleft anomaly and the facial nerve.

    PubMed

    Guo, Yu-Xing; Guo, Chuan-Bin

    2012-04-01

    Relations between first branchial cleft anomalies and the facial nerve vary. We reviewed 41 patients' medical records and pathological sections to clarify the relation, and found that those on the right side in young patients, which were Work type II and situated low down, were likely to be deep to the facial nerve. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  5. Diprosopus associated with neural tube defect and facial cleft in the first trimester.

    PubMed

    Bulbul, Y; Drummond, C L; Hillion, Y; Bidat, L; Ville, Y

    2004-01-01

    We report a case of diprosopus presenting with increased nuchal translucency of 5.3 mm at 14 weeks of gestation. Ultrasonographically, the fetus presented with micrognathia, anterior indentation of the cephalic pole, abnormal cerebral hemispheres with a cystic 4th ventricle and angulation of the spine. The fetal karyotype was normal (46,XX). Following termination of pregnancy, postmortem examination established the diagnosis of diprosopus tetraophthalmus with facial cleft of the 2 faces. Copyright 2004 S. Karger AG, Basel

  6. Team approach concept in management of oro-facial clefts: a survey of Nigerian practitioners

    PubMed Central

    Akinmoladun, Victor I; Obimakinde, Obitade S

    2009-01-01

    Background Cleft palate craniofacial teams have evolved across the globe in the last 20 years in compliance with the interdisciplinary concept of management of oro-facial clefts. An interdisciplinary care allows a coordinated treatment protocol for the patient. The objective of this study was to evaluate oro-facial cleft care in Nigeria with particular emphasis on the compliance of the practitioners to the team approach concept. Methods A snapshot survey was conducted among specialists that attended the Pan African Congress on Cleft Lip and Palate, at the International Institute of Tropical Agriculture, Nigeria in February 2007. Result Sixty three respondents successfully completed and returned the questionnaire for analysis. Mean age of respondents was 43.5 years and the range was 38–62 years. Male to female ratio was 2.7:1. Oral and Maxillofacial Surgeons and Plastic Surgeons constituted the majority of respondents (38.1% and 22.2%) respectively. Only 47.6% (n = 30) of the specialists belonged to cleft teams. Majority of Oral and Maxillofacial Surgeons and Plastic Surgeons belonged to cleft teams (70% and 63.3% respectively) while speech pathologists and orthodontists were less represented (20% and 36.7% respectively) in teams. Conclusion Findings from this study suggests that interdisciplinary care for the cleft patient does not appear to have been fully embraced in Nigeria. This may be a result of several reasons ranging from non availability of the requisite specialists, the relatively young age of cleft care practice in this part of the world to the poor state of infrastructure. PMID:19426559

  7. Team approach concept in management of oro-facial clefts: a survey of Nigerian practitioners.

    PubMed

    Akinmoladun, Victor I; Obimakinde, Obitade S

    2009-05-10

    Cleft palate craniofacial teams have evolved across the globe in the last 20 years in compliance with the interdisciplinary concept of management of oro-facial clefts. An interdisciplinary care allows a coordinated treatment protocol for the patient. The objective of this study was to evaluate oro-facial cleft care in Nigeria with particular emphasis on the compliance of the practitioners to the team approach concept. A snapshot survey was conducted among specialists that attended the Pan African Congress on Cleft Lip and Palate, at the International Institute of Tropical Agriculture, Nigeria in February 2007. Sixty three respondents successfully completed and returned the questionnaire for analysis. Mean age of respondents was 43.5 years and the range was 38-62 years.Male to female ratio was 2.7:1. Oral and Maxillofacial Surgeons and Plastic Surgeons constituted the majority of respondents (38.1% and 22.2%) respectively. Only 47.6% (n = 30) of the specialists belonged to cleft teams. Majority of Oral and Maxillofacial Surgeons and Plastic Surgeons belonged to cleft teams (70% and 63.3% respectively) while speech pathologists and orthodontists were less represented (20% and 36.7% respectively) in teams. Findings from this study suggests that interdisciplinary care for the cleft patient does not appear to have been fully embraced in Nigeria. This may be a result of several reasons ranging from non availability of the requisite specialists, the relatively young age of cleft care practice in this part of the world to the poor state of infrastructure.

  8. Analysis of primary gingivoperiosteoplasty in alveolar cleft repair. Part I: Facial growth.

    PubMed

    Henkel, K O; Gundlach, K K

    1997-10-01

    The primary gingivoperiosteoplasty by Millard consists of presurgical active orthognathic treatment ('Latham device') of the alveolar margins at the age of 3 months and of surgical closure of the alveolar cleft with local gingivoperiosteal flaps at the age of 5 months. The aim of this investigation was to analyse the facial growth following this treatment. The following material was studied: lateral head X-rays and plaster casts from 146 patients with unilateral (UCLP) and bilateral (BCLP) clefts of lip and palate from birth to 16 years of age. Ninety-one of these patients formed the control group, who received neither gingivoperiosteoplasty nor pre-surgical active orthognathic treatment. The same surgeon and orthodontist treated all 146 patients. A three-dimensional growth disturbance after gingivoperiosteoplasty was observed: 42% patients with UCLP and 40% patients with BCLP had an 'open bite' following closure of the alveolar cleft (control group 5%/10%). The length of the upper jaw in patients who underwent gingivoperiosteoplasty was shorter than in the control group. The frequency of posterior cross bite was also higher in the gingivoperiosteoplasty group. These results demonstrate that treatment with a 'Latham device' disturbs facial growth. Therefore, this treatment should be abandoned.

  9. First branchial cleft anomalies in children: Experience with 30 cases.

    PubMed

    Li, Wanpeng; Zhao, Liming; Xu, Hongming; Li, Xiaoyan

    2017-07-01

    First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential.

  10. First branchial cleft anomalies in children: Experience with 30 cases

    PubMed Central

    Li, Wanpeng; Zhao, Liming; Xu, Hongming; Li, Xiaoyan

    2017-01-01

    First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential. PMID:28672934

  11. [Relationship between Work Ⅱ type of congenital first branchial cleft anomaly and facial nerve and surgical strategies].

    PubMed

    Zhang, B; Chen, L S; Huang, S L; Liang, L; Gong, X X; Wu, P N; Zhang, S Y; Luo, X N; Zhan, J D; Sheng, X L; Lu, Z M

    2017-10-07

    Objective: To investigate the relationship between Work Ⅱ type of congenital first branchial cleft anomaly (CFBCA) and facial nerve and discuss surgical strategies. Methods: Retrospective analysis of 37 patients with CFBCA who were treated from May 2005 to September 2016. Among 37 cases with CFBCA, 12 males and 25 females; 24 in the left and 13 in the right; the age at diagnosis was from 1 to 76 ( years, with a median age of 20, 24 cases with age of 18 years or less and 13 with age more than 18 years; duration of disease ranged from 1 to 10 years (median of 6 years); 4 cases were recurren after fistula resection. According to the classification of Olsen, all 37 cases were non-cyst (sinus or fistula). External fistula located over the mandibular angle in 28 (75.7%) cases and below the angle in 9 (24.3%) cases. Results: Surgeries were performed successfully in all the 37 cases. It was found that lesions located at anterior of the facial nerve in 13 (35.1%) cases, coursed between the branches in 3 cases (8.1%), and lied in the deep of the facial nerve in 21 (56.8%) cases. CFBCA in female with external fistula below mandibular angle and membranous band was more likely to lie deep of the facial nerve than in male with external fistula over the mandibular angle but without myringeal web. Conclusions: CFBCA in female patients with a external fistula located below the mandibular angle, non-cyst of Olsen or a myringeal web is more likely to lie deep of the facial nerve. Surgeons should particularly take care of the protection of facial nerve in these patients, if necessary, facial nerve monitoring technology can be used during surgery to complete resection of lesions.

  12. Three-dimensional facial anthropometry of unilateral cleft lip infants with a structured light scanning system.

    PubMed

    Li, Guanghui; Wei, Jianhua; Wang, Xi; Wu, Guofeng; Ma, Dandan; Wang, Bo; Liu, Yanpu; Feng, Xinghua

    2013-08-01

    Cleft lip in the presence or absence of a cleft palate is a major public health problem. However, few studies have been published concerning the soft-tissue morphology of cleft lip infants. Currently, obtaining reliable three-dimensional (3D) surface models of infants remains a challenge. The aim of this study was to investigate a new way of capturing 3D images of cleft lip infants using a structured light scanning system. In addition, the accuracy and precision of the acquired facial 3D data were validated and compared with direct measurements. Ten unilateral cleft lip patients were enrolled in the study. Briefly, 3D facial images of the patients were acquired using a 3D scanner device before and after the surgery. Fourteen items were measured by direct anthropometry and 3D image software. The accuracy and precision of the 3D system were assessed by comparative analysis. The anthropometric data obtained using the 3D method were in agreement with the direct anthropometry measurements. All data calculated by the software were 'highly reliable' or 'reliable', as defined in the literature. The localisation of four landmarks was not consistent in repeated experiments of inter-observer reliability in preoperative images (P<0.05), while the intra-observer reliability in both pre- and postoperative images was good (P>0.05). The structured light scanning system is proven to be a non-invasive, accurate and precise method in cleft lip anthropometry. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  13. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    PubMed

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  14. Psychological status as a function of residual scarring and facial asymmetry after surgical repair of cleft lip and palate.

    PubMed

    Millar, Keith; Bell, Aileen; Bowman, Adrian; Brown, Denise; Lo, Tsz-Wai; Siebert, Paul; Simmons, David; Ayoub, Ashraf

    2013-03-01

    Objective : Objective measure of scarring and three-dimensional (3D) facial asymmetry after surgical correction of unilateral cleft lip (UCL) and unilateral cleft lip (UCLP). It was hypothesized that the degree of scarring or asymmetry would be correlated with poorer psychological function. Design : In a cross-sectional design, children underwent 3D imaging of the face and completed standardized assessments of self-esteem, depression, and state and trait anxiety. Parents rated children's adjustment with a standard scale. Setting : Glasgow Dental School, School of Medicine, College of Medical, Veterinary and Life Sciences. Patients : Fifty-one children aged 10 years with UCLP and 43 with UCL were recruited from the cohort treated with the surgical protocol of the CLEFTSIS managed clinical network in Scotland. Methods : Objective assessment to determine the luminance and redness of the scar and facial asymmetry. Depression, anxiety, and a self-esteem assessment battery were used for the psychological analysis. Results : Cleft cases showed superior psychological adjustment when compared with normative data. Prevalence of depression matched the population norm. The visibility of the scar (luminance ratio) was significantly correlated with lower self-esteem and higher trait anxiety in UCLP children (P  =  .004). Similar but nonsignificant trends were seen in the UCL group. Parental ratings of poorer adjustment also correlated with greater luminance of the scar. Conclusions : The objectively defined degree of postoperative cleft scarring was associated with subclinical symptoms of anxiety, depression, and low self-esteem.

  15. Quantitative Anthropometric Measures of Facial Appearance of Healthy Hispanic/Latino White Children: Establishing Reference Data for Care of Cleft Lip With or Without Cleft Palate

    NASA Astrophysics Data System (ADS)

    Lee, Juhun; Ku, Brian; Combs, Patrick D.; Da Silveira, Adriana. C.; Markey, Mia K.

    2017-06-01

    Cleft lip with or without cleft palate (CL ± P) is one of the most common congenital facial deformities worldwide. To minimize negative social consequences of CL ± P, reconstructive surgery is conducted to modify the face to a more normal appearance. Each race/ethnic group requires its own facial norm data, yet there are no existing facial norm data for Hispanic/Latino White children. The objective of this paper is to identify measures of facial appearance relevant for planning reconstructive surgery for CL ± P of Hispanic/Latino White children. Quantitative analysis was conducted on 3D facial images of 82 (41 girls, 41 boys) healthy Hispanic/Latino White children whose ages ranged from 7 to 12 years. Twenty-eight facial anthropometric features related to CL ± P (mainly in the nasal and mouth area) were measured from 3D facial images. In addition, facial aesthetic ratings were obtained from 16 non-clinical observers for the same 3D facial images using a 7-point Likert scale. Pearson correlation analysis was conducted to find features that were correlated with the panel ratings of observers. Boys with a longer face and nose, or thicker upper and lower lips are considered more attractive than others while girls with a less curved middle face contour are considered more attractive than others. Associated facial landmarks for these features are primary focus areas for reconstructive surgery for CL ± P. This study identified anthropometric measures of facial features of Hispanic/Latino White children that are pertinent to CL ± P and which correlate with the panel attractiveness ratings.

  16. Siamese twins with craniofacial duplication and bilateral cleft lip/palate in a ceramic representation of the Chimú culture (Peru): a comparative analysis with a current case.

    PubMed

    Pachajoa, Harry; Hernandez-Amaris, Maria F; Porras-Hurtado, Gloria Liliana; Rodriguez, Carlos A

    2014-06-01

    Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft.

  17. Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia.

    PubMed

    Bakker, Merel; Pace, Margherita; de Jong-Pleij, Els; Birnie, Erwin; Kagan, Karl-Oliver; Bilardo, Caterina M

    2018-01-01

    To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses. All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements. Feasibility was the highest for the NBL (74.3-79.7%) and the MNM angle (75.7-79.05%). Correlation was good for the NBL, the PNT, and the MNM angle (intraclass correlation coefficient 0.706-0.835). Mean difference between operators was the lowest for the PNT and PFSR (0.03-0.08). Measurements in abnormal fetuses showed that the majority of trisomy 21 fetuses had either an absent nasal bone or a shorter NBL. The PNT and PNT/NBL ratio were above the 97.5th centile in one third of the cases. Fetuses with facial clefts or micrognathia showed on average a large MNM angle (multiple of the median 0.96-5.15). First-trimester facial markers are feasible. The PNT and PNT/NBL ratio were increased in one third of the trisomic fetuses, and the MNM angle in the majority of fetuses with micrognathia and facial clefts. © 2016 S. Karger AG, Basel.

  18. Three-dimensional facial analysis of Chinese children with repaired unilateral cleft lip and palate

    NASA Astrophysics Data System (ADS)

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-08-01

    We analyzed the facial features of Chinese children with repaired unilateral cleft lip and palate (UCLP) and compared them with a normal control group using a three-dimensional (3D) stereophotogrammetry camera. This cross-sectional study examined 3D measurements of the facial surfaces of 20 Chinese children with repaired UCLP and 40 unaffected Chinese children aged 7 to 12 years old, which were captured using the VECTRA 3D five-pod photosystem and analyzed using Mirror software. Twenty-five variables and two ratios were compared between both groups using independent t-test. Intra- and inter-observer reliability was determined using ten randomly selected images and analyzed using intra-class correlation coefficient test (ICC). The level of significance was set at p < 0.0018. Intra- and inter-observers’ reliability was considered fair to excellent with an ICC value ranging from 0.54 to 0.99. Statistically significant differences (p < 0.0018) were found mainly in the nasolabial region. The cleft group exhibited wider alar base root width, flattened nose and broader nostril floor width on the cleft side. They tended to have shorter upper lip length and thinner upper vermillion thickness. Faces of Chinese children with repaired UCLP displayed meaningful differences when compared to the normal group especially in the nasolabial regions.

  19. Complete Midline Cleft of Lower Lip, Mandible, Tongue, Floor of Mouth with Neck Contracture: A Case Report and Review of Literature

    PubMed Central

    Rao, Anantheswar Y. N.

    2015-01-01

    Midline cleft of the lower lip and mandible is an extremely rare condition. Since 1819, when the first case was reported by Couronne, fewer than 80 cases have been described in the world literature so far. The cleft has also been described as facial cleft no. 30 by Paul Tessier. The condition varies in severity from a mild variety in which there is a submucous cleft and notching in the lower lip to a severe variety, involving the tongue, floor of the mouth, mandible, absent hyoid, atrophic neck muscles, and sternum. In this case report, a female child having complete midline cleft of the lower lip and mandible, with bifid tongue stuck to the floor of the mouth, absent hyoid bone and flexion contracture band extending from the confluence of the tip of the tongue, floor of the mouth, cleft mandible to the manubrium sterni is described, with special emphasis on surgical planning and management. PMID:26576245

  20. Determination of facial symmetry in unilateral cleft lip and palate patients from three-dimensional data: technical report and assessment of measurement errors.

    PubMed

    Nkenke, Emeka; Lehner, Bernhard; Kramer, Manuel; Haeusler, Gerd; Benz, Stefanie; Schuster, Maria; Neukam, Friedrich W; Vairaktaris, Eleftherios G; Wurm, Jochen

    2006-03-01

    To assess measurement errors of a novel technique for the three-dimensional determination of the degree of facial symmetry in patients suffering from unilateral cleft lip and palate malformations. Technical report, reliability study. Cleft Lip and Palate Center of the University of Erlangen-Nuremberg, Erlangen, Germany. The three-dimensional facial surface data of five 10-year-old unilateral cleft lip and palate patients were subjected to the analysis. Distances, angles, surface areas, and volumes were assessed twice. Calculations were made for method error, intraclass correlation coefficient, and repeatability of the measurements of distances, angles, surface areas, and volumes. The method errors were less than 1 mm for distances and less than 1.5 degrees for angles. The intraclass correlation coefficients showed values greater than .90 for all parameters. The repeatability values were comparable for cleft and noncleft sides. The small method errors, high intraclass correlation coefficients, and comparable repeatability values for cleft and noncleft sides reveal that the new technique is appropriate for clinical use.

  1. Orthognathic surgery in the young cleft patient: preliminary study on subsequent facial growth.

    PubMed

    Wolford, Larry M; Cassano, Daniel Serra; Cottrell, David A; El Deeb, Mohamed; Karras, Spiro C; Goncalves, Joao Roberto

    2008-12-01

    This study evaluated the long-term effects of orthognathic surgery on subsequent growth of the maxillomandibular complex in the young cleft patient. We evaluated 12 young cleft patients (9 male and 3 female patients), with a mean age of 12 years 6 months (range, 9 years 8 months to 15 years 4 months), who underwent Le Fort I osteotomies, with maxillary advancement, expansion, and/or downgrafting, by use of autogenous bone or hydroxyapatite grafts, when indicated, for maxillary stabilization. Five patients had concomitant osteotomies of the mandibular ramus. All patients had presurgical and postsurgical orthodontic treatment to control the occlusion. Radiographs taken at initial evaluation (T1) and presurgery (T2) were compared to establish the facial growth vector before surgery, whereas radiographs taken immediately postsurgery (T3) and at longest follow-up (T4) were used to determine postsurgical growth. Each patient's lateral cephalograms were traced, and 16 landmarks were identified and used to compute 11 measurements describing presurgical and postsurgical growth. Before surgery, all patients had relatively normal growth. After surgery, cephalograms showed statistically significant growth changes from T3 to T4, with the maxillary depth decreasing by -3.3 degrees +/- 1.8 degrees , Sella-nasion-point A by -3.3 degrees +/- 1.8 degrees, and point A-nasion-point B by -3.6 degrees +/- 2.8 degrees. The angulation of the maxillary incisors increased by 9.2 degrees +/- 11.7 degrees. Of 12 patients, 11 showed disproportionate postsurgical jaw growth. Maxillary growth occurred predominantly in a vertical vector with no anteroposterior growth, even though most patients had shown anteroposterior growth before surgery. The distance increased in the linear measurement from nasion to gnathion by 10.3 +/- 7.9 mm. Four of 5 patients operated on during the mixed dentition phase had teeth that erupted through the cleft area. A variable impairment of postoperative growth was seen

  2. 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…

  3. [Surgical correction of cleft palate].

    PubMed

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

    1990-04-01

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

  4. The Facial Growth Pattern and the Amount of Palatal Bone Deficiency Relative to Cleft Size Should Be Considered in Treatment Planning

    PubMed Central

    2016-01-01

    Background: The aim of this study is to determine the best surgical/orthodontic treatment plan for the complete bilateral and unilateral cleft lip and palate patient to achieve all treatment goals of facial aesthetics, speech, dental function, and psychosocial development. Methods: Review of 40 years of serial complete bilateral cleft lip and palate and complete unilateral cleft lip and palate dental casts and photographs from birth to adolescence, with serial cephs starting at 4 years. This was part of a multicenter international 3-dimensional palatal growth study of serial dental casts of patients who developed good speech, occlusion, and facial growth. Results: Nasoalveolar molding and gingivoperiosteoplasty were introduced without proven longitudinal benefits. The procedure bodily retruded the premaxilla, which “telescoped” backward causing synostosis at the premaxillary vomerine suture. The resulting midfacial recessiveness with an anterior dental crossbite can only be corrected by midfacial protraction or a Le Fort I surgery. Conclusions: Staged orthodontic/surgical treatment limiting premaxillary retraction forces to lip adhesion or forces that cause only premaxillary ventroflexion produce the best results. The palatal cleft should be closed between 18 and 24 months when the ratio of the cleft to the palatal size medial to the alveolar ridge is at least 10%. The protruding premaxilla should only be ventroflexed but never bodily retruded. The facial growth pattern and degree of palatal bone deficiency are the main items to be considered in treatment planning. PMID:27579230

  5. Cleft Palate; A Multidiscipline Approach.

    ERIC Educational Resources Information Center

    Stark, Richard B., Ed.

    Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

  6. The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies.

    PubMed

    Ertas, Burak; Gunaydin, Rıza Onder; Unal, Omer Faruk

    2015-04-01

    To share our experience involving seven patients with type II first branchial cleft anomalies (hereafter, type II anomalies), to determine whether the location of the external fistula openings of the anomalies are associated with the location of the facial nerve tract, and elucidate the relationship between the location of the fistula opening and the facial nerve. The medical records of seven patients who underwent surgery from 2005 to 2013 for type II anomalies were retrospectively examined. The relationship between the fistula opening and the facial nerve was evaluated in each patient with respect to whether the fistula opening was superior or inferior to the mandibular angle. All patients underwent partial parotidectomy, facial nerve exposure, and total excision of the mass together with connection of a small cuff of the external auditory canal skin to the fistula tract. The fistula tracts were located medially to the facial nerve in two patients, and both fistulae had openings inferior to the mandibular angle. The fistula tracts were located laterally to the facial nerve in the remaining five patients: one patient had no external opening, one had an opening inferior to the mandibular angle, and the remaining three had openings superior to the mandibular angle. Because type II anomalies are rare, their diagnosis is difficult. Surgery of such lesions is challenging and associated with a high risk due to their proximity to the facial nerve. We believe that the location of the fistula opening may help to identify the relationship between the anomalous lesion and facial nerve. Studies involving larger series of cases are needed to confirm our hypothesis; however, because of the rarity of this specific anomaly, it will not be easy to compile a large number of cases. We believe that our study will encourage further investigation on this subject. Copyright © 2014. Published by Elsevier Ireland Ltd.

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

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

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

    1992-09-01

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

  8. 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.

  9. Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship.

    PubMed

    Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

    2015-01-01

    To evaluate, using cone-beam computed tomography (CBCT), both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP) patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation. The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed. It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively) and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated) side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037). Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation.

  10. Evidence-Based Medicine: Cleft Palate.

    PubMed

    Woo, Albert S

    2017-01-01

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

  11. 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

  12. The occult submucous cleft palate.

    PubMed

    Kaplan, E N

    1975-10-01

    We have studied 41 patients with classic submucous cleft and 32 cases with occult submucous cleft. Both groups have the same anatomic abnormality that leads to velar dysfunction-the insertion of the palate muscles onto the hard palate rather than onto the midline soft palate raphe. However, the occult submucous cleft palate does not have the classic triad of bifid uvula, hard palate bony notch, and furrow in the midline of the soft palate. Characteristic facial features, cephalmetric x-rays, and cine voice studies can help make a presumptive diagnosis of occult submucous cleft palate. Surgical management includes a diagnostic palate exploration to identify muscle configuration followed by levator muscle sling reconstruction, palate pushback, and pharyngeal flap. Excellent speech results are obtained except with patients having palate paresis.

  13. Folate and One-Carbon Metabolism Gene Polymorphisms and Their Associations With Oral Facial Clefts

    PubMed Central

    Boyles, Abee L.; Wilcox, Allen J.; Taylor, Jack A.; Meyer, Klaus; Fredriksen, Åse; Ueland, Per Magne; Drevon, Christian A.; Vollset, Stein Emil; Lie, Rolv Terje

    2008-01-01

    Folate metabolism plays a critical role in embryonic development. Prenatal folate supplementation reduces the risk of neural tube defects and probably oral facial clefts. Previous studies of related metabolic genes have associated polymorphisms in cystathionine-beta-synthase (CBS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) with cleft risk. We explored associations between genes related to one-carbon metabolism and clefts in a Norwegian population-based study that included 362 families with cleft lip with or without cleft palate (CL/P) and 191 families with cleft palate only (CPO). We previously showed a 39% reduction in risk of CL/P with folic acid supplementation in this population. In the present study we genotyped 12 polymorphisms in nine genes related to one-carbon metabolism and looked for associations of clefting risk with fetal polymorphisms, maternal polymorphisms, as well as parent-of-origin effects, using combined likelihood-ratio tests (LRT). We also stratified by maternal periconceptional intake of folic acid (>400 μg) to explore gene-exposure interactions. We found a reduced risk of CL/P with mothers who carried the CBS C699T variant (rs234706); relative risk was 0.94 with one copy of the T allele (95% CI 0.63-1.4) and 0.50 (95% CI 0.26-0.96) with two copies (P = 0.008). We found no evidence of interaction of this variant with folate status. We saw no evidence of risk from the MTHFR C677T variant (rs1801133) either overall or after stratifying by maternal folate intake. No associations were found between any of the polymorphisms and CPO. Genetic variations in the nine metabolic genes examined here do not confer a substantial degree of risk for clefts. Published 2008 Wiley-Liss, Inc.† PMID:18203168

  14. First branchial cleft anomalies: avoiding the misdiagnosis.

    PubMed

    Kumar, Rajeev; Sikka, Kapil; Sagar, Prem; Kakkar, Aanchal; Thakar, Alok

    2013-07-01

    First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.

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

    PubMed Central

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

    2011-01-01

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

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

    PubMed

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

    2011-09-01

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

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

    PubMed

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

    2018-03-01

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

  18. Parent and child ratings of satisfaction with speech and facial appearance in Flemish pre-pubescent boys and girls with unilateral cleft lip and palate.

    PubMed

    Van Lierde, K M; Dhaeseleer, E; Luyten, A; Van De Woestijne, K; Vermeersch, H; Roche, N

    2012-02-01

    The purpose of this controlled study is to determine satisfaction with speech and facial appearance in Flemish pre-pubescent children with unilateral cleft lip and palate. Forty-three subjects with unilateral cleft lip and palate and 43 age and gender matched controls participated in this study. The Cleft Evaluation Profile was used to assess the perceived satisfaction for individual features related to cleft care. Both the cleft palate subjects and their parents were satisfied with the speech and facial appearance. The Pearson χ(2) test revealed significant difference between the cleft palate and the control group regarding hearing, nasal aesthetics and function, and the appearance of the lip. An in depth analysis of well specified speech characteristics revealed that children with clefts and their parents significantly more often reported the presence of an articulation, voice and resonance disorder and experienced /s/ /r/ /t/ and /d/ as the most difficult consonants. To what extent the incorporation of specific motor oriented oral speech techniques regarding the realisation of specific consonants, attention to vocal and ear care, and the recommendation of secondary velopharyngeal surgery, with the incorporation of primary correction of the cleft nose deformity simultaneously with primary lip closure, will aid these patients are future research subjects. Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  19. Orthodontic Treatment Combined with Orthognathic Surgery and Simultaneous Alveolar Bone Graft of a Unilateral Complete Cleft Lip and Palate Patient: A Case Report.

    PubMed

    Pisek, Poonsak; Manosudprasit, Montian; Wangsrimongkol, Tasanee; Jinaporntham, Suthin; Wiwatworakul, Opas

    2015-08-01

    This article aimed to present a case of 22 year-old Thai female with cleft lip and palate who had malocclusion developed from dental problems, skeletal disharmony and unrepaired alveolar cleft. The treatment was orthodontic combined with one-stage surgical correction which corrected skeletal discrepancy and alveolar cleft in single operation. After treatment, the patient had improved in facial esthetics, attaining good occlusal function and continuous maxillary dental arch. This procedure can reduce morbidity, preclude a second hospitalization and the cost of two-stage surgical correction. However this is only an alternative treatment for adult cleft patients who need late alveolar bone graft and orthognathic surgery.

  20. Long-term follow-up of early cleft maxillary distraction.

    PubMed

    Park, Young-Wook; Kwon, Kwang-Jun; Kim, Min-Keun

    2016-12-01

    Most of cleft lip and palate patients have the esthetic and functional problems of midfacial deficiencies due to innate developmental tendency and scar tissues from repeated operations. In these cases, maxillary protraction is required for the harmonious facial esthetics and functional occlusion. A 7-year old boy had been diagnosed as severe maxillary constriction due to unilateral complete cleft lip and palate. The author tried to correct the secondary deformity by early distraction osteogenesis with the aim of avoiding marked psychological impact from peers of elementary school. From 1999 to 2006, repeated treatments, which consisted of Le Fort I osteotomy and face mask distraction, and complementary maxillary protraction using miniplates were performed including orthodontics. But, final facial profile was not satisfactory, which needs compromising surgery. The result of this study suggests that if early distraction treatment is performed before facial skeletal growth is completed, an orthognathic surgery or additional distraction may be needed later. Maxillofacial plastic and reconstructive surgeons should notify this point when they plan early distraction treatment for cleft maxillary deformity.

  1. [Surgical treatment of first branchial cleft anomaly].

    PubMed

    Xiao, Hongjun; Kong, Weijia; Gong, Shusheng; Wang, Jibao; Liu, Shiying; Shi, Hong

    2005-10-01

    To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Twenty-one patients with first branchial cleft anomalies were treated in our department between January 1994 and December 2004, their clinical data were retrospectively analysed. Surgery was performed on all patients. Among them 13 were males and 8 females, ranging in age from 1.5 to 33 years with an average of 15 years. Anatomically, 3 types of first branchial cleft anomalies were identified: fistulas (n = 17), cysts (n = 2), and fistula combined with cyst (n = 2). Before definitive surgery, soma patients (n = 4) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Methylthioninium Chloride was used in almost all cases for tracking the fistulous during operation. Wide exposure is necessary in many cases,and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

  2. Facial Anthropometric Evaluation of Unilateral Cleft Lip and Palate Patients: Infancy Through Adolescence.

    PubMed

    Dehghani, Mahboobe; Jahanbin, Arezoo; Omidkhoda, Maryam; Entezari, Mostafa; Shadkam, Elaheh

    2018-03-01

    Craniofacial anthropometric studies measure the differences in humans' craniofacial dimensions. The aim of this study was to determine facial anthropometric dimensions of newborn to 12-year-old girls with nonsyndromic unilateral cleft lip and palate (UCLP). In this cross-sectional analytical study, data was collected from 65 infant to 12-year old girls with UCLP. Digital frontal and profile facial photographs were transferred to a computer and desired anthropometric landmarks were traced on each image. Fifteen anthropometric parameters were measured which were the angles of facial, nasofacial, nasomental, Z, nasolabial, inclination of nasal base and labial fissure, nasal deviation, mentocervical, facial convexity and also ratios of nasal prominence relative to nasal height, middle to lower facial third, upper lip to lower lip height, columellar length relative to upper lip, and incisal show relative to incisal width. Pearson coefficient and linear regression were used for statistical analysis. Upper lip to lower lip height ratio and angles of nasofacial, nasolabial, and facial convexity decreased with the age of the patients. In contrast, nasomental angle and the ratios of columellar length to upper lip length, middle facial height to lower facial height, and incisal show relative to incisal width increased. Other parameters studied did not appear to have any significant correlation with age. In the girls with UCLP, various craniofacial dimensions have different growth rates with some parts growing slower than others. Some of the parameters studied were significantly correlated with age, thus growth-related curves and equations were obtained and presented.

  3. [Partial facial duplication (a rare diprosopus): Case report and review of the literature].

    PubMed

    Es-Seddiki, A; Rkain, M; Ayyad, A; Nkhili, H; Amrani, R; Benajiba, N

    2015-12-01

    Diprosopus, or partial facial duplication, is a very rare congenital abnormality. It is a rare form of conjoined twins. Partial facial duplication may be symmetric or not and may involve the nose, the maxilla, the mandible, the palate, the tongue and the mouth. A male newborn springing from inbred parents was admitted at his first day of life for facial deformity. He presented with hypertelorism, 2 eyes, a tendency to nose duplication (flatted large nose, 2 columellae, 2 lateral nostrils separated in the midline by a third deformed hole), two mouths and a duplicated maxilla. Laboratory tests were normal. The cranio-facial CT confirmed the maxillary duplication. This type of cranio-facial duplication is a rare entity with about 35 reported cases in the literature. Our patient was similar to a rare case of living diprosopus reported by Stiehm in 1972. Diprosopus is often associated with abnormalities of the gastrointestinal tract, the central nervous system, the cardiovascular and respiratory systems and with a high incidence of cleft lip and palate. Surgical treatment consists in the resection of the duplicated components. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  4. Maternal Consumption of Coffee and Caffeine-containing Beverages and Oral Clefts: A Population-based Case-Control Study in Norway

    PubMed Central

    Wilcox, Allen J.; Lie, Rolv T.; Andersen, Lene F.; Drevon, Christian A.

    2009-01-01

    A large, population-based case-control study of facial clefts was carried out in Norway between 1996 and 2001. The study included 573 cases—377 with cleft lip with or without cleft palate and 196 with cleft palate only—and 763 randomly selected controls. Maternal consumption of coffee and other caffeine-containing beverages in early pregnancy was recorded shortly after birth. Compared with that for no coffee consumption, the adjusted odds ratios for cleft lip with or without cleft palate were 1.39 (95% confidence interval: 1.01, 1.92) for less than 3 cups a day and 1.59 (95% confidence interval: 1.05, 2.39) for 3 cups or more. Coffee consumption was not associated with risk of cleft palate only (for ≥3 cups vs. none, adjusted odds ratio = 0.96, 95% confidence interval: 0.55, 1.67). Tea consumption was associated with a reduced odds ratio of both cleft lip with or without cleft palate and cleft palate only. There was little evidence of an association between caffeine exposure and clefts when all sources of caffeine were considered. Adjustment for known confounding factors in general had minor effects on risk estimates. Still, the authors could not rule out the possibility of uncontrolled confounding by factors associated with the habit of drinking coffee. PMID:19342400

  5. The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft.

    PubMed

    Raveendran, Janani A; Chao, Jerry W; Rogers, Gary F; Boyajian, Michael J

    2018-07-01

    Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.

  6. Tessier 3 cleft with bilateral anophthalmia: case report and surgical treatment.

    PubMed

    Sesenna, Enrico; Anghinoni, Marilena L; Modugno, Alessandra C; Magri, Alice S

    2012-12-01

    Tessier clefts type 3 and 4 are rare. In this paper the authors report on the management of a wide Tessier 3 cleft. There is no standardized protocol or timing of the surgical procedures in this rare disfiguring condition. Generally speaking, the aim is to preserve the function of important anatomical structures (e.g., a seeing eye.) and reconstruct, as best as possible, harmonic facial features. The authors present a "step by step" solution of the malformation pointing out the limitations of the surgical procedures they used and the goals they wanted to obtain. Despite of the uniqueness and the complexity of the pathology, the authors think they obtained reasonable results both in term of function and aesthetics, permitting the patient to be accepted in the social environment. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  7. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    PubMed

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  8. Tessier 3 Cleft in a Pre-Hispanic Anthropomorphic Figurine in El Salvador, Central America.

    PubMed

    Aleman, Ramon Manuel; Martinez, Maria Guadalupe

    2017-03-01

    In 1976, Paul Tessier provided a numerical classification system for rare facial clefts, numbered from 0 to 14. The Tessier 3 cleft is a rare facial cleft extending from the philtrum of the upper lip through the wing of the nostril, and reaches the medial canthus of the eye. The aim of this document was to describe a pre-Hispanic anthropomorphic figurine dating from the classic period (200 A.D.-900 A.D.), which has a Tessier 3 cleft. We also discuss the documented pre-Hispanic beliefs about facial clefts.

  9. Long-term stability of intra-oral maxillary distraction in unilateral cleft lip and palate: a case report.

    PubMed

    Nevzatoğlu, Sirin; Küçükkeleş, Nazan; Güzel, Zeki

    2013-11-01

    This case report presents short and long-term treatment results of a unilateral cleft lip and palate patient treated with a modified intra-oral tooth-bone borne distraction appliance. The chief complaints of a 16 year-old, unilateral cleft lip and palate patient were poor facial aesthetics, crowding and a fistula. Severe maxillary retrognathism was treated via distraction osteogenesis of the maxilla and performed using an intra-oral tooth-bone borne appliance. Treatment continued to completion with a multibracket system. At an eight-year review following the distraction procedure, the short and long-term results were determined cephalometrically. Following the distraction, A-point advanced 7 mm, 2 mm of which relapsed during fixed appliance treatment. At the end of the active treatment, the patient's skeletal and dental Class III relationship improved to Class I, which was preserved at the long-term review. The profile was markedly improved by the distraction osteogenesis. In cases of severe maxillary retrognathism as a result of a cleft lip and palate, maxillary distraction osteogenesis provides a viable alternative to orthognathic surgery.

  10. Structural outcomes in the Cleft Care UK study. Part 2: dento-facial outcomes

    PubMed Central

    Al-Ghatam, R; Jones, T E M; Ireland, A J; Atack, N E; Chawla, O; Deacon, S; Albery, L; Cobb, A R M; Cadogan, J; Leary, S; Waylen, A; Wills, A K; Richard, B; Bella, H; Ness, A R; Sandy, J R

    2015-01-01

    Structured Abstract Objectives To compare facial appearance and dento-alveolar relationship outcomes from the CSAG (1998) and CCUK (2013) studies. Setting and sample population Five-year-olds born with non-syndromic unilateral cleft lip and palate. Those in the original CSAG were treated in a dispersed model of care with low-volume operators. Those in CCUK were treated in a more centralized, high-volume operator model. Materials and methods We compared facial appearance using frontal view photographs (252 CCUK, 239 CSAG) and dental relationships using study models (198 CCUK, 223 CSAG). Facial appearance was scored by a panel of six assessors using a standardized and validated outcome tool. Dento-alveolar relationships were scored by two assessors using the 5-Year-Olds’ Index. Ordinal regression was used to compare results between surveys. Results Excellent or good facial appearance was seen in 36.2% of CCUK compared with 31.9% in CSAG. In CCUK, 21.6% were rated as having poor or very poor facial appearance compared with 27.6% in CSAG. The percentage rated as having excellent or good dento-alveolar relationships was 53.0% in CCUK compared with 29.6% in CSAG. In CCUK, 19.2% were rated as having poor or very poor dento-alveolar relationships compared to 36.3% in CSAG. The odds ratios for improved outcome in CCUK compared to CSAG were 1.43 (95% CI 1.03, 1.97) for facial appearance and 2.29 (95% CI 1.47, 3.55) for dento-alveolar relationships. Conclusions Facial and dento-alveolar outcomes were better in CCUK children compared to those in CSAG. PMID:26567852

  11. [Management and classification of first branchial cleft anomalies].

    PubMed

    Zhong, Zhen; Zhao, Enmin; Liu, Yuhe; Liu, Ping; Wang, Quangui; Xiao, Shuifang

    2013-07-01

    We aimed to identify the different courses of first branchial cleft anomalies and to discuss the management and classification of these anomalies. Twenty-four patients with first branchial cleft anomalies were reviewed. The courses of first branchial cleft anomalies and their corresponding managements were analyzed. Each case was classified according to Olsen's criteria and Works criteria. According to Olsen's criteria, 3 types of first branchial cleft anomalies are identified: cysts (n = 4), sinuses (n = 13), and fistulas (n = 7). The internal opening was in the external auditory meatus in 16 cases. Two fistulas were parallel to the external auditory canal and the Eustachian tube, with the internal openings on the Eustachian tube. Fourteen cases had close relations to the parotid gland and dissection of the facial nerve had to be done in the operation. Temporary weakness of the mandibular branch of facial nerve occurred in 2 cases. Salivary fistula of the parotid gland occurred in one patient, which was managed by pressure dressing for two weeks. Canal stenosis occurred in one patient, who underwent canalplasty after three months. The presence of squamous epithelium was reported in all cases, adnexal skin structures in 6 cases, and cartilage in 14 cases. The specimens of the fistula which extended to the nasopharynx were reported as tracts lined with squamous epithelium (the external part) and ciliated columnar epithelium (the internal part). According to Work's criteria, 9 cases were classified as Type I lesions, 13 cases were classified as Type II lesions, and two special cases could not be classified. The average follow-up was 83 months (ranging from 12 to 152 months). No recurrence was found. First branchial cleft anomalies have high variability in the courses. If a patient is suspected to have first branchial anomalies, the external auditory canal must be examined for the internal opening. CT should be done to understand the extension of the lesion. For cases

  12. Evaluation of Facial Appearance among Patients With Repaired Unilateral Cleft Lip and Palate: Comparison of Patient- and Clinician-Ratings of Satisfaction.

    PubMed

    Thittiwong, Rungkarn; Manosudprasit, Montian; Wangsrimongkol, Tasanee; Kongsomboon, Supaporn; Pitiphat, Waranuch; Chowchuen, Bowornsilp; Uttaravichien, Akasith; Pisek, Poonsak

    2015-08-01

    The objective of this study was to determine the levels of patient-satisfaction on facial and dental appearance compared with clinician ratings. Participants included 61 patients with repaired unilateral cleft lip and palate (UCLP), aged 14-25 years. Raters comprised three cleft team clinicians. A Likert scale was used to assess the levels of satisfaction of the patients themselves and the clinicians. The results revealed that the patients were moderately satisfied with their appearance. Nose was the least satisfactory feature, followed by lip appearance. When compared to the clinician ratings, the patients were less satisfied with their own nose and lip, but more satisfied with teeth. Concerning age, self-assessment did not differ between adolescents and young adults. Females were less likely to be satisfied compared to males, but the difference was not statistically significant. In conclusion, patients with repaired UCLP were moderately satisfied with their facial and dental appearance. Clinician- and patient-opinions were different in some aspects. This study highlights the importance of patient satisfaction as a meaningful treatment outcome assessment, which could lead to an improvement in cleft care to meet the patient expectations.

  13. Facial attractiveness of patients with unilateral cleft lip and palate and of controls assessed by laypersons and professionals.

    PubMed

    Eichenberger, Martina; Staudt, Christine B; Pandis, Nikolaos; Gnoinski, Wanda; Eliades, Theodore

    2014-06-01

    The aim of the study was to identify differences in the aesthetic evaluation of profile and frontal photographs of (1) patients treated for complete left-sided cleft lip and palate and (2) control patients by laypeople and professionals. Left-side profile and frontal photographs of 20 adult patients treated for complete left-sided cleft lip and palate (10 men, 10 women, mean age: 20.5 years) and of 10 control patients with a class I occlusion (five men, five women, mean age: 22.1 years) were included in the study. The post-treatment photographs were evaluated by 15 adult laypeople, 14 orthodontists, and 10 maxillofacial surgeons. Each photograph was judged on a modified visual analogue scale (VA S, 0-10; 0 'very unattractive' to 10 'very attractive'). A four-level mixed model was fitted in which the VA S score was the dependent variable; cases, profession, view, and rater were independent variables. Compared with laypersons, orthodontists gave higher VA S scores (+0.69, 95% confidence interval (CI) [0.53, 0.84]; P < 0.001), followed by surgeons (+0.21, 95% CI [0.03, 0.38], P = 0.02). Controls were given significantly higher scores than patients with clefts for profile and frontal photographs (+1.97, 95% CI [1.60; 2.35], P < 0.001). No significant difference was found between the scores for the frontal and lateral views (P = 0.46). All the different rater panels were less satisfied with the facial aesthetics of patients with clefts compared with that of control patients. Further research should evaluate whether these findings correlate with patients' self-perception and to what extent it affects the patients' psychosocial well-being.

  14. Speech outcome after early repair of cleft soft palate using Furlow technique.

    PubMed

    Abdel-Aziz, Mosaad

    2013-01-01

    The earlier closure of palatal cleft is the better the speech outcome and the less compensatory articulation errors, however dissection on the hard palate may interfere with facial growth. In Furlow palatoplasty, dissection on the hard palate is not needed and surgery is usually limited to the soft palate, so the technique has no deleterious effect on the facial growth. The aim of this study was to assess the efficacy of Furlow palatoplasty technique on the speech of young infants with cleft soft palate. Twenty-one infants with cleft soft palate were included in this study, their ages ranged from 3 to 6 months. Their clefts were repaired using Furlow technique. The patients were followed up for at least 4 years; at the end of the follow up period they were subjected to flexible nasopharyngoscopy to assess the velopharyngeal closure and speech analysis using auditory perceptual assessment. Eighteen cases (85.7%) showed complete velopharyngeal closure, 1 case (4.8%) showed borderline competence, and 2 cases (9.5%) showed borderline incompetence. Normal resonance has been attained in 18 patients (85.7%), and mild hypernasality in 3 patients (14.3%), no patients demonstrated nasal emission of air. Speech therapy was beneficial for cases with residual hypernasality; no cases needed secondary corrective surgery. Furlow palatoplasty at a younger age has favorable speech outcome with no detectable morbidity. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  15. Dandy Walker Syndrome with Tessier 7 Cleft-a Rare Case Report and a Surgical Note on the Use of Vermilion Flap and Lazy W-Plasty.

    PubMed

    Dhupar, Vikas; Kumar, Praveen; Akkara, Francis; Kumar, Ananth

    2012-09-01

    The Dandy-Walker syndrome is a malformation of the brain that involves the mal-development of the cerebellum, associated with a cystic enlargement of this area, and frequently hydrocephalus. This malformation occurs in ~1 in 30,000 babies. It is seen mostly in females. Developmental anomalies like cleft lip, cleft palate, and cardiac malformation, orthopaedic and urinary structural abnormalities may also occur in 30% of the individuals. We report a case of Dandy Walker syndrome with Tessier 7 facial cleft with paramedian cleft palate in a 6 month old child. Surgical methods used to correct this anomaly include commissuroplasty, myoplasty of the orbicularis oris, and closure of the cleft cheek. Authors report a vermilion square flap technique that combines a lower lip mucocutaneous vermilion border flap with a lazy W-plasty to ensure a natural commissure and skin closure.

  16. Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

    PubMed

    van Straten, Cornelia; Butow, Kurt-W

    2013-01-01

    An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program. A total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases). Three different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence

  17. Fiberoptic Intubation Using LMA™ as A Conduit and Cook® Airway Catheter as An Exchanger in A Case of Tessier 7 Facial Cleft Syndrome

    PubMed Central

    Dasgupta, D; Jain, Anand; Baxi, Vaibhavi; Parab, A; Budhakar, A

    2009-01-01

    Summary Any anaesthesiologist handling a paediatric airway must have a detailed understanding of the differences in airway anatomy, signs and symptoms of airway compromise and common paediatric airway abnormalities. In addition to various equipments needed to manage a difficult airway, there should be a clear plan for evaluation, preparation and management of life threatening complications. We share our experience of successfully managing a difficult airway of a 5 year old child with Tessier 7 facial cleft syndrome. We emphasize the importance of preoperative evaluation, preparation and use of various airway adjuncts. PMID:20640130

  18. 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

  19. Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography.

    PubMed

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

    2015-07-01

    Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated. © 2015 Wiley Periodicals, Inc.

  20. 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.…

  1. Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique.

    PubMed

    Schmidt, Richard; Conrad, David; Field, Erin; O'Reilly, Robert

    2015-06-01

    First branchial cleft anomalies are uncommon lesions that often present as periauricular infections. They have high recurrence rates, due in part to scarring secondary to prior infections and their management. These lesions have a close relationship with the facial nerve, and most authors recommend its identification and dissection because of this relationship. Nonetheless, facial nerve palsy has been reported in up to 15% of cases. We describe a novel technique for the management of first branchial cleft anomalies. Such lesions that presented in an infra- or postauricular location were approached via an incision through the cartilage of the pinna, between the tragus and antitragus. This technique affords direct access to the lesion without the need for facial nerve dissection. Six patients were treated. Five had prior surgery, including 3 with previous attempts at excision. There were no complications. The median follow-up was 35 months. One patient developed a recurrence. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  2. Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series.

    PubMed

    Quintanilla-Dieck, Lourdes; Virgin, Frank; Wootten, Chistopher; Goudy, Steven; Penn, Edward

    2016-01-01

    Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential.

  3. Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series

    PubMed Central

    Quintanilla-Dieck, Lourdes; Virgin, Frank; Wootten, Chistopher; Goudy, Steven; Penn, Edward

    2016-01-01

    Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential. PMID:27034873

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

    PubMed

    Viteporn, S; Enemark, H; Melsen, B

    1991-10-01

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

  5. [Evidence of facial palsy and facial malformations in pottery from Peruvian Moche and Lambayeque pre-Columbian cultures].

    PubMed

    Carod-Artal, F J; Vázquez Cabrera, C B

    2006-01-01

    Moche (100-700 AD) and Lambayeque-Sicán (750-1100 AD) are pre-Columbian cultures from Regional States Period, developed in Northern Peru. Information about daily life, religion and medicine has been obtained through the study of Moche ceramics found in lords and priests tombs, pyramids and temples. To analyze archeological evidences of Moche Medicine and neurological diseases through ceramics. Representations of diseases in Moche and Lambayeque iconography and Moche pottery collections exposed in Casinelli museum from Trujillo, and Brüning National Archeological museum from Lambayeque, Peru, were studied. The most representative cases were analyzed and photographed, previous authorization from authorities and curators of the museums. The following pathologies were observed in ceramic collections: peripheral facial palsy, facial malformations such as cleft lip, hemifacial spasm, legs and arm amputations, scoliosis and Siamese patients. Male and females Moche doctors were also observed in the ceramics in ritual ceremonies treating patients. The main pathologies observed in Moche and Lambayeque pottery are facial palsy and cleft lip. These are one of the earliest registries of these pathologies in pre-Columbian cultures in South-America.

  6. Rating Nasolabial Aesthetics in Unilateral Cleft Lip and Palate Patients: Cropped Versus Full-Face Images.

    PubMed

    Schwirtz, Roderic M F; Mulder, Frans J; Mosmuller, David G M; Tan, Robin A; Maal, Thomas J; Prahl, Charlotte; de Vet, Henrica C W; Don Griot, J Peter W

    2018-05-01

    To determine if cropping facial images affects nasolabial aesthetics assessments in unilateral cleft lip patients and to evaluate the effect of facial attractiveness on nasolabial evaluation. Two cleft surgeons and one cleft orthodontist assessed standardized frontal photographs 4 times; nasolabial aesthetics were rated on cropped and full-face images using the Cleft Aesthetic Rating Scale, and total facial attractiveness was rated on full-face images with and without the nasolabial area blurred using a 5-point Likert scale. Cleft Palate Craniofacial Unit of a University Medical Center. Inclusion criteria: nonsyndromic unilateral cleft lip and an available frontal view photograph around 10 years of age. a history of facial trauma and an incomplete cleft. Eighty-one photographs were available for assessment. Differences in mean CARS scores between cropped versus full-face photographs and attractive versus unattractive rated patients were evaluated by paired t test. Nasolabial aesthetics are scored more negatively on full-face photographs compared to cropped photographs, regardless of facial attractiveness. (Mean CARS score, nose: cropped = 2.8, full-face = 3.0, P < .001; lip: cropped = 2.4, full-face = 2.7, P < .001; nose and lip: cropped = 2.6, full-face = 2.8, P < .001). Aesthetic outcomes of the nasolabial area are assessed significantly more positively when using cropped images compared to full-face images. For this reason, cropping images, revealing the nasolabial area only, is recommended for aesthetical assessments.

  7. First branchial cleft anomalies: otologic manifestations and treatment outcomes.

    PubMed

    Shinn, Justin R; Purcell, Patricia L; Horn, David L; Sie, Kathleen C Y; Manning, Scott C

    2015-03-01

    This study describes the presentation of first branchial cleft anomalies and compares outcomes of first branchial cleft with other branchial cleft anomalies with attention to otologic findings. Case series with chart review. Pediatric tertiary care facility. Surgical databases were queried to identify children with branchial cleft anomalies. Descriptive analysis defined sample characteristics. Risk estimates were calculated using Fisher's exact test. Queries identified 126 subjects: 27 (21.4%) had first branchial cleft anomalies, 80 (63.4%) had second, and 19 (15.1%) had third or fourth. Children with first anomalies often presented with otologic complications, including otorrhea (22.2%), otitis media (25.9%), and cholesteatoma (14.8%). Of 80 children with second branchial cleft anomalies, only 3 (3.8%) had otitis. Compared with children with second anomalies, children with first anomalies had a greater risk of requiring primary incision and drainage: 16 (59.3%) vs 2 (2.5%) (relative risk [RR], 3.5; 95% confidence interval [CI], 2.4-5; P<.0001). They were more likely to have persistent disease after primary excision: 7 (25.9%) vs 2 (2.5%) (RR, 3; 95% CI, 1.9-5; P=.0025). They were more likely to undergo additional surgery: 8 (29.6%) vs 3 (11.1%) (RR, 2.9; 95% CI, 1.8-4.7; P=.0025). Of 7 persistent first anomalies, 6 (85.7%) were medial to the facial nerve, and 4 (57.1%) required ear-specific surgery for management. Children with first branchial cleft anomalies often present with otologic complaints. They are at increased risk of persistent disease, particularly if anomalies lie medial to the facial nerve. They may require ear-specific surgery such as tympanoplasty. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

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

    PubMed Central

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

    2014-01-01

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

  9. Judgment of Nasolabial Esthetics in Cleft Lip and Palate Is Not Influenced by Overall Facial Attractiveness.

    PubMed

    Kocher, Katharina; Kowalski, Piotr; Kolokitha, Olga-Elpis; Katsaros, Christos; Fudalej, Piotr S

    2016-05-01

    To determine whether judgment of nasolabial esthetics in cleft lip and palate (CLP) is influenced by overall facial attractiveness. Experimental study. University of Bern, Switzerland. Seventy-two fused images (36 of boys, 36 of girls) were constructed. Each image comprised (1) the nasolabial region of a treated child with complete unilateral CLP (UCLP) and (2) the external facial features, i.e., the face with masked nasolabial region, of a noncleft child. Photographs of the nasolabial region of six boys and six girls with UCLP representing a wide range of esthetic outcomes, i.e., from very good to very poor appearance, were randomly chosen from a sample of 60 consecutively treated patients in whom nasolabial esthetics had been rated in a previous study. Photographs of external facial features of six boys and six girls without UCLP with various esthetics were randomly selected from patients' files. Eight lay raters evaluated the fused images using a 100-mm visual analogue scale. Method reliability was assessed by reevaluation of fused images after >1 month. A regression model was used to analyze which elements of facial esthetics influenced the perception of nasolabial appearance. Method reliability was good. A regression analysis demonstrated that only the appearance of the nasolabial area affected the esthetic scores of fused images (coefficient = -11.44; P < .001; R(2) = 0.464). The appearance of the external facial features did not influence perceptions of fused images. Cropping facial images for assessment of nasolabial appearance in CLP seems unnecessary. Instead, esthetic evaluation can be performed on images of full faces.

  10. 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; Don Griot, J P W

    2018-01-01

    Objective 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). Design 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. Setting VU University Medical Center, Amsterdam. Patients 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. Main Outcome Measures The interobserver and intraobserver reliability of the CARS for 18-year-old patients when used by cleft surgeons and medical students. Results 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). Conclusions 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.

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

    PubMed

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

    2014-07-01

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

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

    PubMed

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

    2016-05-01

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

  13. The double auditory meatus--a rare first branchial cleft anomaly: clinical presentation and treatment.

    PubMed

    Stokroos, R J; Manni, J J

    2000-11-01

    To discuss the embryology, classification, clinical experience with, and management of first branchial cleft anomalies. Retrospective case review. Tertiary referral center. Patients with a first branchial cleft anomaly. Surgery or revision surgery. Classifications according to Work, Olsen, Chilla; previous diagnostic and therapeutic pitfalls; outcome of intervention (including facial nerve function). Between 1984 and 1999, first branchial cleft anomalies were diagnosed in 18 patients. Surgical treatment was the treatment of choice. The authors' approach in Work type I and type 2 lesions is described, and surgical aspects of revision surgery are discussed. The importance of early establishment of the relationship of the anomaly to the facial nerve is stressed. In 8 patients, previous surgical attempts had been undertaken without establishment of the diagnosis first. After intervention, the outcome was favorable. First branchial cleft anomalies occur sporadically in ordinary clinical practice. They may go unrecognized or may be mistaken for tumors or other inflammatory lesions of in the periauricular region. However, the distinct clinical features, which can be derived from embryologic development, usually lead to the correct diagnosis. This avoids both treatment delay and eventual failure.

  14. Short mandible - a possible risk factor for cleft palate with/without a cleft lip.

    PubMed

    Hermann, N V; Darvann, T A; Ersbøll, B K; Kreiborg, S

    2014-05-01

    To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral incomplete cleft lip (UICL). Cephalometric X-rays were obtained. Mandibular length (Lm ) was measured and corrected for body length (Lb ) to remove influence of varying body length in the sample. Logistic regression was applied to the corrected mandibular length (Lmc ) to calculate the risk of having a cleft palate. The mean mandibular length in the group with CP was about 4 mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases about 50% per mm decrease in mandibular length. A special facial type including a short mandible is a possible risk factor for cleft palate, and it was found that the risk of cleft palate increases 58% per mm decreases in mandibular length. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Morphological evaluation of clefts of the lip, palate, or both in dogs.

    PubMed

    Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

    2017-08-01

    OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

  16. 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

  17. First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

    PubMed Central

    Abdollahi fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

    2014-01-01

    Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal. Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. Conclusion: It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear. PMID:25320705

  18. First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma.

    PubMed

    Abdollahi Fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

    2014-10-01

    First branchial cleft anomalies manifest with duplication of the external auditory canal. This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

  19. 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

  20. Maxillary gap at 11-13 weeks' gestation: marker of cleft lip and palate.

    PubMed

    Chaoui, R; Orosz, G; Heling, K S; Sarut-Lopez, A; Nicolaides, K H

    2015-12-01

    To describe a new sign of cleft lip and palate (CLP), the maxillary gap, which is visible in the mid-sagittal plane of the fetal face used routinely for measurement of nuchal translucency thickness. This was a retrospective study of stored images of the mid-sagittal view of the fetal face at 11-13 weeks' gestation in 86 cases of CLP and 86 normal controls. The images were examined to determine if a maxillary gap was present, in which case its size was measured. In 37 (43.0%) cases of CLP the defect was isolated and in 49 (57.0%) there were additional fetal defects. In the isolated CLP group, the diagnosis of facial cleft was made in the first trimester in nine (24.3%) cases and in the second trimester in 28 (75.7%). In the group with additional defects, the diagnosis of facial cleft was made in the first trimester in 46 (93.9%) cases and in the second trimester in three (6.1%). A maxillary gap was observed in 96% of cases of CLP with additional defects, in 65% of those with isolated CLP and in 7% of normal fetuses. There was a large gap (>1.5 mm) or complete absence of signals from the maxilla in the midline in 69% of cases of CLP with additional defects, in 35% of those with isolated CLP and in none of the normal controls. The maxillary gap is a new simple marker of possible CLP, which could increase the detection rate of CLP, especially in isolated cases. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  1. [First branchial cleft cyst in nasopharynx: a case report].

    PubMed

    2017-09-20

    We report a rare case of first branchial cleft cyst arising from the nasopharynx. A 47-year old woman with a six-month-history of right ear stuffy and hearing loss was studied. Electronic nasopharyngeal examination revealed a mass in the nasopharynx of this case. The tumor was removed endoscopically with endonasal approach. Postoperative pathological examination indicated that it was branchial cleft cyst. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

  2. Fryns anophthalmia-plus syndrome: two rare cases.

    PubMed

    Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

    2014-01-01

    Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

  3. Second branchial cleft anomaly with an ectopic tooth: a case report.

    PubMed

    Alyono, Jennifer C; Hong, Paul; Page, Nathan C; Malicki, Denise; Bothwell, Marcella R

    2014-09-01

    Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts. Of these diverse anomalies, second branchial cleft lesions are the most common, accounting for approximately 95% of all branchial arch pathologies. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly. The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome. We describe the clinical presentation, management, pathologic analysis, and postoperative outcomes of this case, and we present a brief review of Townes-Brocks syndrome.

  4. Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts.

    PubMed

    Nicollas, R; Tardivet, L; Bourlière-Najean, B; Sudre-Levillain, I; Triglia, J M

    2005-02-01

    To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. Retrospective study and review of the literature Both patients were young girls free of past medical or surgical history. Surgical removal of the first cleft anomaly found in the two cases a fistula routing underneath the facial nerve. Both cholesteatomas were located in the hypotympanum, mesotympanum. In one case, an anatomical link between the two malformations was clearly identified with CT scan. The main embryological theories and classification are reviewed. A connection between Aimi's and Michaels' theories (congenital cholesteatoma) and Work classification might explain the reported clinical association.

  5. Facial growth and development in unilateral cleft lip and palate from the time of palatoplasty to the onset of puberty: a longitudinal study.

    PubMed

    Smahel, Z; Müllerová, Z

    1995-01-01

    X-ray cephalometry was used for the assessment of facial growth and development from the time of palate surgery to the onset of puberty (from 5 to 11 years) in 24 boys with unilateral cleft lip and palate treated with primary periosteoplasty (at 8 months) and palatal pushback supplemented by pharyngeal flap surgery (at 5 years). The lowest growth showed the depth of the maxilla and the height of the upper lip. An increasing protrusion of the mandible and in particular the increasing retrusion of the maxilla resulted in a flattening of the face and in an impairment of sagittal jaw relations. However, it was possible to attain an improvement of overjet produced by a substantial increase of the proclination of upper incisors and of the alveolar process. There was a deterioration of the prominence of the upper lip. Anterior growth rotation was absent during the development of the face, though a rotation in both directions was quite common in individual cases. The steepness of the mandibular body, vertical jaw relations, and facial vertical proportions remained unchanged. As compared to the pubertal period, the growth and development differed only by a more marked proclination of the dentoalveolar component of the maxilla and by an improvement of overjet. Facial convexity and sagittal jaw relations deteriorated in more than 90% of the patients, the overjet only in 20%, yet the prominence of the lip in 70%. Facial convexity and sagittal jaw relations were not correlated with mandibular rotation but they affected the overjet and the prominence of the upper lip.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. 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.

  7. Anterior Segmental Distraction Osteogenesis in the Hypoplastic Cleft Maxilla

    PubMed Central

    Rao (Janardhan), Sruthi; Kotrashetti, S. M.; Lingaraj, J. B.; Pinto, P. X.; Keluskar, K. M.; Jain, Siddharth; Sone, Piyush; Rao, Santhosh

    2013-01-01

    Orthognathic surgery and distraction osteogenesis play a prime role in the correction of maxillary hypoplasia in patients with cleft lip and palate (CLP). Advancement of the anterior maxilla alone without interfering with the velopharyngeal sphincter may be advantageous in cleft patients, who more commonly have speech deficits and dental crowding. We present a case series of anterior maxillary segmental distraction for maxillary hypoplasia in 5 CLP patients with a one-year follow-up. A custom-made tooth-borne distraction device with a hyrax screw positioned anteroposteriorly was used. The evaluation comprised of hard and soft tissue analysis and speech assessment. A stable occlusion with positive overjet and correction of dental-crowding without extraction was achieved at one year post-distraction. Facial profile and lip support improved. There was no deterioration in speech. PMID:23984033

  8. [Cloverleaf skull and bilateral facial clefts].

    PubMed

    Alvarez-Manassero, Denisse; Manassero-Morales, Gioconda

    2015-01-01

    Cloverleaf skull syndrome, or Kleeblattschädel syndrome, is a rare malformation in which the skull has a cloverleaf appearance. It is caused by the premature closure of several sutures, being evident before birth. To present our experience in a case of cloverleaf skull syndrome, and update the information from the literature. A female infant of 5 months of age, diagnosed at birth with cleft lip and palate and hydrocephaly. A peritoneal ventricle valve was implanted at 30 days of life, and an ocular enucleation was performed due to an infectious process. The patient was followed-up in Genetics, where it confirmed a macrocephaly and craniosynostosis type cloverleaf skull. The 46XX cytogenetic study and echocardiography were normal. The brain CT scan showed multiple anomalies associated with hydrocephaly and non-specific malformations. Cloverleaf skull may be present in isolated form or associated with other congenital abnormalities, leading to various craniosynostosis syndromes, such as Crouzon, Pfeiffer or Carpenter. It may also be a component of the amniotic rupture sequence or to different dysplasias, such as campomelic dysplasia, thanatophoric dysplasia type 2, or the asphyxiating thoracic dystrophy of Jeune. The case presented does not fulfil all the characteristics needed to be included within a specific syndrome, and on not having a family history that suggests a hereditary pattern or chromosome abnormalities, it is concluded that it is a case of a congenital anomaly of sporadic presentation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

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

    PubMed Central

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

    1991-01-01

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

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

    PubMed

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

    2015-10-01

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

  11. Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation.

    PubMed

    Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

    2016-01-01

    Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D planning.

  12. Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation

    PubMed Central

    Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

    2016-01-01

    Background Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. Patients and Methods This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. Results 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Conclusion Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is

  13. 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.

  14. 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.

  15. 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.

  16. Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

    PubMed

    Morselli, Paolo G; Pinto, Valentina; Negosanti, Luca; Firinu, Antonella; Fabbri, Erich

    2012-09-01

    The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.

  17. 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

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

    PubMed

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

    2016-11-01

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

  19. 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.

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

    PubMed

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

    2018-04-01

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

  1. Current concepts in cleft care: A multicenter analysis.

    PubMed

    Thiele, Oliver C; Kreppel, Matthias; Dunsche, Anton; Eckardt, Andre M; Ehrenfeld, Michael; Fleiner, Bernd; Gaßling, Volker; Gehrke, Gerd; Gerressen, Marcus; Gosau, Martin; Gröbe, Alexander; Haßfeld, Stefan; Heiland, Max; Hoffmeister, Bodo; Hölzle, Frank; Klein, Cornelius; Krüger, Maximilian; Kübler, Alexander C; Kübler, Norbert R; Kuttenberger, Johannes J; Landes, Constantin; Lauer, Günter; Martini, Markus; Merholz, Erich T; Mischkowski, Robert A; Al-Nawas, Bilal; Nkenke, Emeka; Piesold, Jörn U; Pradel, Winnie; Rasse, Michael; Rachwalski, Martin; Reich, Rudolf H; Rothamel, Daniel; Rustemeyer, Jan; Scheer, Martin; Schliephake, Henning; Schmelzeisen, Rainer; Schramm, Alexander; Schupp, Wiebke; Spitzer, Wolfgang J; Stocker, Erwin; Stoll, Christian; Terheyden, Hendrik; Voigt, Alexander; Wagner, Wilfried; Weingart, Dieter; Werkmeister, Richard; Wiltfang, Jörg; Ziegler, Christoph M; Zöller, Joachim E

    2018-04-01

    The current surgical techniques used in cleft repair are well established, but different centers use different approaches. To determine the best treatment for patients, a multi-center comparative study is required. In this study, we surveyed all craniofacial departments registered with the German Society of Maxillofacial Surgery to determine which cleft repair techniques are currently in use. Our findings revealed much variation in cleft repair between different centers. Although most centers did use a two-stage approach, the operative techniques and timing of lip and palate closure were different in every center. This shows that a retrospective comparative analysis of patient outcome between the participating centers is not possible and illustrates the need for prospective comparative studies to establish the optimal technique for reconstructive cleft surgery. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  2. Cleft Type, Age, and Sex Differences in Teen-Agers' Ratings of Their Own Behavior, Self-Esteem, and Attitude toward Clefting.

    ERIC Educational Resources Information Center

    Starr, Philip

    1980-01-01

    The behavior, self-esteem, and attitude toward clefting of 94 adolescents being treated at a clinic for oral-facial anomalies and communicative disorders were examined. Younger teenagers were more aggressive, more active, and had more somatic complaints than did the older teenagers. (SBH)

  3. Interdisciplinary treatment of an adolescent with unilateral cleft lip and palate.

    PubMed

    Adusumilli, Sai Prakash; Sudhakar, P; Mummidi, Bhaskar; Reddy, K V Baburam; Rao, C H Hanumantha; Raju, B H V Rama Krishnam

    2013-03-01

    The present case report describes the importance of interdisciplinary approach and gives an understanding on management of an adolescent with unilateral cleft lip and palate. Failure of fusion between medial nasal process and maxillary process or between the palatal process leads to the formation of clefts. Clefts are result of genetic or environmental factors or a combination of both. Common dental problems associated with clefts includes anterior and posterior crossbites, hypodontia, malformation and abnormal eruption pattern. A girl, aged 15 years reported with a chief complaint of unesthetic appearance of her maxillary anterior teeth. She had unilateral cleft lip and palate and had received cheiloplasty and palatoplasty when she was in young age and rhinoplasty when she was 14 years of age. At pretreatment evaluation, she had concave profile with maxillary arch constriction and oroantral fistula and mesially tipped maxillary left canine. This patient's treatment was unconventional, but it was successful in significantly improving her masticatory function and smile, along with favorable dental and facial results. Generalized esthetics and function were significantly improved in this patient without orthognathic surgery, and treatment results were stable 3 years after the appliance removal. Clinical considerations, sequencing of treatment phases as shown in this case report can be utilized while treating an adolescent with cleft lip and palate. If the skeletal discrepancy is mild and esthetic concerns are minimal, dental compensation by orthodontic treatment alone might be recommended. The cephalometric analysis and prediction tracings provide further information for deciding whether a patient can be treated by orthodontics alone, or by orthodontics and an orthognathic surgical procedure. A change in axial inclination of the teeth can camouflage the skeletal relationship adequately. However, one should be cautious in a growing patient, because he or she might

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

    PubMed

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

    2006-09-01

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

  5. Facial reanimation by muscle-nerve neurotization after facial nerve sacrifice. Case report.

    PubMed

    Taupin, A; Labbé, D; Babin, E; Fromager, G

    2016-12-01

    Recovering a certain degree of mimicry after sacrifice of the facial nerve is a clinically recognized finding. The authors report a case of hemifacial reanimation suggesting a phenomenon of neurotization from muscle-to-nerve. A woman benefited from a parotidectomy with sacrifice of the left facial nerve indicated for recurrent tumor in the gland. The distal branches of the facial nerve, isolated at the time of resection, were buried in the masseter muscle underneath. The patient recovered a voluntary hémifacial motricity. The electromyographic analysis of the motor activity of the zygomaticus major before and after block of the masseter nerve showed a dependence between mimic muscles and the masseter muscle. Several hypotheses have been advanced to explain the spontaneous reanimation of facial paralysis. The clinical case makes it possible to argue in favor of muscle-to-nerve neurotization from masseter muscle to distal branches of the facial nerve. It illustrates the quality of motricity that can be obtained thanks to this procedure. The authors describe a simple implantation technique of distal branches of the facial nerve in the masseter muscle during a radical parotidectomy with facial nerve sacrifice and recovery of resting tone but also a quality voluntary mimicry. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  6. Unilateral Cleft Hand with Cleft Foot

    PubMed Central

    Baba, Asif Nazir; Bhat, Yasmeen J.; Ahmed, Sheikh Mushtaq; Nazir, Abid

    2009-01-01

    Congenital anomalies of the hand form an important class of congenital malformations. They have a huge functional importance because of the part played by the hand in the daily activities of a person. The deformities also have significant cosmetic significance and may also be associated with other anomalies. Amongst the congenital anomalies, central deficiency or cleft hand is relatively rare. The association of cleft foot with cleft hand is an even more rare occurance. We present a case report of a 6 year old child, born of a non-consanginous marriage, having congenital central deficiency of ipsilateral hand and foot. PMID:21475543

  7. Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

    PubMed

    Rachmiel, Adi; Turgeman, Shahar; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

    2018-02-01

    Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

  8. Speech characteristics in a Ugandan child with a rare paramedian craniofacial cleft: a case report.

    PubMed

    Van Lierde, K M; Bettens, K; Luyten, A; De Ley, S; Tungotyo, M; Balumukad, D; Galiwango, G; Bauters, W; Vermeersch, H; Hodges, A

    2013-03-01

    The purpose of this study is to describe the speech characteristics in an English-speaking Ugandan boy of 4.5 years who has a rare paramedian craniofacial cleft (unilateral lip, alveolar, palatal, nasal and maxillary cleft, and associated hypertelorism). Closure of the lip together with the closure of the hard and soft palate (one-stage palatal closure) was performed at the age of 5 months. Objective as well as subjective speech assessment techniques were used. The speech samples were perceptually judged for articulation, intelligibility and nasality. The Nasometer was used for the objective measurement of the nasalance values. The most striking communication problems in this child with the rare craniofacial cleft are an incomplete phonetic inventory, a severely impaired speech intelligibility with the presence of very severe hypernasality, mild nasal emission, phonetic disorders (omission of several consonants, decreased intraoral pressure in explosives, insufficient frication of fricatives and the use of a middorsum palatal stop) and phonological disorders (deletion of initial and final consonants and consonant clusters). The increased objective nasalance values are in agreement with the presence of the audible nasality disorders. The results revealed that several phonetic and phonological articulation disorders together with a decreased speech intelligibility and resonance disorders are present in the child with a rare craniofacial cleft. To what extent a secondary surgery for velopharyngeal insufficiency, combined with speech therapy, will improve speech intelligibility, articulation and resonance characteristics is a subject for further research. The results of such analyses may ultimately serve as a starting point for specific surgical and logopedic treatment that addresses the specific needs of children with rare facial clefts. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

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

    PubMed

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

    2010-09-01

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

  10. A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation.

    PubMed

    Jain, S; Deshmukh, Pt; Gupta, M; Shukla, S

    2014-01-01

    First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported.

  11. A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation

    PubMed Central

    Jain, S; Deshmukh, PT; Gupta, M; Shukla, S

    2014-01-01

    First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported. PMID:24669347

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

    PubMed

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

    2013-04-23

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

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

    PubMed

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

    2013-11-01

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

  14. [A text-book case of tropical facial elephantiasis].

    PubMed

    Dilu, N-J; Sokolo, R

    2007-02-01

    Tropical facial elephantiasis is a nosological entity which can arise from various underlying causes: von Recklinghausen neurofibromatosis, lymphatic and cutaneodermal filarioses, deep mycosis. We report an exceptional case of tropical facial elephantiasis caused by onchocercosis and entomophtoromycosis (rhinophycomycosis). The patient's facial morphology was noted "hippopotamus-face" or "dog-face". Onchocercosis and entomophtoromycosis are two diseases known to cause facial elephantiasis. We have not however been able to find any case report in the literature of co-morbidity nor any information on factors predictive of concomitant occurrence.

  15. Dominantly inherited syndrome of microcephaly and cleft palate.

    PubMed

    Halal, F

    1983-05-01

    Two sisters and their mother had a syndrome of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild mental retardation, and abnormal dermatoglyphics. This is an evidently dominantly inherited trait, either autosomal or X-linked.

  16. Simple solution for difficult face mask ventilation in children with orofacial clefts.

    PubMed

    Veerabathula, Prardhana; Patil, Manajeet; Upputuri, Omkar; Durga, Padmaja

    2014-10-01

    Significant air leak from the facial cleft predisposes to difficult mask ventilation. The reported techniques of use of sterile gauze, larger face mask and laryngeal mask airway after intravenous induction have limited application in uncooperative children. We describe the use of dental impression material molded to the facial contour to cover the facial defect and aid ventilation with an appropriate size face mask in a child with a bilateral Tessier 3 anomaly. © 2014 John Wiley & Sons Ltd.

  17. 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.

  18. Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on Cleft Lip and Palate.

    PubMed

    Adetayo, Oluwaseun; Ford, Rachel; Martin, Mark

    2012-01-01

    The goals of this study were to delineate the protocols employed for managing patients with cleft lip and palate deformities, delineate the challenges facing practitioners and patients, and to determine the patient and physician barriers to cleft care delivery in the region. Survey questionnaires were administered to practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP), which took place in Ibadan, Nigeria, West Africa from February 4-7, 2007. The conference included 225 participants, representing 17 African countries Protocols for repair of cleft lip and palate deformities were varied, with Millard's and von Langenbeck's techniques being the preferred approach for the management of cleft lip and palate deformities, respectively. A large proportion of providers have limited access to core cleft care supporting teams, especially speech language pathologists, orthodontists, and audiologists. Several challenging barriers to cleft care were also identified at both the institutional and individual levels and are reported. Geographic separation in Africa presents a similar challenge due to isolationism as it does to surgeons in Europe. Specific to Africa are the increased barriers to care, and economic and financial hardship at various levels. A focus on funding, team building, infrastructural support, and patient education appear to be crucial in improving the care and lives of children with facial clefts in Africa.

  19. Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

    PubMed Central

    Rachmiel, Adi; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

    2018-01-01

    Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Methods: Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Results: Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. Conclusions: We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation. PMID:29616174

  20. Psychosocial acceptance of cleft patients: has something changed?

    PubMed

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

    2016-03-01

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

  1. Facial duplication: case, review, and embryogenesis.

    PubMed

    Barr, M

    1982-04-01

    The craniofacial anatomy of an infant with facial duplication is described. There were four eyes, two noses, two maxillae, and one mandible. Anterior to the single pituitary the brain was duplicated and there was bilateral arhinencephaly. Portions of the brain were extruded into a large frontal encephalocele. Cases of symmetrical facial duplication reported in the literature range from two complete faces on a single head (diprosopus) to simple nasal duplication. The variety of patterns of duplication suggests that the doubling of facial components arises in several different ways: Forking of the notochord, duplication of the prosencephalon, duplication of the olfactory placodes, and duplication of maxillary and/or mandibular growth centers around the margins of the stomatodeal plate. Among reported cases, the female:male ratio is 2:1.

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

    PubMed

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

    2018-02-19

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

  3. 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.

  4. Cleft Palate Repair Using a Double Opposing Z-Plasty.

    PubMed

    Moores, Craig; Shah, Ajul; Steinbacher, Derek M

    2016-07-01

    Cleft palate is a common congenital defect with several described surgical repairs. The most successful treatment modality remains a controversy. The goals of repair focus on achievement of normal speech and optimizing velopharyngeal function while minimizing both fistula formation and facial growth restriction. In this video, the authors demonstrate use of the double opposing Z-plasty technique in the repair of a Veau II type cleft palate. The video demonstrates the marking, incisions, dissection, and repair of the cleft. It also examines the use of von Langenbeck-type relaxing incisions and demonstrates a specific approach to the repair of this particular cleft. The authors believe that the Furlow double opposing Z-plasty with the von Langenbeck relaxing incision can provide the best postoperative outcome by combining the benefits of each individual operation. The Z-plasty technique works to correct the aberrant muscle of the soft palate while increasing the length of the palate. The authors believe that this results in better velopharyngeal function.

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

    PubMed

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

    2000-05-01

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

  6. 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

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

    PubMed

    Schönweiler, R; Schönweiler, B; Schmelzeisen, R

    1994-11-01

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

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

    PubMed

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

    2014-01-01

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

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

    PubMed

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

    2018-04-16

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

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

    PubMed Central

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

    2018-01-01

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

  11. Branchial cleft-like cysts in Hashimoto's thyroiditis: A case report and literature review.

    PubMed

    Miyazaki, Masaya; Kiuchi, Shizuka; Fujioka, Yasunori

    2016-05-01

    We report an extremely rare case of branchial cleft-like cysts in Hashimoto's thyroiditis. The patient was a 77-year-old man with a growing mass in the anterior neck. Ultrasonography and computed tomography revealed a cystic lesion with septum in the left thyroid and multiple small cystic lesions in the right thyroid. Lymph node swelling of the cervical region, supraclavicular fossa and submandibular region was also observed. Left thyroidectomy and lymph node dissection were performed. Histologically, cysts were lined by stratified squamous epithelium and dense lymphoid tissue having conspicuous follicle formation surrounded the epithelial lining. Solid cell nest (SCN)-like aggregations were seen in the thyroid parenchyma adjacent to the cyst walls and a small number of thyroid follicles were observed in the fibrous wall. Immunohistochemically, it is suggested that both the cyst lining and SCN-like aggregations are originally from thyroid follicles. Although, the exact histogenesis of branchial cleft-like cysts remains unclear, there are probably two different processes for its development, one is of branchial cleft origin and the other is mere squamous metaplasia, while in our case the latter is suggested. Herein, we report our new case and update information about branchial cleft-like cysts that appears in the literature. © 2016 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

  12. [Clinical experience in facial nerve tumors: a review of 27 cases].

    PubMed

    Zhang, Fan; Wang, Yucheng; Dai, Chunfu; Chi, Fanglu; Zhou, Liang; Chen, Bing; Li, Huawei

    2010-01-01

    To analyze the clinical manifestations and the diagnosis of the facial nerve tumor according to the clinical information, and evaluate the different surgical approaches depending on tumor location. Twenty-seven cases of facial nerve tumors with general clinical informations available from 1999.9 to 2006.12 in the Shanghai EENT Hospital were reviewed retrospectively. Twenty (74.1%) schwannomas, 4 (14.8%) neurofibromas ,and 3 (11.1%) hemangiomas were identified with histopathology postoperatively. During the course of the disease, 23 patients (85.2%) suffered facial paralysis, both hearing loss and tinnitus affected 11 (40.7%) cases, 5 (18.5%) manifested infra-auricular mass and the others showed some of otalgia or vertigo or ear fullness or facial numbness/twitches. CT or/and MRI results in 24 cases indicated that the tumors originated from the facial nerve. Intra-operative findings showed that 24 (88.9%) cases involved no less than 2 segments of the facial nerve, of these 24 cases 87.5% (21/24) involved the mastoid portion, 70.8% (17/24) involved the tympanic portion, 62.5% (15/24) involved the geniculate ganglion, only 4.2% (1/24) involved the internal acoustic canal (IAC), and 3 cases (11.1%) had only one segments involved. In all of these 27 cases, the tumors were completely excised, of which 13 were resected followed by an immediate facial nerve reconstruction, including 11 sural nerve cable graft, 1 facial nerve end-to-end anastomosis and 1 hypoglossal-facial nerve end-to-end anastomosis. Tumors were removed with preservation of facial nerve continuity in 2 cases. Facial nerve tumor is a rare and benign lesion, and has numerous clinical manifestations. CT and MRI can help surgeons to make a right diagnosis preoperatively. When and how to give the patients an operation depends on the patients individually.

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

    PubMed

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

    2017-04-01

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

  14. 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.

  15. Lip prints and inheritance of cleft lip and cleft palate.

    PubMed

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

    2014-07-01

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

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

    PubMed

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

    2011-11-01

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

  17. Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

    PubMed

    Toriello, Helga V; Lemire, Edmond G

    2002-01-01

    We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.

  18. Orthodontically guided bone transport in the treatment of alveolar cleft: A case report

    PubMed Central

    Gómez, Elena; Otero, Marta; Berraquero, Rosario; Wucherpfennig, Begona; Hernández-Godoy, Juan; Guiñales, Jorge; Vincent, Germán; Burgueño, Miguel

    2016-01-01

    Introduction Conventional treatments are sometimes not possible in certain alveolar cleft cases due to the severity of the gap which separates the fragments. Various management strategies have been proposed, including sequential surgical interventions or delaying treatment until adulthood to then carry out maxillary osteotomies. A further alternative approach has also been proposed, involving the application of bone transport techniques to mobilise the osseous fragments and thereby reduce the gap between lateral fragments and the premaxilla. Case Report We introduce the case of a 10-year-old patient who presented with a bilateral alveolar cleft and a severe gap. Stable occlusion between the premaxilla and the mandible was achieved following orthodontic treatment, making it inadvisable to perform a retrusive osteotomy of the premaxilla in order to close the alveolar clefts. Faced with this situation, it was decided we would employ a bone transport technique under orthodontic guidance using a dental splint. This would enable an osseous disc to be displaced towards the medial area and reduce the interfragmentary distance. During a second surgical intervention, closure of the soft tissues was performed and the gap was filled in using autogenous bone. Conclusions The use of bone transport techniques in selected cases allows closure of the osseous defect, whilst also preserving soft tissues and reducing the amount of bone autograft required. In our case, we were able to respect the position of the premaxilla and, at the same time, generate new tissues at both an alveolar bone and soft tissue level with results which have remained stable over the course of time. Key words:Alveolar cleft, bone transport, graft. PMID:26855699

  19. First branchial cleft anomaly.

    PubMed Central

    Al-Fallouji, M. A.; Butler, M. F.

    1983-01-01

    A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of the cyst. Such an anatomical position indicates that this was a first branchial cleft anomaly. Surgical excision of the cyst was performed. PMID:6622327

  20. Rehabilitation of a One-day-Old Neonate with Cleft Lip and Palate using Palatal Obturator: A Case Report.

    PubMed

    Bansal, Rajesh; Kumar Pathak, Ashish; Bhatia, Baldev; Gupta, Sailesh; Kumar Gautam, Keshav

    2012-05-01

    Feeding a neonate with a complete cleft lip and palate is difficult pursuit due to communication between oral cavity and nasal cavity. A multidisciplinary approach is required to manage the complex problems involved in case of such neonates and their families. Present case is of a 1-day-old neonate having complete bilateral cleft lip and palate for which palatal obturator was constructed. A stepwise simple, easy and uncomplicated procedure for making accurate impressions, maxillary cast and fabrication of palatal obturator in infants with cleft lip and palate has been presented. The objective to present this case report is to emphasize the fact that how these palatal obturators /plates help in feeding, speech/language development, presurgical orthopedics and prevent other associated otorhinolaryngeal problems. How to cite this article: Bansal R, Pathak AK, Bhatia B, Gupta S, Gautam KK. Rehabilitation of a One-day Old Neonate with Cleft Lip and Palate using Palatal Obturator: A Case Report. Int J Clin Pediatr Dent 2012;5(2):145-147.

  1. Lip Prints and Inheritance of Cleft Lip and Cleft Palate

    PubMed Central

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

    2014-01-01

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

  2. Bilateral traumatic facial paralysis. Case report.

    PubMed

    Undabeitia, Jose; Liu, Brian; Pendleton, Courtney; Nogues, Pere; Noboa, Roberto; Undabeitia, Jose Ignacio

    2013-01-01

    Although traumatic injury of the facial nerve is a relatively common condition in neurosurgical practice, bilateral lesions related to fracture of temporal bones are seldom seen. We report the case of a 38-year-old patient admitted to Intensive Care Unit after severe head trauma requiring ventilatory support (Glasgow Coma Scale of 7 on admission). A computed tomography (CT) scan confirmed a longitudinal fracture of the right temporal bone and a transversal fracture of the left. After successful weaning from respirator, bilateral facial paralysis was observed. The possible aetiologies for facial diplegia differ from those of unilateral injury. Due to the lack of facial asymmetry, it can be easily missed in critically ill patients, and both the high resolution CT scan and electromyographic studies can be helpful for correct diagnosis. Copyright © 2012 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  3. Updating concepts of first branchial cleft defects: a literature review.

    PubMed

    D'Souza, Alwyn R; Uppal, Harpreet S; De, Ranit; Zeitoun, Hisham

    2002-02-01

    The Sinuses and fistulae of first branchial cleft origin have been widely reported in the literature and their variable relationship to the facial nerve has been described. Most published series however are too small to allow a detailed analysis of the relative frequency of various relationships of these lesions to the facial nerve and therefore enabling the determination of risks to the nerve at surgery. The aim of this study was to perform a comprehensive review of literature in an attempt to identify those patients with a deep tract (lying deep to the main trunk of the facial nerve and/or its branches, and/or between the branches) and to recognize the incidence of the complications of surgical management. Available English, French and German literature between 1923 and 2000 was reviewed and variables including patient's age, sex, side and type of anomaly, opening of the lesion and the relationship of the tract are analyzed in relation to the position of the facial nerve. The complications due to their surgical excision are also reported. Of the total number of cases with fistulae and sinuses identified (n=158) fistulous tracts were more likely to lie deep to the facial nerve compared with sinus tracts (P=0.01). Lesions with openings in the external auditory meatus are associated with a tract superficial to the facial nerve (P=0.05). Patients presenting at a younger age were more likely to have a deep tract with consequent increased risk of facial nerve damage. Identification of the facial nerve trunk at an early stage of dissection is critical. Extra care and caution should be exercised in younger patients (<6 months), those with fistulous tracts and in patients with a tract opening elsewhere other than the external auditory canal.

  4. A Rare Case Report of a Child Coexistence Thyroglossal Cyst and Second Branchial Cleft Fistulae.

    PubMed

    Mahdoufi, Rachid; Barhmi, Ismail; Tazi, Nabil; Rouadi, Sami; Abada, Reda; Roubal, Mohamed; Mahtar, Mohamed

    2017-06-01

    Thyroglossal duct cysts followed by branchial cleft anomalies are the most common congenital neck masses encountered in practice, second branchial cleft cysts and sinuses are the most common type (LaRiviere and Waldhausen in Surg Clin North Am 92(3):583-597, 2012). Although both abnormalities are common individually, but rarely seen associated in same patient as described in our case. Congenitalcervical anomalies are important to consider in the differential of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies. A synchronous presentation of both type of cyst and fistula in a same child patient is very rare with no such cases reported in literature till date.

  5. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

    PubMed

    Yoshida, Kazue; Hayashi, Ryota; Fujita, Hideki; Kubota, Masaya; Kondo, Mai; Shimomura, Yutaka; Niizeki, Hironori

    2015-07-01

    Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. © 2015 Japanese Dermatological Association.

  6. Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer: A Case-Control Study.

    PubMed

    Bui, Anthony H; Ayub, Ayisha; Ahmed, Mairaj K; Taioli, Emanuela; Taub, Peter J

    2018-04-01

    Cleft lip and/or cleft palate (CL ± P) are among the most common congenital anomalies. Nevertheless, their etiologies remain poorly understood. Several studies have demonstrated increased rates of cancer among patients with CL ± P and their relatives, as well as increased risk of CL ± P among family members of cancer survivors. In addition, a number of possible genetic associations between cancer and CL ± P have been identified. However, these studies are limited by confounding factors that may be prevalent in these patients, such as tobacco exposure and perinatal complications.The purpose of this study was to quantitatively evaluate the association between family history of cancer and development of CL ± P in the child. A case-control study was conducted at the Cleft Hospital and the Bashir Hospital in Gujrat, Pakistan from December 2015 to December 2016. All new cases of CL ± P at the Cleft Hospital were included. Sociodemographically similar patients without congenital malformations at the Bashir Hospital served as controls. Risk factors associated with CL ± P were identified through bivariate analyses. Multiple logistic regressions were performed to calculate adjusted odds ratios of developing CL ± P. There were 137 patients with CL ± P and 147 controls in the study. The following factors were statistically significantly associated with development of cleft: history of cancer in the family (P < 0.001), complications during pregnancy (P = 0.02), maternal hypertension during pregnancy (P = 0.01), mother not on any medications (P < 0.001), consanguineous marriage (parents are first or second cousins) (P = 0.03), lower socioeconomic status (P < 0.001), having a parent who smokes (P = 0.001), and history of miscarriage (P = 0.01). After adjustment for these variables, having a history of cancer in the family was independently associated with a 5.19 times increased odds of the child being born with CL ± P (95% confidence interval [CI], 1.57-17.03). Middle

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

    PubMed

    Chapados, C

    1997-01-01

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

  8. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    PubMed

    Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

    2015-07-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

  9. Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

    PubMed

    Sales, Sizina Aguiar G; Santos, Maria Luiza; Machado, Renato Assis; Dias, Verônica Oliveira; Nascimento, Jairo Evangelista; Swerts, Mario Sérgio Oliveira; Júnior, Hercílio Martelli; Martelli, Daniella Reis Barbosa

    2017-08-24

    Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS ® version 19.0, by applying Chi-Square tests. Values with p<0.05 were considered statistically significant. Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p=0.773). The average age of children was 3.75 years (standard deviation±3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly. This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  10. Ear Infection in Isolated Cleft Lip: Etiological Implications

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2013-09-01

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

  12. A Report of Two Cases of Solid Facial Edema in Acne.

    PubMed

    Kuhn-Régnier, Sarah; Mangana, Joanna; Kerl, Katrin; Kamarachev, Jivko; French, Lars E; Cozzio, Antonio; Navarini, Alexander A

    2017-03-01

    Solid facial edema (SFE) is a rare complication of acne vulgaris. To examine the clinical features of acne patients with solid facial edema, and to give an overview on the outcome of previous topical and systemic treatments in the cases so far published. We report two cases from Switzerland, both young men with initially papulopustular acne resistant to topical retinoids. Both cases responded to oral isotretinoin, in one case combined with oral steroids. Our cases show a strikingly similar clinical appearance to the cases described by Connelly and Winkelmann in 1985 (Connelly MG, Winkelmann RK. Solid facial edema as a complication of acne vulgaris. Arch Dermatol. 1985;121(1):87), as well as to cases of Morbihan's disease that occurs as a rare complication of rosacea. Even 30 years after, the cause of the edema remains unknown. In two of the original four cases, a potential triggering factor was identified such as facial trauma or insect bites; however, our two patients did not report such occurrencies. The rare cases of solid facial edema in both acne and rosacea might hold the key to understanding the specific inflammatory pattern that creates both persisting inflammation and disturbed fluid homeostasis which can occur as a slightly different presentation in dermatomyositis, angioedema, Heerfordt's syndrome and other conditions.

  13. Branchial Cleft Cyst

    PubMed Central

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity. PMID:27904209

  14. Branchial Cleft Cyst.

    PubMed

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

  15. 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

  16. 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.

  17. Nasal Duplication Combined with Cleft Lip and Palate: Surgical Correction and Long-Term Follow-Up.

    PubMed

    Long, Kanharith; Yamaguchi, Kazuaki; Lonic, Daniel; Long, Vanna; Chhoeurn, Vuthy; Lo, Lun-Jou

    2017-10-01

    Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facial deformity due to the duplicated nose and the left complete cleft lip/palate on the right subset. There were 4 nostrils; both medial apertures including the cleft site were found to be 10-15 mm deep cul-de-sac structures without communication to the nasopharynx. The upper third of the face was notable for hypertelorism with a duplication of the soft-tissue nasion and glabella. Between the 2 nasal dorsums, there was a small cutaneous depression with a lacrimal fistula in the midline. Surgical treatment included the first stage of primary lip and nose repair and the second stage of palatoplasty. The patient was followed up at the age of 10 years showing satisfactory results for both aesthetic and functional aspects. Further management in the future will be required for the hypertelorism and nasal deformity.

  18. Nasal Duplication Combined with Cleft Lip and Palate: Surgical Correction and Long-Term Follow-Up

    PubMed Central

    Long, Kanharith; Yamaguchi, Kazuaki; Lonic, Daniel; Long, Vanna; Chhoeurn, Vuthy

    2017-01-01

    Background: Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. Methods: The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facial deformity due to the duplicated nose and the left complete cleft lip/palate on the right subset. Results: There were 4 nostrils; both medial apertures including the cleft site were found to be 10–15 mm deep cul-de-sac structures without communication to the nasopharynx. The upper third of the face was notable for hypertelorism with a duplication of the soft-tissue nasion and glabella. Between the 2 nasal dorsums, there was a small cutaneous depression with a lacrimal fistula in the midline. Surgical treatment included the first stage of primary lip and nose repair and the second stage of palatoplasty. Conclusions: The patient was followed up at the age of 10 years showing satisfactory results for both aesthetic and functional aspects. Further management in the future will be required for the hypertelorism and nasal deformity. PMID:29184738

  19. A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla.

    PubMed

    Andersen, Kristian; Nørholt, Sven Erik; Küseler, Annelise; Jensen, John; Pedersen, Thomas Klit

    2012-01-01

    To compare cleft lip and palate patients' satisfaction with aesthetics and functional parameters after conventional advancement of the maxilla or by the use of distraction osteogenesis. Case series observational study. Group of distraction osteogenesis (DO) consisted of 15 patients treated with distraction osteogenesis while group conventional (CONV) included 10 patients treated with traditional advancement of the maxilla. Patients were asked to fill out a questionnaire about their subjective evaluation of satisfaction with facial aesthetics and functional parameters on a continuous visual analog-scale (VAS) when the treatment was finished. The total response rate was 76%. Preoperatively the two groups did not differ significantly according to group characteristics. At follow-up both groups were satisfied with aesthetics and functional parameters. The DO group was less satisfied with the duration of the treatment than the CONV group. There were no statistically significant differences among the groups regarding functional parameters or facial aesthetics. Cleft lip and palate patients experienced a high level of satisfaction with functional parameters and aesthetics as a result of surgical maxillary advancement. The patients treated with distraction osteogenesis were less satisfied with the duration of the treatment. Further studies are needed.

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

    PubMed

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

    2016-10-01

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

  1. Dentofacial self-perception and social perception of adults with unilateral cleft lip and palate.

    PubMed

    Meyer-Marcotty, Philipp; Stellzig-Eisenhauer, Angelika

    2009-05-01

    The aim of this study was to investigate the influence of facial asymmetry on how an adult population with unilateral cleft lip and palate (CLP) perceived themselves and were perceived by others. 3D facial data of 30 adult patients with cleft lip and palate (CLP) was scanned and standardized extra- and intraoral photographs were taken. The measured degree of 3D asymmetry was computed for the entire face, midface and lower face. Subjective estimates regarding facial symmetry, attractiveness as well as satisfaction and a desire or indication for further treatment were surveyed by means of a questionnaire filled out by patients and an assessment group (10 orthodontists, 10 oral and maxillofacial (OM) surgeons, 15 laypersons). The study's results show that the largest degree of asymmetry was found in the midface of CLP patients. The vast majority of the patients were dissatisfied with their facial appearance, and patients, experts and laypersons expressed great interest in and a need of correction. We observed tangible incongruence between how the patients perceived their own faces and how others perceived them. Asymmetry, especially in the midface, appears to detract from how facial appearance is self-perceived and perceived by others, which explains the primary desire for or need of nose correction. The self-perception of patients affected by CLP does not correlate with objective results or how others perceive them. Clinicians should be open to adult patients' requests for correction, but the patient's self-perception should also be critically explored.

  2. Comprehensive surgical. Orthodontic treatment of class III malocclusion in cleft patient involving minimally invasive surgery Case report and literature review.

    PubMed

    Stojkovic, Goran; Stojkovic, Miodrag; Stojkovic, Jasna; Nikolic, Dejan; Stajcic, Zoran

    2016-12-19

    Surgical and orthodontic treatment of a teenage cleft patient. Authors describe the case of a 13 year old female cleft patient presented with class III malocclusion RESULT: The patient underwent comprehensive surgical secondary bone grafting and orthodontic treatment. Stable skeletal and occlusal class I relationship was achived and maintained in the post treatment observation period till the age of 16. Although several authors suggests primary gingivoperiosteoplasty, other advocates that such early intervention can cause later restrictions in maxillary growth. For alveolar reconstruction, maxillary growth and dental age were the main considerations in determining the timing of surgical intervention. This case showed that borderline cases of complex dentoalveolar and skeletal anomaly in cleft patients could be successfully treated with comprehensive secondary bone grafting and orthodontic treatment thus avoiding the need for orthognatic surgery. Alveolar bone grafting, Cleft, Malocclusion.

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

    PubMed

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

    2016-11-01

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

  4. Facial nerve conduction after sclerotherapy in children with facial lymphatic malformations: report of two cases.

    PubMed

    Lin, Pei-Jung; Guo, Yuh-Cherng; Lin, Jan-You; Chang, Yu-Tang

    2007-04-01

    Surgical excision is thought to be the standard treatment of choice for lymphatic malformations. However, when the lesions are limited to the face only, surgical scar and facial nerve injury may impair cosmetics and facial expression. Sclerotherapy, an injection of a sclerosing agent directly through the skin into a lesion, is an alternative method. By evaluating facial nerve conduction, we observed the long-term effect of facial lymphatic malformations after intralesional injection of OK-432 and correlated the findings with anatomic outcomes. One 12-year-old boy with a lesion over the right-side preauricular area adjacent to the main trunk of facial nerve and the other 5-year-old boy with a lesion in the left-sided cheek involving the buccinator muscle were enrolled. The follow-up data of more than one year, including clinical appearance, computed tomography (CT) scan and facial nerve evaluation were collected. The facial nerve conduction study was normal in both cases. Blink reflex in both children revealed normal results as well. Complete resolution was noted on outward appearance and CT scan. The neurophysiologic data were compatible with good anatomic and functional outcomes. Our report suggests that the inflammatory reaction of OK-432 did not interfere with adjacent facial nerve conduction.

  5. Transantral distraction devices in correction of severe maxillary deformity in cleft patients.

    PubMed

    Shokirov, Shokhruh; Wangerin, Konrad

    2011-01-01

    Maxillary advancement by Le Fort I osteotomy in cleft patients has an average relapse of about 40-60 percent. With extraoral distraction devices it is possible to obtain an almost unlimited advancement of the upper jaw. Due to the social problems the retention period is normally reduced to some monthes. A relapse of 10-25 % can be seen in these cases. Le Fort I internal distraction osteogenesis offers an alternative to one-step orthognathic advancement, with advantages of gradual lengthening through scar and earlier treatment in growing patients. The objective of this study was to present our experience in the treatment of maxillary deficiency in cleft patients using transantral internal distraction devices. The distraction procedure was successfully accomplished in seventeen patients. For all the seventeen patients maxillary distraction device designed by Konrad Wangerin was used. The distraction distances were 8 to 24 mm. Preoperative, postoperative, and follow-up (12 and 24 months) lateral cephalogram measurements were compared including angular and linear changes. A good new bone was found that was formed in distraction pitch between lines of osteotomy. After distraction of median facial zone, occlusion and profile of soft tissues were considerably improved. All patients after postoperative time required final orthodontic treatment and their final occlusal relationships were satisfactory. The transantral distraction device is a new option for the treatment of severe maxillary hypoplasia in cleft patients.

  6. Cleft Lip and Cleft Palate

    MedlinePlus

    ... to obese women may have increased risk of cleft lip and palate. Males are more likely to have a cleft ... more common in females. In the United States, cleft lip and palate are reportedly most common in Native Americans and ...

  7. Branchial Cleft Anomalies

    PubMed Central

    McPhail, Neil; Mustard, Robert A.

    1966-01-01

    The embryology, anatomy and pathology of branchial cleft anomalies are discussed and 87 cases reviewed. The most frequent anomaly was branchial cleft cyst, of which there were 77 cases. Treatment in all cases consisted of complete excision. There were five cases of external branchial sinus and five cases of complete branchial fistula. Sinograms were helpful in demonstrating these lesions. Excision presented little difficulty. No proved case of branchiogenic carcinoma has been found in the Toronto General Hospital. Five cases are described in which the original diagnosis was branchiogenic carcinoma—in four of these a primary tumour has already been found. The authors believe that the diagnosis of branchiogenic carcinoma should never be accepted until repeated examinations over a period of at least five years have failed to reveal a primary tumour. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5 PMID:5901161

  8. Higher risk of orofacial clefts in children born to mothers with angina pectoris: a population-based case-control study.

    PubMed

    Czeizel, Andrew E; Vereczkey, Attila; Bánhidy, Ferenc

    2015-02-01

    Previously an unexpected association of maternal angina pectoris (MAP) during pregnancy with a higher risk of orofacial clefts in their children was found. There were three objectives of this study: (i) to evaluate the validity of MAP-diagnoses in the previous study and the recent history of mothers with MAP in a follow-up study; (ii) to estimate the prevalence of other congenital abnormalities in the offspring of mothers with MAP; and (iii) to analyze the possible effect of confounders for the risk of orofacial clefts. The large dataset of population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980-1996 was evaluated including 22 843 cases with congenital abnormalities and 38 151 controls without any defect. Twenty-two cases (0.10%) and 12 controls (0.03%) were born to mothers with medically recorded MAP (odds ratio [OR] with 95% confidence interval [CI]: 3.7, 1.8-7.3). Of 22 cases, six had isolated cleft lip ± palate (OR with 95% CI: 13.3, 4.9-35.9) and two were affected with isolated cleft palate (OR with 95% CI: 10.5, 2.3-47.6). The diagnosis of MAP was confirmed in seven women visited at home in 2009-2010, two had recent myocardial infarction and five were smokers. There was no higher risk for other congenital abnormalities. In conclusion the higher risk of orofacial clefts was confirmed in the children of mothers with MAP and smoking may trigger the genetic predisposition of both MAP and orofacial clefts. However, the number of cases was limited and therefore further studies are needed to confirm or reject this theoretically and practically important observation. © 2014 Japanese Teratology Society.

  9. A Challenge to Classical Facial Proportionality Studies: Conventional Profile and 3d Photography Versus Silhouettes

    DTIC Science & Technology

    2012-04-01

    Edler R, Rahim MA, Wertheim D, Greenhill D. The use of facial anthropometrics in aesthetic assessment. Cleft Palate Craniofac J. 2010 Jan;47(1...48-57. Farkas LG, Posnick JC, Hreczko TM. Growth patterns of the Face: A morphopmetric Study. Cleft Palate -Craniofacial Journal. 1992 July; 29 (4...137 x     LIST OF FIGURES Figure 1 Upper lip , lower lip and chin fell along the

  10. Intraparotid Neurofibroma of the Facial Nerve: A Case Report.

    PubMed

    Nofal, Ahmed-Abdel-Fattah; El-Anwar, Mohammad-Waheed

    2016-07-01

    Intraparotid neurofibromas of the facial nerve are extremely rare and mostly associated with neurofibromatosis type 1 (NF1). This is a case of a healthy 40-year-old man, which underwent surgery for a preoperatively diagnosed benign parotid gland lesion. After identification of the facial nerve main trunk, a single large mass (6 x 3 cm) incorporating the upper nerve division was observed. The nerve portion involved in the mass could not be dissected and was inevitably sacrificed with immediate neuroraphy of the upper division of the facial nerve with 6/0 prolene. The final histopathology revealed the presence of a neurofibroma. Complete left side facial nerve paralysis was observed immediately postoperatively but the function of the lower half was returned within 4 months and the upper half was returned after 1 year. Currently, after 3 years of follow up, there are no signs of recurrence and normal facial nerve function is observed. Neurofibroma should be considered as the diagnosis in a patient demonstrating a parotid mass. In cases where it is diagnosed intraoperatively, excision of part of the nerve with the mass will be inevitable though it can be successfully repaired by end to end anastomosis.

  11. Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition.

    PubMed

    Zhang, Charles; Miller, Steven F; Roosenboom, Jasmien; Wehby, George L; Moreno Uribe, Lina M; Hecht, Jacqueline T; Deleyiannis, Frederic W B; Christensen, Kaare; Marazita, Mary L; Weinberg, Seth M

    2018-06-01

    The biological relatives of offspring with nonsyndromic orofacial clefts have been shown to exhibit distinctive facial features, including excess asymmetry, which are hypothesized to indicate the presence of genetic risk factors. The significance of excess soft tissue nasal asymmetry in at-risk relatives is unclear and was examined in the present study. Our sample included 164 unaffected parents from families with a history of orofacial clefting and 243 adult controls. Geometric morphometric methods were used to analyze the coordinates of 15 nasal landmarks collected from three-dimensional facial surface images. Following generalized Procrustes analysis, Procrustes ANOVA and MANOVA tests were applied to determine the type and magnitude of nasal asymmetry present in each group. Group differences in mean nasal asymmetry were also assessed via permutation testing. We found that nasal asymmetry in both parents and controls was directional in nature, although the magnitude of the asymmetry was greater in parents. This was confirmed with permutation testing, where the mean nasal asymmetry was significantly different (p < .0001) between parents and controls. The asymmetry was greatest for midline structures and the nostrils. When subsets of parents were subsequently analyzed and compared (parents with bilateral vs. unilateral offspring; parents with left vs. right unilateral offspring), each group showed a similar pattern of asymmetry and could not be distinguished statistically. Thus, the side of the unilateral cleft (right vs. left) in offspring was not associated with the direction of the nasal asymmetry in parents. © 2018 Wiley Periodicals, Inc.

  12. [Self-esteem in adolescents with and without cleft-lip and/or palate].

    PubMed

    de Andrade, D; Angerami, E L

    2001-01-01

    Self-image is an important determinant of self-esteem among men and women, which makes us reflect about the process of rehabilitation of people with facial malformations. In order to measure self-esteem, the Janis and Field Scale was used. The sample consisted of 608 adolescents aged 17 to 20 years including males and females. Two hundred and thirty-five had a cleft lip and/or palate and 373 did not. The analysis of the self-esteem levels obtained enabled to conclude that the adolescents with a cleft lip and/or palate behave differently from those without it, that is, they present lower self-esteem scores.

  13. Clinical features and management of facial nerve paralysis in children: analysis of 24 cases.

    PubMed

    Cha, H E; Baek, M K; Yoon, J H; Yoon, B K; Kim, M J; Lee, J H

    2010-04-01

    To evaluate the causes, treatment modalities and recovery rate of paediatric facial nerve paralysis. We analysed 24 cases of paediatric facial nerve paralysis diagnosed in the otolaryngology department of Gachon University Gil Medical Center between January 2001 and June 2006. The most common cause was idiopathic palsy (16 cases, 66.7 per cent). The most common degree of facial nerve paralysis on first presentation was House-Brackmann grade IV (15 of 24 cases). All cases were treated with steroids. One of the 24 cases was also treated surgically with facial nerve decompression. Twenty-two cases (91.6 per cent) recovered to House-Brackmann grade I or II over the six-month follow-up period. Facial nerve paralysis in children can generally be successfully treated with conservative measures. However, in cases associated with trauma, radiological investigation is required for further evaluation and treatment.

  14. Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

    PubMed

    Wirtz, Nicholas; Sidman, James; Block, William

    2016-05-01

    Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  15. Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst.

    PubMed

    Uppal, Surabhi; Jee, Youn Hee; Lightbourne, Marissa; Han, Joan C; Stratakis, Constantine A

    2017-01-01

    Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC. We report the first case in the literature of a girl with 48, XXXX and combined pituitary hormone deficiency due to Rathke's cyst.

  16. A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla

    PubMed Central

    Nørholt, Sven Erik; Küseler, Annelise; Jensen, John; Pedersen, Thomas Klit

    2012-01-01

    ABSTRACT Objectives To compare cleft lip and palate patients' satisfaction with aesthetics and functional parameters after conventional advancement of the maxilla or by the use of distraction osteogenesis. Material and methods Case series observational study. Group of distraction osteogenesis (DO) consisted of 15 patients treated with distraction osteogenesis while group conventional (CONV) included 10 patients treated with traditional advancement of the maxilla. Patients were asked to fill out a questionnaire about their subjective evaluation of satisfaction with facial aesthetics and functional parameters on a continuous visual analog-scale (VAS) when the treatment was finished. Results The total response rate was 76%. Preoperatively the two groups did not differ significantly according to group characteristics. At follow-up both groups were satisfied with aesthetics and functional parameters. The DO group was less satisfied with the duration of the treatment than the CONV group. There were no statistically significant differences among the groups regarding functional parameters or facial aesthetics. Conclusions Cleft lip and palate patients experienced a high level of satisfaction with functional parameters and aesthetics as a result of surgical maxillary advancement. The patients treated with distraction osteogenesis were less satisfied with the duration of the treatment. Further studies are needed. PMID:24422010

  17. Cone Beam Computed Tomographic Evaluation of Mandibular Asymmetry in Patients with Cleft Lip and Palate.

    PubMed

    Paknahad, Maryam; Shahidi, Shoaleh; Bahrampour, Ehsan; Beladi, Amir Saied; Khojastepour, Leila

    2018-01-01

    Objective The purpose of the present study was to compare mandibular vertical asymmetry in patients with unilateral and bilateral cleft lip and palate and subjects with normal occlusion. Materials and Methods Cone beam computed tomography scans of three groups consisting of 20 patients with unilateral cleft lip and palate, 20 patients affected by bilateral cleft lip and palate, and a control group of 20 subjects with normal occlusion were analyzed for this study. Condylar, ramal, and condylar plus ramal asymmetry indices were measured for all subjects using the method of Habets et al. Kruskal-Wallis and Mann-Whitney tests were used to determine any significant differences between the groups for all indices at the 95% level of confidence. Results There were no significant differences regarding sex for all mandibular asymmetry indices in all three groups. All Asymmetry indices (condylar, ramal, and condylar plus ramal asymmetry) were significantly higher in the unilateral cleft group compared with the other two groups. Conclusion Cone beam computed tomography images showed that patients with cleft lip and palate suffered from mandibular asymmetry. Subjects with unilateral cleft lip and palate had a more asymmetric mandible compared with the bilateral cleft lip and palate and control groups. Therefore, the mandible appears to be the leading factor in facial asymmetry in subjects with unilateral cleft lip and palate.

  18. Facial growth and development in unilateral cleft lip and palate: comparison between secondary alveolar bone grafting and primary periosteoplasty.

    PubMed

    Cagáňová, Veronika; Borský, Jiří; Smahel, Zbyněk; Velemínská, Jana

    2014-01-01

    To describe the effect of secondary alveolar bone grafting in patients with unilateral cleft lip and palate by comparison with a sample of patients who have undergone primary periosteoplasty. Cephalometric analysis of lateral x-ray films in a retrospective semilongitudinal study. Lateral x-ray films of 18 secondary alveolar bone grafting patients and 48 primary periosteoplasty patients at 10 years of age and again at 15 years of age. The treatment of secondary alveolar bone grafting patients included lip repair according to Tennison, palatoplasty including retropositioning, pharyngeal flap surgery, and secondary alveolar bone grafting. The lips of primary periosteoplasty patient were repaired using the methods of Tennison and Veau, followed by primary periosteoplasty, palatoplasty including retropositioning, and pharyngeal flap surgery. Lateral radiographs were assessed using classical morphometry. There were few significant differences at 10 years of age between the secondary alveolar bone grafting and primary periosteoplasty patients. At 15 years of age, there were several significant differences. Compared with primary periosteoplasty patients, subsequent development in patients who had undergone secondary alveolar bone grafting was characterized by a significantly better position of the upper and lower dentoalveolar components in relation to the facial plane, a higher increase in the global convexity of the soft profile, a significantly better maxillary inclination, and a more favorable development of vertical intermaxillary relationships. Craniofacial development in secondary alveolar bone grafting patients was better than that in primary periosteoplasty patients due to the more marked facial convexity, the increased prominence of the nose, and better vertical intermaxillary relationships.

  19. [Long-term effects and influence on facial structure of palatal distraction].

    PubMed

    Liang, Li-min; Liu, Chun-ming; Xiong, Jun; Hou, Min

    2003-11-01

    The purpose of this study was to evaluate a new palatoplasty with persistent elastic distraction osteogenesis. Twenty mongrel dog aged in 6 month were divided into two groups: the control (n = 10) and the experimental group (n = 10). The cleft palate model was made surgically in experimental dogs. The hard palate clefts were repaired with persistent elastic distraction osteogenesis. Then the animals were observed for an additional 12 weeks before sacrifice. Direct measurements was taken on dry skulls of the dogs and the data were analyzed statistically. For all experimental dogs, the clefts were closed after gradual distraction. No relapse and airway blocking occurred in observational period. There were no significant differences in the variables of facial length, height and width between the two groups (P > 0.05). The length of horizontal portion of hard palate in experimental group was significantly longer than that in the control (P < 0.01). There was no complication and disturbance on maxillofacial structure in repairing cleft palate with persistent elastic distraction osteogenesis. It is an effective and safe technique for repairing cleft palate in animal model.

  20. Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.

    PubMed Central

    Nagai, K; Nagao, M; Nagao, M; Yanai, S; Minagawa, K; Takahashi, Y; Takekoshi, Y; Ishizaka, A; Matsuzono, Y; Kobayashi, O; Itagaki, T

    1998-01-01

    We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of OFDS type IX. Dandy-Walker malformation and retrobulbar cysts were observed on MRI. These additional malformations have not been reported in OFDS type IX. The frequent apnoeic spells which occurred immediately after birth were relieved after cystoperitoneal shunt implantation for hydrocephalus. Considering our case and previous reports of OFDS type IX, including two male sibs, a boy born to consanguineous parents, and three females, inheritance is probably autosomal recessive. Images PMID:9598735

  1. Facial Nerve Schwannoma: A Case Report, Radiological Features and Literature Review.

    PubMed

    Pilloni, Giulia; Mico, Barbara Massa; Altieri, Roberto; Zenga, Francesco; Ducati, Alessandro; Garbossa, Diego; Tartara, Fulvio

    2017-12-22

    Facial nerve schwannoma localized in the middle fossa is a rare lesion. We report a case of a facial nerve schwannoma in a 30-year-old male presenting with facial nerve palsy. Magnetic resonance imaging (MRI) showed a 3 cm diameter tumor of the right middle fossa. The tumor was removed using a sub-temporal approach. Intraoperative monitoring allowed for identification of the facial nerve, so it was not damaged during the surgical excision. Neurological clinical examination at discharge demonstrated moderate facial nerve improvement (Grade III House-Brackmann).

  2. Dissociation between facial and bodily expressions in emotion recognition: A case study.

    PubMed

    Leiva, Samanta; Margulis, Laura; Micciulli, Andrea; Ferreres, Aldo

    2017-12-21

    Existing single-case studies have reported deficit in recognizing basic emotions through facial expression and unaffected performance with body expressions, but not the opposite pattern. The aim of this paper is to present a case study with impaired emotion recognition through body expressions and intact performance with facial expressions. In this single-case study we assessed a 30-year-old patient with autism spectrum disorder, without intellectual disability, and a healthy control group (n = 30) with four tasks of basic and complex emotion recognition through face and body movements, and two non-emotional control tasks. To analyze the dissociation between facial and body expressions, we used Crawford and Garthwaite's operational criteria, and we compared the patient and the control group performance with a modified one-tailed t-test designed specifically for single-case studies. There were no statistically significant differences between the patient's and the control group's performances on the non-emotional body movement task or the facial perception task. For both kinds of emotions (basic and complex) when the patient's performance was compared to the control group's, statistically significant differences were only observed for the recognition of body expressions. There were no significant differences between the patient's and the control group's correct answers for emotional facial stimuli. Our results showed a profile of impaired emotion recognition through body expressions and intact performance with facial expressions. This is the first case study that describes the existence of this kind of dissociation pattern between facial and body expressions of basic and complex emotions.

  3. Facial nerve palsy: analysis of cases reported in children in a suburban hospital in Nigeria.

    PubMed

    Folayan, M O; Arobieke, R I; Eziyi, E; Oyetola, E O; Elusiyan, J

    2014-01-01

    The study describes the epidemiology, treatment, and treatment outcomes of the 10 cases of facial nerve palsy seen in children managed at the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife over a 10 year period. It also compares findings with report from developed countries. This was a retrospective cohort review of pediatric cases of facial nerve palsy encountered in all the clinics run by specialists in the above named hospital. A diagnosis of facial palsy was based on International Classification of Diseases, Ninth Revision, Clinical Modification codes. Information retrieved from the case note included sex, age, number of days with lesion prior to presentation in the clinic, diagnosis, treatment, treatment outcome, and referral clinic. Only 10 cases of facial nerve palsy were diagnosed in the institution during the study period. Prevalence of facial nerve palsy in this hospital was 0.01%. The lesion more commonly affected males and the right side of the face. All cases were associated with infections: Mainly mumps (70% of cases). Case management include the use of steroids and eye pads for cases that presented within 7 days; and steroids, eye pad, and physical therapy for cases that presented later. All cases of facial nerve palsy associated with mumps and malaria infection fully recovered. The two cases of facial nerve palsy associated with otitis media only partially recovered. Facial nerve palsy in pediatric patients is more commonly associated with mumps in the study environment. Successes are recorded with steroid therapy.

  4. Preoperative evaluation of micro-organisms in non-operated cleft in soft palate: impact on use of antibiotics.

    PubMed

    Roode, G J; Bütow, K-W; Naidoo, S

    2017-02-01

    To identify the pathogenic micro-organisms that had colonised preoperatively in clefts in the soft palate and oro-nasopharynx, we retrospectively studied the preoperative microbiological profiles of 200 infants who had had primary repair of all types of cleft in the soft palate. Data from a private practice that specialises in the repair of facial clefts were extracted randomly from patients' files. We analysed the results of the culture of preoperative swabs taken from clefts in the soft palate and oro-nasopharynx, and the resistance profile of organisms towards various antibiotics. A total of 23 different pathogenic micro-organisms were isolated from 115 (57%) of the sample. Klebsiella pneumoniae most commonly colonised clefts in the lip, alveolus, and palate. This was considerably higher than in other groups. The second most common micro-organism was Staphylococcus aureus, which was found most often in patients with isolated clefts in the hard palate. Those with complete cleft lip and palate presented with more pathogenic micro-organisms in preoperative cultures than those with other types of cleft. We need to find a way to control pathogenic micro-organisms in the oral and oro-nasopharyngeal region preoperatively to limit postoperative complications. Copyright © 2016 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  5. Middle ear osteoma causing progressive facial nerve weakness: a case report.

    PubMed

    Curtis, Kate; Bance, Manohar; Carter, Michael; Hong, Paul

    2014-09-18

    Facial nerve weakness is most commonly due to Bell's palsy or cerebrovascular accidents. Rarely, middle ear tumor presents with facial nerve dysfunction. We report a very unusual case of middle ear osteoma in a 49-year-old Caucasian woman causing progressive facial nerve deficit. A subtle middle ear lesion was observed on otoscopy and computed tomographic images demonstrated an osseous middle ear tumor. Complete surgical excision resulted in the partial recovery of facial nerve function. Facial nerve dysfunction is rarely caused by middle ear tumors. The weakness is typically due to a compressive effect on the middle ear portion of the facial nerve. Early recognition is crucial since removal of these lesions may lead to the recuperation of facial nerve function.

  6. Neonatal peripheral facial paralysis' evaluation with photogrammetry: A case report.

    PubMed

    da Fonseca Filho, Gentil Gomes; de Medeiros Cirne, Gabriele Natane; Cacho, Roberta Oliveira; de Souza, Jane Carla; Nagem, Danilo; Cacho, Enio Walker Azevedo; Moran, Cristiane Aparecida; Abreu, Bruna; Pereira, Silvana Alves

    2015-12-01

    Facial paralysis in newborns can leave functional sequelae. Determining the evolution and amount of functional losses requires consistent evaluation methods that measure, quantitatively, the evolution of clinical functionality. This paper reports an innovative method of facial assessment for the case of a child 28 days of age with unilateral facial paralysis. The child had difficulty breast feeding, and quickly responded to the physical therapy treatment. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  7. 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.

  8. Cleft palate caused by congenital teratoma.

    PubMed

    Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

    2017-02-01

    A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

  9. Speech characteristics after articulation therapy in children with cleft palate and velopharyngeal dysfunction - A single case experimental design.

    PubMed

    Derakhshandeh, Fatemeh; Nikmaram, Mohammadreza; Hosseinabad, Hedieh Hashemi; Memarzadeh, Mehrdad; Taheri, Masoud; Omrani, Mohammadreza; Jalaie, Shohreh; Bijankhan, Mahmood; Sell, Debbie

    2016-07-01

    The aim of this study was to investigate the impact of an intensive 10-week course of articulation therapy on articulation errors in cleft lip and palate patients who have Velopharyngeal Insufficiency (VPI), non-oral and passive cleft speech characteristics. Five children with cleft palate (+/-cleft lip) with VPI and non-oral and passive cleft speech characteristics underwent 40 intensive articulation therapies over 10 weeks in a single case experimental design. The percentage of non-oral CSCs (NCSCs), passive CSCs (PCSCs), stimulable consonants (SC), correct consonants in word imitation (CCI), and correct consonants in picture naming (CCN) were captured at baseline, during intervention and in follow up phases. Visual analysis and two effect size indexes of Percentage of Nonoverlapping Data and Percentage of Improvement Rate Difference were analyzed. Articulation therapy resulted in visible decrease in NCSCs for all 5 participants across the intervention phases. Intervention was effective in changing percentage of passive CSCs in two different ways; it reduced the PCSCs in three cases and resulted in an increase in PCSCs in the other two cases. This was interpreted as intervention having changed the non-oral CSCs to consonants produced within the oral cavity but with passive characteristics affecting manner of production including weakness, nasalized plosives and nasal realizations of plosives and fricatives. Percent SC increased throughout the intervention period in all five patients. All participants demonstrated an increase in percentage of CCI and CCN suggesting an increase in the consonant inventory. Follow-up data showed that all the subjects were able to maintain their ability to articulate learned phonemes correctly even after a 4-week break from intervention. This single case experimental study supports the hypothesis that speech intervention in patients with VPI can result in an improvement in oral placements and passive CSCs. Copyright © 2016 Elsevier

  10. Tobacco smoking and oral clefts: a meta-analysis.

    PubMed Central

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

    2004-01-01

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

  11. Laterality of Oral Clefts and Academic Achievement.

    PubMed

    Gallagher, Emily R; Collett, Brent R; Barron, Sheila; Romitti, Paul; Ansley, Timothy; Wehby, George L

    2017-02-01

    Children with isolated oral clefts have lower academic performance when compared with unaffected peers, yet few studies have examined specific attributes of clefts that may modify this risk. Oral clefts have nonrandom laterality, with left-sided clefts being more common than right-sided clefts, a pattern that may be genetically or environmentally influenced. The objective of this study was to evaluate the association between cleft laterality and academic achievement in a population-based sample of children with and without isolated oral clefts. The study included 292 children with isolated unilateral cleft lip with or without cleft palate identified by using the Iowa Registry for Congenital and Inherited Disorders matched with 908 unaffected classmates. This group provided 1953 child-grade observations for cases and 6829 for classmates. Academic achievement was evaluated by using high-quality standardized test data on multiple academic domains as well as use of special education. We found that children with right-sided clefts had similar achievement scores and usage of special education services compared with their unaffected classmates. Children with left-sided clefts had lower reading scores than children with right-sided clefts by nearly 7 percentiles (P < .05). They also had lower scores on all evaluated domains by 4 to 6 percentiles and greater use of special education services by 6 percentage points than their classmates. Children with left-sided clefts had poorer academic performance than their classmates or children with right-sided clefts, who showed similar academic achievement compared with their unaffected classmates. Copyright © 2017 by the American Academy of Pediatrics.

  12. Incidence of cleft pathology in Greater New Orleans before and after Hurricane Katrina.

    PubMed

    Goenjian, Haig A; Chiu, Ernest S; Alexander, Mary Ellen; St Hilaire, Hugo; Moses, Michael

    2011-11-01

    Reports after the 2005 Hurricane Katrina have documented an increase in stress reactions and environmental teratogens (arsenic, mold, alcohol). To assess the incidence of cleft pathology before and after the hurricane, and the distribution of cleft cases by gender and race. Retrospective chart review of cleft lip with or without cleft palate (CL/P) and cleft palate (CP) cases registered with the Cleft and Craniofacial Team at Children's Hospital of New Orleans, the surgical center that treated cleft cases in Greater New Orleans between 2004 and 2007. Live birth data were obtained from the Louisiana State Center for Health Statistics. The incidence of cleft cases, beginning 9 months after the hurricane (i.e., June 1, 2006) was significantly higher compared with the period before the hurricane (0.80 versus 1.42; p = .008). Within racial group comparisons showed a higher incidence among African Americans versus whites (0.42 versus 1.22; p = .01). The distribution of CL/P and CP cases by gender was significant (p = .05). The increase in the incidence of cleft cases after the hurricane may be attributable to increased stress and teratogenic factors associated with the hurricane. The increase among African Americans may have been due to comparatively higher exposure to environmental risk factors. These findings warrant further investigation to replicate the results elsewhere in the Gulf to determine whether there is a causal relationship between environmental risk factors and increased cleft pathology.

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

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

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

    1994-09-01

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

  14. 3-D shape analysis of palatal surface in patients with unilateral complete cleft lip and palate.

    PubMed

    Rusková, Hana; Bejdová, Sárka; Peterka, Miroslav; Krajíček, Václav; Velemínská, Jana

    2014-07-01

    Facial development of patients with unilateral complete cleft lip and palate (UCLP) is associated with many problems including deformity of the palate. The aim of this study was to evaluate palatal morphology and variability in patients with UCLP compared with Czech norms using methods of geometric morphometrics. The study was based on virtual dental cast analysis of 29 UCLP patients and 29 control individuals at the age of 15 years. The variability of palatal shape in UCLP patients was greater than that in nonclefted palates. Only 24% of clefted palates fell within the variability of controls. The palatal form of UCLP patients (range from 11.8 to 17.2 years) was not correlated with age. Compared with control palates, palates of UCLP patients were narrower, more anteriorly than posteriorly. Apart from the praemaxilla region, they were also shallower, and the difference increased posteriorly. The UCLP palate was characterised by the asymmetry of its vault. The maximum height of the palatal vault was anterior on the clefted side, whereas it was posterior on the nonclefted side. The slope of the UCLP palate was more inclined compared with the control group. The praemaxilla was therefore situated more inferiorly. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

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

    PubMed Central

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

    2009-01-01

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

  16. Facial nerve hemangioma: a rare case involving the vertical segment.

    PubMed

    Ahmadi, Neda; Newkirk, Kenneth; Kim, H Jeffrey

    2013-02-01

    This case report and literature review reports on a rare case of facial nerve hemangioma (FNH) involving the vertical facial nerve (FN) segment, and discusses the clinical presentation, imaging, pathogenesis, and management of these rare lesions. A 53-year-old male presented with a 10-year history of right hemifacial twitching and progressive facial paresis (House-Brackmann grading score V/VI). The computed tomography and magnetic resonance imaging studies confirmed an expansile lesion along the vertical FN segment. Excision and histopathologic examination demonstrated FNH. FNHs involving the vertical FN segment are extremely rare. Despite being rare lesions, we believe that familiarity with the presentation and management of FNHs are imperative. Laryngoscope, 2012. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

  17. Velo-Cardio-Facial Syndrome: 30 Years of Study

    PubMed Central

    Shprintzen, Robert J.

    2009-01-01

    Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velo-cardio-facial syndrome do not develop psychosis, the risk

  18. Bell's palsy and partial hypoglossal to facial nerve transfer: Case presentation and literature review

    PubMed Central

    Socolovsky, Mariano; Páez, Miguel Domínguez; Masi, Gilda Di; Molina, Gonzalo; Fernández, Eduardo

    2012-01-01

    Background: Idiopathic facial nerve palsy (Bell's palsy) is a very common condition that affects active population. Despite its generally benign course, a minority of patients can remain with permanent and severe sequelae, including facial palsy or dyskinesia. Hypoglossal to facial nerve anastomosis is rarely used to reinnervate the mimic muscle in these patients. In this paper, we present a case where a direct partial hypoglossal to facial nerve transfer was used to reinnervate the upper and lower face. We also discuss the indications of this procedure. Case Description: A 53-year-old woman presenting a spontaneous complete (House and Brackmann grade 6) facial palsy on her left side showed no improvement after 13 months of conservative treatment. Electromyography (EMG) showed complete denervation of the mimic muscles. A direct partial hypoglossal to facial nerve anastomosis was performed, including dissection of the facial nerve at the fallopian canal. One year after the procedure, the patient showed House and Brackmann grade 3 function in her affected face. Conclusions: Partial hypoglossal–facial anastomosis with intratemporal drilling of the facial nerve is a viable technique in the rare cases in which severe Bell's palsy does not recover spontaneously. Only carefully selected patients can really benefit from this technique. PMID:22574255

  19. An undescribed first branchial cleft anomaly.

    PubMed

    Rockey, Jason Gabriel; John, D Gareth; Herbetko, John

    2003-06-01

    A variant of a type 2 first branchial cleft anomaly, in which accessory ossicles were found, is described. There follows a discussion of the classification of first branchial cleft abnormalities and how this particular case falls outside the standard classification. CT scanning is mentioned as the investigation that is most useful for defining these abnormalities.

  20. Facial neuropathy with imaging enhancement of the facial nerve: a case report

    PubMed Central

    Mumtaz, Sehreen; Jensen, Matthew B

    2014-01-01

    A young women developed unilateral facial neuropathy 2 weeks after a motor vehicle collision involving fractures of the skull and mandible. MRI showed contrast enhancement of the facial nerve. We review the literature describing facial neuropathy after trauma and facial nerve enhancement patterns with different causes of facial neuropathy. PMID:25574155

  1. Nasal changes with nasoalveolar molding in Colombian patients with unilateral cleft lip and palate.

    PubMed

    López-Palacio, Ana María; Cerón-Zapata, Ana María; Gómez, David F; Dávila-Calle, Angela P; Ojalvo-Arias, María Adelaida

    2012-01-01

    Presurgical nasoalveolar molding (PNAM) is controversial in maxillofacial orthopedics. It supposedly improves the nasal esthetics and function in unilateral cleft lip/palate (UCLP) patients. However, there is no research available in South America to support this claim. The purpose of this study was to evaluate the efficacy of presurgical nasoalveolar molding therapy on morphological changes of the noses of unilateral cleft lip/palate patients in a Colombian sample. Seventeen neonate UCLP patients using PNAM received facial impressions at the beginning of treatment; before primary rhinocheiloplasty; and before palatoplasty. A submentovertex photograph of each cast was taken and analyzed by digital photogrammetry. Wilcoxon and Friedman tests were used for within- and between-group comparisons. A statistically significant reduction of cleft nostril width, without significant changes in noncleft nostril width or total nasal width, was found after PNAM. A significant increase in cleft and noncleft nostril height, plus a nonsignificant increase in nostril area in both sides and a nonsignificant uprighting of the columella were found. These changes were maintained or further improved after rhinocheiloplasty. The presurgical nasoalveolar molding technique improved nasal tip projection and alar cartilage depression and decreased partially columella deviation before rhinocheiloplasty in South American unilateral cleft lip/palate patients.

  2. Critical analysis of consecutive unilateral cleft lip repairs: determining ideal sample size.

    PubMed

    Power, Stephanie M; Matic, Damir B

    2013-03-01

    Objective : Cleft surgeons often show 10 consecutive lip repairs to reduce presentation bias, however the validity remains unknown. The purpose of this study is to determine the number of consecutive cases that represent average outcomes. Secondary objectives are to determine if outcomes correlate with cleft severity and to calculate interrater reliability. Design : Consecutive preoperative and 2-year postoperative photographs of the unilateral cleft lip-nose complex were randomized and evaluated by cleft surgeons. Parametric analysis was performed according to chronologic, consecutive order. The mean standard deviation over all raters enabled calculation of expected 95% confidence intervals around a mean tested for various sample sizes. Setting : Meeting of the American Cleft Palate-Craniofacial Association in 2009. Patients, Participants : Ten senior cleft surgeons evaluated 39 consecutive lip repairs. Main Outcome Measures : Preoperative severity and postoperative outcomes were evaluated using descriptive and quantitative scales. Results : Intraclass correlation coefficients for cleft severity and postoperative evaluations were 0.65 and 0.21, respectively. Outcomes did not correlate with cleft severity (P  =  .28). Calculations for 10 consecutive cases demonstrated wide 95% confidence intervals, spanning two points on both postoperative grading scales. Ninety-five percent confidence intervals narrowed within one qualitative grade (±0.30) and one point (±0.50) on the 10-point scale for 27 consecutive cases. Conclusions : Larger numbers of consecutive cases (n > 27) are increasingly representative of average results, but less practical in presentation format. Ten consecutive cases lack statistical support. Cleft surgeons showed low interrater reliability for postoperative assessments, which may reflect personal bias when evaluating another surgeon's results.

  3. Cleft palate repair with the use of osmotic expanders: a preliminary report.

    PubMed

    Kobus, Kazimierz F

    2007-01-01

    A new method of cleft palate repair by expansion of tissue by means of osmotic expanders implanted in the first stage of treatment is described. Self-expanding expanders manufactured by OSMED (Ilmenau, Germany) were implanted under the mucoperiosteal layer of the hard palate, on purpose to generate more tissue and provide facility for palate repair performed 24-48h later. Nineteen children aged from 2 to 3 years were operated from January 2004 to 15 April 2005. In clefts<10mm, tissue repair was possible without relaxing incisions. In 11 patients with clefts>10mm, cleft palate repair was more difficult and the outcomes were less favourable. Despite more generous dissection of the neurovascular bundles and other adjunctive measures such as mucosal V-Y plasty [Bardach J, Salyer K. Surgical techniques in cleft lip and palate. Chicago, London: Year Book Medical Publishers, Inc.; 1987.] and suturing of the mucosal grafts at the border of the hard and soft palate, seven 2-4mm fistulae were noted, however. Concluding, in spite of some shortcomings and unacceptable rate of fistula in wide clefts, the above-presented method seems to be an attractive concept. Despite some technical problems related mostly to still tested optimal filling phase, tissue expansion makes palate repair easier, probably without relaxing incisions and bone denudation. Consequently, some adverse effects on facial growth may be reduced. So far, there is no evidence for it, however, and since this is a preliminary report, there is a need for longer observations and larger material.

  4. Special distraction osteogenesis before bone grafting for alveolar cleft defects to correct maxillary deformities in patients with bilateral cleft lips and palates: distraction osteogenesis performed separately for each bone segment.

    PubMed

    Mitsukawa, Nobuyuki; Saiga, Atsuomi; Morishita, Tadashi; Satoh, Kaneshige

    2014-07-01

    Patients with bilateral cleft lips and palates have premaxillary protrusion and characteristic jaw deformities involving three-dimensional malposition of the premaxilla and bilateral maxillary bone segments. This study examined patients with bilateral cleft lips and palates who had deviation and hypoplasia of the premaxillas and bilateral maxillary segments. Before bone grafting, the patients were treated with special distraction performed separately for each bone segment using a halo-type external device. This report describes this novel treatment method which produced good results. The subjects were five patients with severe jaw deformities due to bilateral cleft lip and palate. They were treated with maxillary Le Fort I osteotomy and subsequent distraction performed separately for each bone segment using a halo device. In three of five patients, premaxillary osteotomy was not performed, and osteotomy and distraction were performed only for the right and left lateral segments with severe hypoplasia. All patients achieved distraction close to the desired amount. The widths of the alveolar clefts were narrowed, and satisfactory occlusion and maxillary arch form were achieved. After the surgery, three of five patients underwent bone grafting for bilateral alveolar cleft defects and the bone graft survival was satisfactory. This method had many benefits, including narrowing of alveolar clefts, improvement of maxillary hypoplasia, and achievement of a good maxillary arch form. In addition, subsequent bone grafting for alveolar cleft defects was beneficial, dental prostheses were unnecessary, and frequency of surgery and surgical invasiveness were reduced. This method is a good surgical procedure that should be considered for patients with bilateral cleft lips and palates who have premaxillary protrusion and hypoplasia of the right and left lateral segments. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights

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

    PubMed

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

    2008-09-15

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

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

    PubMed

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

    2016-10-01

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

  7. Current surgical practices in cleft care: cleft palate repair techniques and postoperative care.

    PubMed

    Katzel, Evan B; Basile, Patrick; Koltz, Peter F; Marcus, Jeffrey R; Girotto, John A

    2009-09-01

    The purpose of this study was to objectively report practices commonly used in cleft palate repair in the United States. This study investigates current surgical techniques, postoperative care, and complication rates for cleft palate repair surgery. All 803 surgeon members of the American Cleft Palate-Craniofacial Association were sent online and/or paper surveys inquiring about their management of cleft palate patients. Three-hundred six surveys were received, a 38 percent response rate. This represented responses of surgeons from 100 percent of American Cleft Palate-Craniofacial Association registered cleft teams. Ninety-six percent of respondents perform a one-stage repair. Eighty-five percent of surgeons perform palate surgery when the patient is between 6 and 12 months of age. The most common one-stage repair techniques are the Bardach style (two flaps) with intravelar veloplasty and the Furlow palatoplasty. After surgery, 39 percent of surgeons discharge patients within 24 hours. Another 43 percent discharge patients within 48 hours. During postoperative management, 92 percent of respondents implement feeding restrictions. Eighty-five percent of physicians use arm restraints. Surgeons' self-reported complications rates are minimal: 54 percent report a fistula in less than 5 percent of cases. The reported need for secondary speech surgery varies widely. The majority of respondents repair clefts in one stage. The most frequently used repair techniques are the Furlow palatoplasty and the Bardach style with intravelar veloplasty. After surgery, the majority of surgeons discharge patients in 1 or 2 days, and nearly all surgeons implement feeding restrictions and the use of arm restraints. The varying feeding protocols are reviewed in this article.

  8. Torsion of partial cleft of ear lobule.

    PubMed

    Kumaraswamy, M; Waiker, Veena P

    2014-02-01

    Torsion is a well-known phenomenon involving organs with long mesentery. Torsion in the ear lobule is rare. Ear lobule is very well vascularized. In cases of partial cleft ear lobule, there is a small segment of lobule inferior to the cleft which is vascularized through the pedicles on either side of the cleft. A lady aged 89 years presented with discoloration of the ear lobule. She was diagnosed as having gangrene of the central part of lobule. The segment of the lobule had undergone more than 360° torsion. She underwent debridement of gangrenous part and lobuloplasty. In our case laxity of the stretched lobule caused the torsion of the segment followed by gangrene. This rare complication indicates the need for correction of the cleft lobule not only for esthetic purpose, but also for the prevention of torsion. Copyright © 2013 Tissue Viability Society. Published by Elsevier Ltd. All rights reserved.

  9. Cleft extension and risks of other birth defects in children with isolated cleft palate.

    PubMed

    Chetpakdeechit, Woranuch; Mohlin, Bengt; Persson, Christina; Hagberg, Catharina

    2010-03-01

    To study the risks of having other birth defects in children born with an isolated cleft palate (iCP) when the length of the cleft was taken into account. The hypothesis was that a newborn with an extensive cleft lesion may have an increased risk of other birth defects compared to a child with a less extensive cleft of the palate. All Caucasian children with iCP born between 1975 and 2005 in the southwestern region of Sweden were included. Data were collected from standardized medical records and the length of the cleft was checked on the pre-surgical dental cast for each child. A total of 343 children were born with an iCP. The incidence was 0.64/1000 live births. Thirty-four percent of children with either a total or partial iCP had other birth defects. The risk was 1.7 times higher for a total compared to a partial iCP. The two most common birth defects were congenital heart disease and intellectual disability. Ear problems related to infections were registered in 43% of cases. Fifteen percent of the children had the Pierre Robin sequence, which was analyzed as a separate variable and not included as a birth defect. The length of the iCP was found to influence the risk of having another birth defect as the total palatal clefts were more often combined with other birth defects compared to partial clefts. Careful medical check-ups are important for newborns with iCP since they have increased risks of other birth defects.

  10. Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection.

    PubMed

    Arce-Estrada, Gabriel Emmanuel; Gómez-Toscano, Valeria; Cedillo-Peláez, Carlos; Sesman-Bernal, Ana Luisa; Bosch-Canto, Vanessa; Mayorga-Butrón, José Luis; Vargas-Villavicencio, José Antonio; Correa, Dolores

    2017-07-03

    We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. A two-month-old male had a twin in utero who disappeared between the 7 th and the 14 th week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood. CMV infection was also discarded by PCR and IgM negative results. Structures suggestive of T. gondii pseudocysts were observed in a biopsy taken during the first functional/esthetic surgery. We conclude that this is a rare case of anophthalmia combined with craniofacial cleft due to congenital toxoplasmosis, that must be considered by physicians. This has not been reported before.

  11. Cleft Palate

    PubMed Central

    Kosowski, Tomasz R.; Weathers, William M.; Wolfswinkel, Erik M.; Ridgway, Emily B.

    2012-01-01

    Our understanding of cleft palates has come a long way over the last few decades. A better understanding of the long-term consequences of a cleft palate and its effect on speech development challenges surgeons to not only effectively repair the cleft, but to also restore function of the palate for adequate speech. Coordination with speech pathologists is integral for effective management of cleft palate patients, particularly as children begin to develop language. In this article, the authors review and summarize the various challenges and goals of cleft palate management. PMID:24179449

  12. Cleft Lip and Palate

    MedlinePlus

    ... Safe Videos for Educators Search English Español Cleft Lip and Cleft Palate KidsHealth / For Kids / Cleft Lip and Cleft Palate ... the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a gap or split ...

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

    PubMed

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

    2016-04-01

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

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

    PubMed

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

    2017-06-01

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

  15. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    PubMed Central

    Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

    2016-01-01

    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

  16. Cleft palate - resources

    MedlinePlus

    Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.org/complications/cleft-lip-and- ...

  17. Sound-induced facial synkinesis following facial nerve paralysis.

    PubMed

    Ma, Ming-San; van der Hoeven, Johannes H; Nicolai, Jean-Philippe A; Meek, Marcel F

    2009-08-01

    Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two cases of sound-induced facial synkinesis (SFS) after facial nerve injury. As far as we know, this phenomenon has not been described in the English literature before. Patient A presented with right hemifacial palsy after lesion of the facial nerve due to skull base fracture. He reported involuntary muscle activity at the right corner of the mouth, specifically on hearing ringing keys. Patient B suffered from left hemifacial palsy following otitis media and developed involuntary muscle contraction in the facial musculature specifically on hearing clapping hands or a trumpet sound. Both patients were evaluated by means of video, audio and EMG analysis. Possible mechanisms in the pathophysiology of SFS are postulated and therapeutic options are discussed.

  18. First branchial cleft fistula presenting with internal opening on the Eustachian tube: Illustrated cases and literature review.

    PubMed

    Liu, Yuhe; Li, Tiancheng; Xue, Junfang; Jia, Jun; Xiao, Shuifang; Zhao, Enmin

    2012-05-01

    Two cases of first branchial cleft fistula with internal opening on the Eustachian tube are reported and the diagnosis, management and embryological hypothesis are discussed. Retrospective study and review of the literature. Both patients were young boys with first branchial cleft anomaly clearly identified by computed tomography fistulography scan and direct Methylene Blue dye injection. In both cases, surgical removal revealed a fistula with internal opening located on the Eustachian tube near the nasopharynx. The main embryological theories and classification are reviewed. A connection between the theories of first branchial apparatus development and the classification by Work might explain the reported clinical association. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

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

    PubMed

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

    2016-10-01

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

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

    PubMed Central

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

    2015-01-01

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

  1. Neighborhood Deprivation and Risk of Congenital Heart Defects, Neural Tube Defects and Orofacial Clefts: A Systematic Review and Meta-Analysis

    PubMed Central

    Deguen, Séverine; Kihal, Wahida; Jeanjean, Maxime; Padilla, Cindy; Zmirou-Navier, Denis

    2016-01-01

    Background We conducted this systematic review and meta-analysis to address the open question of a possible association between the socioeconomic level of the neighborhoods in which pregnant women live and the risk of Congenital Heart Defects (CHDs), Neural Tube Defects (NTDs) and OroFacial Clefts (OFCs). Methods We searched MEDLINE from its inception to December 20th, 2015 for case-control, cohort and ecological studies assessing the association between neighborhood socioeconomic level and the risk of CHDs, NTDs and the specific phenotypes Cleft Lip with or without Cleft Palate (CLP) and Cleft Palate (CP). Study-specific risk estimates were pooled according to random-effect and fixed-effect models. Results Out of 245 references, a total of seven case-control studies, two cohort studies and two ecological studies were assessed in the systematic review; all studies were enrolled in the meta-analysis with the exception of the two cohort studies. No significant association has been revealed between CHDs or NTDs and neighborhood deprivation index. For CLP phenotype subgroups, we found a significantly higher rate in deprived neighborhoods (Odds Ratios (OR) = 1.22, 95% CI: 1.10, 1.36) whereas this was not significant for CP phenotype subgroups (OR = 1.20, 95%CI: 0.89, 1.61). Conclusion In spite of the small number of epidemiological studies included in the present literature review, our findings suggest that neighborhood socioeconomic level where mothers live is associated only with an increased risk of CLP phenotype subgroups. This finding has methodological limitations that impede the formulation of firm conclusions, and further investigations should confirm this association. PMID:27783616

  2. [Interdisciplinary orthodontic surgical treatment of children with cleft lip and palate from 9 to 20 years of age].

    PubMed

    Kuijpers-Jagtman, A M; Mink van der Molen, A B; Bierenbroodspot, F; Borstlap, W A

    2015-11-01

    Cleft lip and palate is a common congenital malformation with a prevalence of 1:600 newborns. Children with orofacial clefts are treated by an interdisciplinary team of specialists while parents and child play a key role in their own care process. The orthodontic and facial orthopedic treatment of a child with a cleft takes many years. Children often get bored of the long treatment and this can cause problems with compliance and oral hygiene. Therefore it is advisable to distinguish 5 well-defined stages in the orthodontic treatment and to attempt to have some 'orthodontics free' time in between. The 3 orthodontic treatment phases between the age of 9 and 20 years consist of orthodontic treatment concerning the closing of the cleft with a bone transplant, the treatment of the permanent dentition and, finally, a possible combined orthodontic surgical treatment at the end of the period of growth. Good interdisciplinary collaboration among the different dental disciplines is essential in this regard.

  3. Use of early hard palate closure using a vomer flap in cleft lip and palate patients.

    PubMed

    Smarius, Bram J A; Breugem, Corstiaan C

    2016-08-01

    The aim of the present study was to determine the influence of the vomer flap during cleft palate closure. A retrospective review was performed of all consecutive unilateral/bilateral complete cleft lip and palate (Veau III en IV) children who were treated by a simultaneous lip and hard palate closure using a vomer flap. Data were collected for sex, date of birth, syndrome, adoption, cleft palate type, type of repair, date of cleft repair, cleft width, lateral incisions, fistula and location of fistula. Ninety-one children (M = 62, F 29) were operated. Mean age at time of lip closure and vomer flap was 5.8 months (range 2.9 months to 49.2 months, SD 7.1) and the mean age at palate closure was 13.6 months (range 6.3 months to 79.9 months, SD 10.8). The mean cleft width at first assessment was 13.0 mm (range 7-22 mm) compared to 8.8 mm (range 4-15 mm) at second assessment (mean difference 4.6 mm, 95% CI 3.93-5.35, p < 0.01). One patient developed a fistula (1.1%) and required secondary surgery for closure. The vomer flap leads to a substantial decrease in cleft width, subsequently leading to a low fistula incidence (1.1%). Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  4. 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.

  5. Reliable critical sized defect rodent model for cleft palate research.

    PubMed

    Mostafa, Nesrine Z; Doschak, Michael R; Major, Paul W; Talwar, Reena

    2014-12-01

    Suitable animal models are necessary to test the efficacy of new bone grafting therapies in cleft palate surgery. Rodent models of cleft palate are available but have limitations. This study compared and modified mid-palate cleft (MPC) and alveolar cleft (AC) models to determine the most reliable and reproducible model for bone grafting studies. Published MPC model (9 × 5 × 3 mm(3)) lacked sufficient information for tested rats. Our initial studies utilizing AC model (7 × 4 × 3 mm(3)) in 8 and 16 weeks old Sprague Dawley (SD) rats revealed injury to adjacent structures. After comparing anteroposterior and transverse maxillary dimensions in 16 weeks old SD and Wistar rats, virtual planning was performed to modify MPC and AC defects dimensions, taking the adjacent structures into consideration. Modified MPC (7 × 2.5 × 1 mm(3)) and AC (5 × 2.5 × 1 mm(3)) defects were employed in 16 weeks old Wistar rats and healing was monitored by micro-computed tomography and histology. Maxillary dimensions in SD and Wistar rats were not significantly different. Preoperative virtual planning enhanced postoperative surgical outcomes. Bone healing occurred at defect margin leaving central bone void confirming the critical size nature of the modified MPC and AC defects. Presented modifications for MPC and AC models created clinically relevant and reproducible defects. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  6. Bone morphogenetic protein type I receptor inhibition induces cleft palate associated with micrognathia and cleft lower lip in mice.

    PubMed

    Lai, Yongzhen; Xie, Changfu; Zhang, Shixian; Gan, Guowu; Wu, Di; Chen, Weihui

    2016-07-01

    Gain-of- and loss-of-function studies have demonstrated that changes in bone morphogenetic protein (BMP) signaling during embryo development cause craniofacial malformations, including cleft palate. It remains uncertain whether BMP signaling could be targeted pharmacologically to affect craniofacial morphogenesis. Pregnant C57Bl/6J mice were treated with the BMP type I receptor inhibitor LDN-193189 at the dose of 3, 6, or 9 mg/kg twice a day by intraperitoneal injection from embryonic day 10.5 (E10.5) to E15.5. At E16.5, embryos were investigated by facial measurement analysis and histology to determine the optimal concentration for malformation. Subsequent embryonic phenotypes were analyzed in detail by histology, whole-mount skeletal staining, micro-computed tomography, and palatal organic culture. We further used immunohistochemistry to analyze protein expression of the BMP-mediated canonical and noncanonical signaling components. The optimal concentration of LDN-193189 was determined to be 6 mg/kg. In utero, LDN-193189 exposures induced partial clefting of the anterior palate or complete cleft palate, which was attributed to a reduced cell proliferation rate in the secondary palate, and delayed palatal elevation caused by micrognathia. Analysis of signal transduction in palatal shelves at E12.5 and E13.5 identified a significant reduction of BMP/Smad signaling (p-Smad1/5/8) and unchanged BMP noncanonical signaling (p-p38, p-Erk1/2) after treatment with LDN-193189. The results of this study indicate that LDN-193189 can be used to manipulate BMP signaling by selectively targeting the BMP/Smad signaling pathway to affect palatal morphogenesis and produce phenotypes mimicking those caused by genetic mutations. This work established a novel mouse model for teratogen-induced cleft palate. Birth Defects Research (Part A) 106:612-623, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. Isolated marginal facial nerve paresis after TMJ discopexy: a case report.

    PubMed

    Reychler, H; Mahy, P

    2011-01-01

    Isolated marginal facial nerve paresis after TMJ discopexy: a case report. This is the first report of a transient, isolated marginal facial nerve paresis after temporomandibular joint arthrotomy. The paresis seems to have resulted from a crush lesion by Backhaus forceps, placed transcutaneously during the operation to distract the intra-articular space.

  8. Dental materials for cleft palate repair.

    PubMed

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

    2016-04-01

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

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

    PubMed

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

    2018-01-22

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

  10. Case report: a branchial cleft anomaly presenting as an oropharyngeal mass.

    PubMed

    Mullin, David; Merz, Meredith

    2011-12-01

    Branchial anomalies are common cervical pathologic entities encountered in the field of otolaryngology and are typical in the pediatric and young adult populations. In most cases, these anomalies present as a cyst, sinus, or fistula in a rather stereotypical fashion. When a branchial anomaly deviates from the classic presentation, an improper diagnosis and inadequate management are more likely to occur, leading to an increased recurrence rate. We present a case of a 6-year-old girl with an incidental finding of a right posterior oropharyngeal wall mass, distinctly separate from the tonsillar fossa, which was found on pathologic analysis to be a branchial cleft anomaly. The theories regarding the pathogenesis of branchial anomalies are presented, along with other cases of atypical branchial anomalies.

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-10-01

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

  13. Esthetic composition of smile in individuals with cleft lip, alveolus, and palate: visibility of the periodontium and the esthetics of smile.

    PubMed

    Esper, Luis Augusto; Sbrana, Michyele Cristhiane; Cunha, Mércia Jussara da Silva; Moreira, Guilherme Santos; de Almeida, Ana Lúcia Pompéia Fraga

    2012-01-01

    Objective. To evaluate characteristics of smile related to visibility in individuals with cleft lip, alveolus, and palate. Design. Cross-sectional. Setting. HRAC/USP, Brazil. Patients. Individuals with repaired complete unilateral cleft lip and palate (n = 45), aged 15-30 years. Interventions. Frontal facial photographs were obtained in natural and forced smiles (n = 135). Six specialists in periodontics evaluated the photographs as to the smile line, thickness, and curve of the upper lip. Main Outcome Measures. The cleft area was compared with the contralateral region. Results were expressed as percentages and means. The findings were compared between groups of periodontists. Results. Statistically significant relationship was observed in the smile line between examiners and between natural and forced smiles, regardless of the association with the cleft side. The lip was thicker at rest and thinner in the forced smile, as also evaluated by the group not experienced with cleft care. The curve of the upper lip in natural and forced smiles was considered as close to straight by both groups, regardless of the cleft. Conclusion. The smile in individuals with clefts was regarded as average for both cleft and noncleft sides. The thickness was characterized as average to thin, being thinner in forced smile and when analyzed by the group not experienced with cleft care. In the average, the curve of the upper lip was considered as straight. The present study elucidates some characteristics related to the smile in individuals with repaired unilateral cleft lip, alveolus, and palate.

  14. The role of folate metabolism in orofacial development and clefting

    PubMed Central

    Wahl, Stacey E.; Kennedy, Allyson E.; Wyatt, Brent H.; Moore, Alexander D.; Pridgen, Deborah E.; Cherry, Amanda M.; Mavila, Catherine B.; Dickinson, Amanda J.G.

    2015-01-01

    Folate deficiency has been associated with numerous diseases and birth defects including orofacial defects. However, whether folate has a role in the face during early orofacial development has been unclear. The present study reveals that pharmacological and antisense oligonucleotide mediated inhibition of DHFR, an integral enzyme in the folate pathway, results in specific changes in the size and shape of the midface and embryonic mouth. Such defects are accompanied by a severe reduction in the muscle and cartilage jaw elements without significant change in neural crest pattern or global levels of methylation. We propose that the orofacial defects associated with DHFR deficient function are the result of decreased cell proliferation and increased cell death via DNA damage. In particular, localized apoptosis may also be depleting the cells of the face that express crucial genes for the differentiation of the jaw structures. Folate supplementation is widely known to reduce human risk for orofacial clefts. In the present study, we show that activating folate metabolism can reduce median oral clefts in the primary palate by increasing cell survival. Moreover, we demonstrate that a minor decrease in DHFR function exacerbates median facial clefts caused by RAR inhibition. This work suggests that folate deficiencies could be a major contributing factor to multifactorial orofacial defects. PMID:26144049

  15. [A case of diprosopus in the cat].

    PubMed

    Aharon, D C; Wouda, W; van Weelden, E

    1986-06-15

    A case of diprosopus in a spontaneously delivered live-born kitten is reported. All facial components were completely duplicated. Fusion of the skulls had occurred in the temporal region; a single ear was present at the site of fusion. Additional defects were a cleft lip in one face and cleft palates in both faces. The cerebral hemispheres and arterior portions of the brain stem were completely duplicated, whereas the cerebellum and caudal brain stem were partially duplicated. The pathogenesis and aetiology are discussed. It is believed that disprosopus originates during the (pre)gastrulation stage of embryonic development, either by coalescence of two embryonic fields following a double process of gastrulation or by bifurcation of the axial mesoderm during a single gastrulation.

  16. Extra-facial melasma: clinical, histopathological, and immunohistochemical case-control study.

    PubMed

    Ritter, C G; Fiss, D V C; Borges da Costa, J A T; de Carvalho, R R; Bauermann, G; Cestari, T F

    2013-09-01

    Extra-facial melasma is a prevalent dermatosis in some populations with special characteristics in relation to its clinical aspects and probable etiopathogenic factors. Few studies have attempted to address this alteration of pigmentation, which has become a challenge in clinical Dermatology. To assess the clinical histopathological and immunohistochemical characteristics of extra-facial melasma, comparing affected, and unaffected sites. Case-control study with 45 patients in each group (melasma and disease-free volunteers), assessing their clinical characteristics. In 36 patients, biopsies were performed on the lesion and the normal perilesional skin. Specimens were stained with HE and Fontana-Masson, and melanocytes analysed by immunohistochemistry. Objective measurements were accomplished by a specifically designed image analysis software. The melasma group had a mean age ± SD of 56.67 ± 8 years, the majority of them were women (86.7%) and 82.1% of the female cases had reached menopause. There were no significant differences between groups in terms of presence of comorbidities, use of medications or hormone therapies. For extra-facial melasma patients, family history of this dermatose and of previous facial melasma was significantly higher than in the control group (P < 0.05). The HE staining showed increased rectification and basal hyperpigmentation, solar elastosis, and collagen degeneration in the pigmented area (P < 0.05). There was a significant increase in melanin density in melasma biopsies, but the immunohistochemical tests did not detect a difference between the groups in terms of number of melanocytes. Extra-facial melasma appears to be related to menopause, family history, and personal history of facial melasma, in the studied population. Histopathology revealed a pattern similar to what has been described for facial melasma, with signs of solar degeneration, and a similar number of melanocytes, when comparing patients, and controls, suggesting that

  17. [Double second branchial cleft anomaly].

    PubMed

    Muñoz-Fernández, Noelia; Mallea-Cañizares, Ismael; Fernández-Julián, Enrique; De La Fuente-Arjona, Luís; Marco-Algarra, Jaime

    2011-01-01

    Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made. Copyright © 2009 Elsevier España, S.L. All rights reserved.

  18. Cleft Lip and Palate

    MedlinePlus

    Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

  19. Translation and cultural adaptation of the CLEFT-Q for use in Colombia, Chile, and Spain.

    PubMed

    Tsangaris, Elena; Riff, Karen W Y Wong; Vargas, Federico; Aguilera, Mirta Palomares; Alarcón, Macarena Miranda; Cazalla, Asteria Albert; Thabane, Lehana; Thoma, Achilleas; Klassen, Anne F

    2017-11-28

    Cleft lip and/or palate (CL/P) is a common congenital craniofacial anomaly that may negatively affect an individual's appearance, health-related quality of life, or speech. In Spain, Colombia, and Chile the overall prevalence of CL/P ranges from 0.53 to 1.59 cases per 1000 live births. Currently, there is no patient-reported outcome (PRO) instrument that is specific for patients with CL/P. The CLEFT-Q is a new PRO instrument developed to measure outcomes of treatment in patients 8 to 29 years of age with CL/P. The aim of this study was to translate and culturally adapt the CLEFT-Q for use in Colombia, Chile, and Spain. The CLEFT-Q was translated from English to 3 Spanish language varieties (Colombian, Chilean, and Spanish (Spain)) and Catalan. Translation and cultural adaptation guidelines set forth by the International Society for Pharmacoeconomics and Outcomes Research were followed. The field- test version of the CLEFT-Q consisted of 13 scales (total 154 items) measuring appearance, health-related quality of life, and facial function. Forward translations revealed 10 (7%) items that were difficult to translate into Chilean, and back translations identified 34 (22%) and 21 (13%) items whose meaning differed from the English version in at least 1 of the 3 Spanish varieties and Catalan respectively. Twenty-one participants took part in cognitive debriefing interviews. Participants were recruited from plastic surgery centres in Bogotá, Colombia (n = 4), Santiago, Chile (n = 7), and Barcelona, Spain (n = 10). Most participants were males (n = 14, 67%) and were diagnosed with CL/P (n = 17, 81%). Participants reported difficulty understanding 1 item in the Colombian, 1 item in the Spanish (Spain), and 11 items from the Catalan version. Comparison of the 3 Spanish varieties revealed 61 (40%) of the 154 items whose wording differed across the 3 Spanish versions. Translation and cultural adaptation processes provided evidence of transferability of

  20. Academic Achievement in Children With Oral Clefts Versus Unaffected Siblings

    PubMed Central

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

    2014-01-01

    Objective To compare academic achievement in children with oral-facial clefts (OFC) with their unaffected siblings. Methods 256 children with OFC were identified from the Iowa Registry for Congenital and Inherited Disorders, and 387 unaffected siblings were identified from birth certificates. These data were linked to Iowa Testing Programs achievement data. We compared academic achievement in children with OFC with their unaffected siblings using linear regression models, adjusted for potential confounders. In post hoc analyses, we explored modifiers of siblings’ academic performance. Results Achievement scores were similar between children with OFC and their siblings. Children with cleft palate only were significantly more likely to use special education than their unaffected siblings. Siblings’ academic achievement was inversely related to distance in birth order and age from the affected child. Conclusion Children with OFC and their siblings received similar achievement scores. Younger siblings, in particular, may share a vulnerability to poor academic outcomes. PMID:24993102

  1. Le Fort I distraction using internal devices for maxillary hypoplasia in patients with cleft lip, palate, and alveolus: complications and their prevention and management.

    PubMed

    Mitsukawa, Nobuyuki; Satoh, Kaneshige; Morishita, Tadashi

    2010-09-01

    In recent years, advancement has been made in distraction osteogenesis in the facial area. It has been applied actively to treat maxillary hypoplasia in patients with cleft lip, palate, and alveolus. Le Fort I distraction using internal devices does not lead to disability in daily living, including during the retention period, and has low surgical invasiveness, facile management, and superior aesthetics. Thus, there have been occasional reports on this procedure in recent years. Because an internal device is unidirectional, the greatest disadvantage is the inability to adjust the direction of distraction after its placement. However, past reports have emphasized its advantages, and its complications have rarely been discussed. We performed Le Fort I distraction using internal devices on 15 young patients. Our results showed notable complications in a few cases. When serial cephalometric analysis was performed after maxillary distraction, it demonstrated that the maxilla assumes various three-dimensional distraction morphologies. In particular, cases with insufficient bone grafting of alveolar clefts developed collapse mainly in the alveolar cleft region during postoperative distraction. Mobility and deviation of the maxillary bone fragment occurred. We implemented preventative measures against complications such as using modifications to place the devices parallel on the left and right sides and using a bite splint for distraction. These measures produced improved outcomes, and we describe here the details.

  2. An unusual craniofacial cleft: amniotic band syndrome as a possible cause.

    PubMed

    Eichhorn, Mitchell G; Iacobucci, John J; Turfe, Zaahir

    2015-04-01

    We report the case of a no. 4 Tessier cleft in association with an unknown cleft of the mandible extending to the external auditory meatus. This has not been previously published in the literature and its underlying pathology remains undetermined. The nature of the cleft, possible classifications, and potential embryologic origins will be discussed. Amniotic band syndrome is the most likely cause of the cleft. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Nasal airway and septal variation in unilateral and bilateral cleft lip and palate.

    PubMed

    Starbuck, John M; Friel, Michael T; Ghoneima, Ahmed; Flores, Roberto L; Tholpady, Sunil; Kula, Katherine

    2014-10-01

    Cleft lip and palate (CLP) affects the dentoalveolar and nasolabial facial regions. Internal and external nasal dysmorphology may persist in individuals born with CLP despite surgical interventions. 7-18 year old individuals born with unilateral and bilateral CLP (n = 50) were retrospectively assessed using cone beam computed tomography. Anterior, middle, and posterior nasal airway volumes were measured on each facial side. Septal deviation was measured at the anterior and posterior nasal spine, and the midpoint between these two locations. Data were evaluated using principal components analysis (PCA), multivariate analysis of variance (MANOVA), and post-hoc ANOVA tests. PCA results show partial separation in high dimensional space along PC1 (48.5% variance) based on age groups and partial separation along PC2 (29.8% variance) based on CLP type and septal deviation patterns. MANOVA results indicate that age (P = 0.007) and CLP type (P ≤ 0.001) significantly affect nasal airway volume and septal deviation. ANOVA results indicate that anterior nasal volume is significantly affected by age (P ≤ 0.001), whereas septal deviation patterns are significantly affected by CLP type (P ≤ 0.001). Age and CLP type affect nasal airway volume and septal deviation patterns. Nasal airway volumes tend to be reduced on the clefted sides of the face relative to non-clefted sides of the face. Nasal airway volumes tend to strongly increase with age, whereas septal deviation values tend to increase only slightly with age. These results suggest that functional nasal breathing may be impaired in individuals born with the unilateral and bilateral CLP deformity. © 2014 Wiley Periodicals, Inc.

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

    PubMed

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

    2002-08-01

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

  5. Effects of certain therapeutic factors on facial development in isolated cleft palate.

    PubMed

    Smahel, Z

    1989-01-01

    Roentgencephalometry was used during the investigation of the effects of some therapeutic factors on the growth and development of the jaws in 64 adult males with an isolated cleft palate repaired by pushback. The anterior growth of the maxilla was not related to the age at the time of surgery or to orthodontic therapy with removable appliances. A small number of individuals operated during adolescence had also a shorter depth of the maxilla similarly as patients operated upon during early childhood. Anterior crossbite developed mostly in patients with reduced proclination of the upper alveolar process, while, on the contrary, a retrusion of the maxilla played no essential part. This observation proves useful for the prediction of the development of this malocclusion. The angle of sagittal jaw relations does not represent necessarily a valid criterion of the development of the jaws. In the presence of an overbite retrusion of the maxilla is associated with a retroposition of the mandible and thus the angle of sagittal jaw relations remains unchanged. Thus overbite represents an effective mechanism acting on the position of the mandible. A differentiated approach for the determination of the age of choice at the time of palate surgery according to the type and extent of the cleft is proposed.

  6. Management of an infant with cleft lip and palate with phocomelia in dental practice.

    PubMed

    Muthu, M S

    2000-12-01

    Cleft lip and palate is a severe birth defect occurring approximately one in 800-1000 newborn infants. The incidence varies widely among races. Cleft lip and palate together account for approximately 50% of all cases whereas isolated cleft lip and isolated cleft palate occur in about 25% of cases. Many of these congenital anomalies appear to be genetically determined though the majority are of unknown causes or teratogenic influences. Presented here is a 3 day old infant with bilateral cleft lip and palate and phocomelia for whom a feeding obturator was made and delivered to facilitate feeding.

  7. [The application of facial liposuction and fat grafting in the remodeling of facial contour].

    PubMed

    Wen, Huicai; Ma, Li; Sui, Ynnpeng; Jian, Xueping

    2015-03-01

    To investigate the application of facial liposuction and fat grafting in the remodeling of facial contour. From Nov. 2008 to Mar. 2014, 49 cases received facial liposuction and fat grafting to improve facial contours. Subcutaneous facial liposuction with tumescent technique and chin fat grafting were performed in all the cases, buccal fat pad excision of fat in 7 cases, the masseter injection of botulinum toxin type A in 9 cases, temporal fat grafting in 25 cases, forehead fat grafting in 15 cases. Marked improvement was achieved in all the patients with stable results during the follow-up period of 6 - 24 months. Complications, such as asymmetric, unsmooth and sagging were retreated with acceptance results. Combination application of liposuction and fat grafting can effectively and easily improve the facial contour with low risk.

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

    PubMed

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

    2017-06-01

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

  9. First branchial cleft anomaly: clinical insight into its relevance in otolaryngology with pediatric considerations.

    PubMed

    Maithani, Tripti; Pandey, Apporva; Dey, Debraj; Bhardwaj, Aparna; Singh, V P

    2014-01-01

    First branchial cleft anomalies (FBCA) represent a small subset of congenital malformations in neck. Prime objective of this study is to share our experience with FBCA, emphasize its relevance in otolaryngology and deal with its pediatric perspective. Embryology, pathologic anatomy and varied spectra of clinical presentations of FBCA are discussed. Along with this we have illustrated three different cases; all of them were of pediatric age group and were misdiagnosed by their treating specialists elsewhere. In this article we have also laid special emphasis on its pediatric considerations. FBCA are mostly misdiagnosed due to their unfamiliar clinical signs and symptoms. Swellings may masquerade as other neck masses. Majority of patients give a history of previous incision and drainage. While dealing with pediatric patients the important factors to be kept in mind are the age of child, superficial course of facial nerve, any associated agenesis of parotid gland. Alteration in surgical technique may be required in children. A thorough medical examination with high index of clinical suspicion should be kept in mind while dealing with such anomalies. Owing to their complex presentation and close relation with facial nerve they are challenging lesions for surgeons.

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

    PubMed

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

    2012-11-01

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

  11. A Comparative Analysis of Recombinant Human Bone Morphogenetic Protein-2 with a Demineralized Bone Matrix versus Iliac Crest Bone Graft for Secondary Alveolar Bone Grafts in Patients with Cleft Lip and Palate: Review of 501 Cases.

    PubMed

    Hammoudeh, Jeffrey A; Fahradyan, Artur; Gould, Daniel J; Liang, Fan; Imahiyerobo, Thomas; Urbinelli, Leo; Nguyen, JoAnna T; Magee, William; Yen, Stephen; Urata, Mark M

    2017-08-01

    Alveolar cleft reconstruction using iliac crest bone graft is considered standard of care for children with complete cleft lip and palate at the time of mixed dentition. Harvesting bone may result in donor-site morbidity and additional operating time and length of hospitalization. Recombinant human bone morphogenetic protein (rhBMP)-2 with a demineralized bone matrix is an alternative bone source for alveolar cleft reconstruction. The authors investigated the outcomes of rhBMP-2/demineralized bone matrix versus iliac crest bone graft for alveolar cleft reconstruction by reviewing postoperative surgical complications and cleft closure. A retrospective chart review was conducted for 258 rhBMP-2/demineralized bone matrix procedures (mean follow-up, 2.9 years) and 243 iliac crest bone graft procedures (mean follow-up, 4.1 years) on 414 patients over a 12-year period. The authors compared complications, canine eruption, and alveolar cleft closure between the two groups. In the rhBMP-2/demineralized bone matrix group, one patient required prolonged intubation because of intraoperative airway swelling not thought to be caused by rhBMP-2, 36 reported facial swelling and one required outpatient steroids as treatment, and 12 had dehiscence; however, half of these complications resolved without intervention. Twenty-three of the 228 rhBMP-2/demineralized bone matrix patients and 28 of the 242 iliac crest bone graft patients required repeated surgery for alveolar cleft repair. Findings for canine tooth eruption into the cleft site through the graft were similar between the groups. The rhBMP-2/demineralized bone matrix appears to be an acceptable alternative for alveolar cleft repair. The authors found no increase in serious adverse events with the use of this material. Local complications, such as swelling and minor wound dehiscence, predominantly improved without intervention. Therapeutic, III.

  12. Branchial cleft cyst encircling the hypoglossal nerve

    PubMed Central

    Long, Kristin L.; Spears, Carol; Kenady, Daniel E.

    2013-01-01

    Branchial cleft anomalies are a common cause of lateral neck masses and may present with infection, cyst enlargement or fistulas. They may affect any of the nearby neck structures, causing compressive symptoms or vessel thrombosis. We present a case of a branchial cleft cyst in a 10-year-old boy who had been present for 1year. At the time of operation, the cyst was found to completely envelop the hypoglossal nerve. While reports of hypoglossal nerve palsies due to external compression from cysts are known, we believe this to be the first report of direct nerve involvement by a branchial cleft cyst. PMID:24963902

  13. Esthetic Composition of Smile in Individuals with Cleft Lip, Alveolus, and Palate: Visibility of the Periodontium and the Esthetics of Smile

    PubMed Central

    Esper, Luis Augusto; Sbrana, Michyele Cristhiane; Cunha, Mércia Jussara da Silva; Moreira, Guilherme Santos; de Almeida, Ana Lúcia Pompéia Fraga

    2012-01-01

    Objective. To evaluate characteristics of smile related to visibility in individuals with cleft lip, alveolus, and palate. Design. Cross-sectional. Setting. HRAC/USP, Brazil. Patients. Individuals with repaired complete unilateral cleft lip and palate (n = 45), aged 15–30 years. Interventions. Frontal facial photographs were obtained in natural and forced smiles (n = 135). Six specialists in periodontics evaluated the photographs as to the smile line, thickness, and curve of the upper lip. Main Outcome Measures. The cleft area was compared with the contralateral region. Results were expressed as percentages and means. The findings were compared between groups of periodontists. Results. Statistically significant relationship was observed in the smile line between examiners and between natural and forced smiles, regardless of the association with the cleft side. The lip was thicker at rest and thinner in the forced smile, as also evaluated by the group not experienced with cleft care. The curve of the upper lip in natural and forced smiles was considered as close to straight by both groups, regardless of the cleft. Conclusion. The smile in individuals with clefts was regarded as average for both cleft and noncleft sides. The thickness was characterized as average to thin, being thinner in forced smile and when analyzed by the group not experienced with cleft care. In the average, the curve of the upper lip was considered as straight. The present study elucidates some characteristics related to the smile in individuals with repaired unilateral cleft lip, alveolus, and palate. PMID:23227326

  14. Maxillary hypoplasia in the cleft patient: contribution of orthodontic dental space closure to orthognathic surgery.

    PubMed

    Lee, Justine C; Slack, Ginger C; Walker, Ryann; Graves, Lindsay; Yen, Sandra; Woo, Jessica; Ambaram, Rishal; Martz, Martin G; Kawamoto, Henry K; Bradley, James P

    2014-02-01

    Cleft lip and palate surgery in the developing child is known to be associated with maxillary hypoplasia. However, the effects of nonsurgical manipulations on maxillary growth have not been well investigated. The authors present the contribution of orthodontic dental space closure with canine substitution to maxillary hypoplasia and the need for orthognathic surgery. Cleft lip/palate and cleft palate patients older than 15 years of age were reviewed for dental anomalies, orthodontic canine substitution, and Le Fort I advancement. Skeletal relationships of the maxilla to the skull base (SNA), mandible (ANB), and facial height were determined on lateral cephalograms. Logistic regression analyses were performed to estimate odds ratios. Ninety-five patients were reviewed (mean age, 18.1 years). In 65 patients with congenitally missing teeth, 55 percent with patent dental spaces required Le Fort I advancement. In contrast, 89 percent who underwent canine substitution required Le Fort I advancement (p = 0.004). Canine substitution is associated with a statistically significant increase in maxillary retrognathia when compared with dental space preservation on lateral cephalograms (mean SNA, 75.2 and 79.0, respectively; p = 0.006). Adjusting for missing dentition, logistic regression analyses demonstrated that canine substitution is an independent predictor for orthognathic surgery (OR, 6.47) and maxillary retrusion defined by SNA < 78 (OR, 8.100). The coordination of orthodontia and surgery is essential to cleft care. The authors report a strong association between orthodontic cleft closure using canine substitution with maxillary hypoplasia and subsequent Le Fort I advancement, and suggest systematic criteria for management of cleft-related dental agenesis. Therapeutic, III.

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

    PubMed

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

    2017-12-01

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

  16. Large intraparotid facial nerve schwannoma: case report and review of the literature.

    PubMed

    Salemis, N S; Karameris, A; Gourgiotis, S; Stavrinou, P; Nazos, K; Vlastarakos, P; Tsiambas, E; Tsohataridis, E

    2008-07-01

    Here is reported an extremely rare case of a large intraparotid facial nerve schwannoma in a 32-year-old female who presented with a parotid mass. There had been a long clinical course and sudden onset of facial weakness. Diagnostic evaluation and surgical management are discussed along with a brief review of the literature.

  17. Reconstruction of Nasal Cleft Deformities Using Expanded Forehead Flaps: A Case Series.

    PubMed

    Ramanathan, Manikandhan; Sneha, Pendem; Parameswaran, Ananthnarayanan; Jayakumar, Naveen; Sailer, Hermann F

    2014-12-01

    Reconstruction of the nasal clefts is a challenging task considering the nasal anatomic complexity and their possible association with craniofacial defects. The reconstruction of these defects needs extensive amounts of soft tissue that warrant the use of forehead flaps. Often presence of cranial defects and low hairline compromise the amount of tissue available for reconstruction warrenting tissue expansion. To evaluate the efficacy of tissue expansion in reconstruction of congenital nasal clefts. 9 patients with congenital nasal clefts involving multiple sub units were taken up for nasal reconstruction with expanded forehead flaps. The average amount of expansion needed was 200 ml. The reconstruction was performed in 3 stages. Expanded forehead flaps proved to be best modality for reconstruction providing the skin cover needed for ala, columella and dorsum with minimal scarring at the donor site. Expansion of the forehead flap is a viable option for multiple sub unit reconstruction in congenital nasal cleft deformities.

  18. [Facial nerve neurinomas].

    PubMed

    Sokołowski, Jacek; Bartoszewicz, Robert; Morawski, Krzysztof; Jamróz, Barbara; Niemczyk, Kazimierz

    2013-01-01

    Evaluation of diagnostic, surgical technique, treatment results facial nerve neurinomas and its comparison with literature was the main purpose of this study. Seven cases of patients (2005-2011) with facial nerve schwannomas were included to retrospective analysis in the Department of Otolaryngology, Medical University of Warsaw. All patients were assessed with history of the disease, physical examination, hearing tests, computed tomography and/or magnetic resonance imaging, electronystagmography. Cases were observed in the direction of potential complications and recurrences. Neurinoma of the facial nerve occurred in the vertical segment (n=2), facial nerve geniculum (n=1) and the internal auditory canal (n=4). The symptoms observed in patients were analyzed: facial nerve paresis (n=3), hearing loss (n=2), dizziness (n=1). Magnetic resonance imaging and computed tomography allowed to confirm the presence of the tumor and to assess its staging. Schwannoma of the facial nerve has been surgically removed using the middle fossa approach (n=5) and by antromastoidectomy (n=2). Anatomical continuity of the facial nerve was achieved in 3 cases. In the twelve months after surgery, facial nerve paresis was rated at level II-III° HB. There was no recurrence of the tumor in radiological observation. Facial nerve neurinoma is a rare tumor. Currently surgical techniques allow in most cases, the radical removing of the lesion and reconstruction of the VII nerve function. The rate of recurrence is low. A tumor of the facial nerve should be considered in the differential diagnosis of nerve VII paresis. Copyright © 2013 Polish Otorhinolaryngology - Head and Neck Surgery Society. Published by Elsevier Urban & Partner Sp. z.o.o. All rights reserved.

  19. 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.

  20. Cleft Lip Repair, Nasoalveolar Molding, and Primary Cleft Rhinoplasty.

    PubMed

    Bhuskute, Aditi A; Tollefson, Travis T

    2016-11-01

    Cleft lip and palate are the fourth most common congenital birth defect. Management requires multidisciplinary care owing to the complexity of these clefts on midface growth, dentition, Eustachian tube function, and lip and nasal cosmesis. Repair requires planning, but can be performed systematically to reduce variability of outcomes. The use of primary rhinoplasty at the time of cleft lip repair can improve nose symmetry and reduce nasal deformity. Use of nasoalveolar molding ranging from lip taping to the use of preoperative infant orthopedics has played an important role in improving functional and cosmetic results of cleft lip repair. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    PubMed

    Noor, Siti Noor Fazliah Mohd; Musa, Sabri

    2007-05-01

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

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

    PubMed

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

    2018-01-01

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

  3. Maxillary rehabilitation using a removable partial denture with attachments in a cleft lip and palate patient: a clinical report.

    PubMed

    Palmeiro, Marina Rechden Lobato; Piffer, Caroline Scheeren; Brunetto, Vivian Martins; Maccari, Paulo César; Shinkai, Rosemary Sadami Arai

    2015-04-01

    Clefts of the lip and/or palate (CLP) are oral-facial defects that affect health and overall quality of life. CLP patients often need multidisciplinary treatment to restore oral function and esthetics. This paper describes the oral rehabilitation of a CLP adult patient who had maxillary bone and tooth loss, resulting in decreased occlusal vertical dimension. Functional and cosmetic rehabilitation was achieved using a maxillary removable partial denture (RPD) attached to telescopic crowns. Attachment-retained RPDs may be a cost-effective alternative for oral rehabilitation in challenging cases with substantial loss of oral tissues, especially when treatment with fixed dental prostheses and/or dental implants is not possible. © 2014 by the American College of Prosthodontists.

  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. Nasolabial Morphology Following Nasoalveolar Molding in Infants With Unilateral Cleft Lip and Palate.

    PubMed

    Nur Yilmaz, Rahime Burcu; Germeç Çakan, Derya

    2018-06-01

    The aim of the present study is to evaluate the effects of nasoalveolar molding (NAM) therapy on nasolabial morphology three dimensionally, and compare the nasolabial linear and surface distance measurements in infants with unilateral cleft lip and palate. Facial plaster casts of 42 infants with unilateral cleft lip and palate taken at the onset (pre-NAM) and finishing stage (post-NAM) of NAM were scanned with 3dMDface stereophotogrammetry system (3dMD, Atlanta, GA). Nineteen nasolabial linear and surface distance measurements were performed on three-dimensional images. In addition to standard descriptive statistical calculations (means and SDs), pre- and post-NAM measurements were evaluated by paired t test. All measurements except lip gap, nostril floor width, and nostril diameter increased between pre-NAM and post-NAM. Nostril and lip height increased significantly on the cleft side (P < 0.05). No differences were present between linear and surface distance measurements except for nasal width measurement. Nasal and lip symmetry improved with NAM. The use of surface distance measurements may be advised particularly for continuous and curved anatomic structures in which circumference differences are expected.

  6. A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus

    PubMed Central

    2018-01-01

    Background First branchial cleft anomalies (FBCA) are rare clinical entities of the head and neck. Typically, the tract of the FBCA begins in the external auditory canal and ends in the postauricular or submandibular region. Case Presentation We present a case of a 23-year-old man who had a first branchial cleft fistula with atypical opening on the root of the helical crus. Complete excision of the tract, including the cuff of surrounding cartilage, was performed. Histopathology revealed a fistular tract lined with squamous epithelium. To our knowledge, this is the first case to be reported of type I FBCA with an opening on the root of the helical crus. The low incidence and varied presentation often result in misdiagnosis and inappropriate treatment. Conclusions In the patients with FBCA, careful recognition of atypical variants is essential for complete excision. PMID:29560006

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

    PubMed

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

    2012-01-01

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

  8. Effects of pre-surgical nasoalveolar moulding on maxillary arch and nasal form in unilateral cleft lip and palate before lip surgery.

    PubMed

    Fuchigami, T; Kimura, N; Kibe, T; Tezuka, M; Amir, M S; Suga, H; Takemoto, Y; Hashiguchi, M; Maeda-Iino, A; Nakamura, N

    2017-11-01

    To investigate the effects of pre-surgical nasoalveolar moulding (PNAM) on the maxillary arch and nasal form in patients with unilateral cleft lip and palate (UCLP). This is a retrospective case series study. The subjects were infants with complete UCLP who were treated with PNAM (n = 18) at Kagoshima University Medical and Dental Hospital (Japan) between 2006 and 2013. Maxillary dental casts and facial photographs were taken at the time of the first visit and immediately prior to lip surgery to evaluate the maxillary arch and nasal form changes. The dental casts were scanned with a laser scanner, and changes in the 3-Dimensional coordinates of anatomical landmarks and alveolar cleft width were analysed. Moreover, we investigated the correlation between the changes in the maxillary alveolar arch and nasal form. Regarding the maxillary alveolar arch form, the anterior points of the major segment had moved significantly to the cleft side just prior to the time of lip repair, and the alveolar cleft width was significantly decreased. For nasal form, the inclination and displacement of the columella were significantly improved. The improvement of columella inclination was moderately correlated with the posterior movement of the anterior points of the major segment. These findings indicate that PNAM for infants with UCLP enhanced symmetry in the maxillary alveolar arch and nasolabial form. In addition, the posterior movement of the anterior points of the maxillary alveolar arch was correlated with the improvement of columella deformation. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Spontaneous cleft palate in a newborn gorilla (Gorilla gorilla gorilla).

    PubMed

    Siebert, J R; Williams, B; Collins, D; Winkler, L A; Swindler, D R

    1998-09-01

    We report the first case of cleft palate in a newborn male gorilla (Gorilla gorilla gorilla). The full-term infant was born to clinically healthy, wild-caught parents and survived 5 days. Autopsy disclosed a unilateral cleft palate, moderate scalp hemorrhage (birth versus postnatal trauma), cerebral edema, and a sterile fibrin vegetation in the heart. The palate was also shorter and narrower than expected, and the biorbital breadth was reduced; otherwise, growth and development appeared normal. Standard cranial and intraoral radiographs and three-dimensional reconstructions of computerized tomographic (CT) scans provided thorough and noninvasive methods of studying the craniofacial complex and extracranial skeleton. By this technique, major findings were: intact premaxilla, interpremaxillary, and premaxillary/maxillary sutures; intramaxillary cleft with ipsilateral choanal atresia; mildly asymmetric inferior turbinates; and normal nasal septum and vomer. Except for choanal atresia, cleft palate was not associated with other major craniofacial or extracranial anomalies in this case. Choanal atresia has been observed at times with cleft palate, but to our knowledge, the association has not been reported in nonhuman primates. Cleft palate, with or without cleft lip, has been recognized in a variety of nonhuman primates, including the lemur, marmoset, tamarin, squirrel monkey, and macaque. Some occurrences are spontaneous, while others are syndromic and/or arise from genetic or teratogenic influences. Each mode of presentation is poorly understood in nonhuman primates, but in this case, the absence of relevant environmental or parental history suggests that the occurrence was spontaneous. Anatomic studies of nonhuman primates are particularly valuable when they involve endangered species and will hopefully increase our understanding of the pathogenesis and etiology of congenital disorders, as well as other relationships between nonhuman primates and humans.

  10. [Facial tics and spasms].

    PubMed

    Potgieser, Adriaan R E; van Dijk, J Marc C; Elting, Jan Willem J; de Koning-Tijssen, Marina A J

    2014-01-01

    Facial tics and spasms are socially incapacitating, but effective treatment is often available. The clinical picture is sufficient for distinguishing between the different diseases that cause this affliction.We describe three cases of patients with facial tics or spasms: one case of tics, which are familiar to many physicians; one case of blepharospasms; and one case of hemifacial spasms. We discuss the differential diagnosis and the treatment possibilities for facial tics and spasms. Early diagnosis and treatment is important, because of the associated social incapacitation. Botulin toxin should be considered as a treatment option for facial tics and a curative neurosurgical intervention should be considered for hemifacial spasms.

  11. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.

    PubMed

    Beaty, T H; Taub, M A; Scott, A F; Murray, J C; Marazita, M L; Schwender, H; Parker, M M; Hetmanski, J B; Balakrishnan, P; Mansilla, M A; Mangold, E; Ludwig, K U; Noethen, M M; Rubini, M; Elcioglu, N; Ruczinski, I

    2013-07-01

    A collection of 1,108 case-parent trios ascertained through an isolated, nonsyndromic cleft lip with or without cleft palate (CL/P) was used to replicate the findings from a genome-wide association study (GWAS) conducted by Beaty et al. (Nat Genet 42:525-529, 2010), where four different genes/regions were identified as influencing risk to CL/P. Tagging SNPs for 33 different genes were genotyped (1,269 SNPs). All four of the genes originally identified as showing genome-wide significance (IRF6, ABCA4 and MAF, plus the 8q24 region) were confirmed in this independent sample of trios (who were primarily of European and Southeast Asian ancestry). In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. Meta-analysis between the original GWAS trios and these replication trios showed PAX7, COL8A1/FILIP1L and NTN1 achieved genome-wide significance. Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers (who had a higher rate of smoking than Asian mothers). Formal tests for gene-gene interaction (epistasis) failed to show evidence of statistical interaction in any simple fashion. This study confirms that many different genes influence risk to CL/P.

  12. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study

    PubMed Central

    Beaty, TH; Taub, MA; Scott, AF; Murray, JC; Marazita, ML; Schwender, H; Parker, MM; Hetmanski, JB; Balakrishnan, P; Mansilla, MA; Mangold, E; Ludwig, KU; Noethen, MM; Rubini, M; Elcioglu, N; Ruczinski, I

    2013-01-01

    A collection of 1,108 case-parent trios ascertained through an isolated, non-syndromic cleft lip with or without cleft palate (CL/P) was used to replicate the findings from a genome-wide association study (GWAS) conducted by Beaty et al. (2010) where four different genes/regions were identified as influencing risk to CL/P. Tagging SNPs for 33 different genes were genotyped (1,269 SNPs). All four of the genes originally identified as showing genome-wide significance (IRF6, ABCA4 and MAF, plus the 8q24 region) were confirmed in this independent sample of trios (who were primarily of European and Southeast Asian ancestry). In addition, eight genes classified as ‘second tier’ hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. Meta-analysis between the original GWAS trios and these replication trios showed PAX7, COL8A1/FILIP1L and NTN1 achieved genome-wide significance. Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers (who had a higher rate of smoking than Asian mothers). Formal tests for gene-gene interaction (epistasis) failed to show evidence of statistical interaction in any simple fashion. This study confirms that many different genes influence risk to CL/P. PMID:23512105

  13. An unusual presentation of presentation of a branchial cleft cyst.

    PubMed

    Vemula, Rahul; Greco, Gregory

    2012-05-01

    Branchial cleft cysts are congenital anomalies that arise from the aberrant embryological development of the branchial apparatus. The location of a branchial cleft cyst is determined by which branchial cleft failed to obliterate during embryological development, with the second branchial cleft cyst being the most commonly recognized lesion. Although the most common location for branchial cleft cysts is between the external auditory canal and the level of the clavicle, the literature does describe unusual locations. We present a case a 15-year-old boy who had an enlarging lesion on his back that had been present since birth. A presumptive radiologic diagnosis of lymphangioma circumscriptum was made. Upon excision of the lesion and pathologic examination, it was determined to be a branchial cleft cyst. The patient had an uneventful postoperative course, and no recurrence was noted after a 2-year follow-up. Our clinical report demonstrates a lesion on the posterior thorax that proved to be a branchial cleft cyst and should always be part of the differential diagnosis for soft tissue masses of the thorax.

  14. Dermabrasion and staged excision of facial lesions in a neurofibromatosis case for improvement of facial appearance.

    PubMed

    Karabekmez, Furkan Erol; Duymaz, Ahmet; Karacor, Zeynep

    2013-01-01

    Neurofibromatosis may present with different skin lesions. Disfiguring lesions on the face might be challenging for the surgeon or clinician to correct and may have adverse effects on patients' social lives, especially in young women. To present the dermabrasion technique combined with serial excisions of a deeper accompanying lesion to treat superficial facial lesions in a young neurofibromatosis patient. Dermabrasion was applied to superficial lesions on the face, and staged excision was applied to the deeper lesion located on the forehead. We obtained high patient satisfaction with the result. The deep lesion was excised totally, and superficial lesions were decreased with dermabrasion. Dermabrasion may become a good alternative in cases of neurofibromatosis with superficial facial lesions.

  15. Facial peeling skin syndrome: a case report and a brief review.

    PubMed

    Janjua, Shahbaz Ahmad; Hussain, Ijaz; Khachemoune, Amor

    2007-03-01

    Peeling skin syndrome is an extremely rare genodermatosis of possible autosomal recessive inheritance, characterized by asymptomatic spontaneous exfoliation of the stratum corneum at a subcorneal or intracorneal level. It usually presents at birth or appears later in early childhood. The condition may be generalized or localized. Here we describe a case of localized continual skin peeling limited to the facial skin in a 6-month-old infant, with two other members of the family affected with the same condition. A few cases of localized skin peeling limited to the acral surfaces have been described in the literature, but a familial case of localized skin peeling limited to the facial skin has not been described before. We believe that our patient represents a new subtype of peeling skin syndrome, limited to the skin of the face.

  16. Epithelial and ectomesenchymal role of the type I TGF-β receptor ALK5 during facial morphogenesis and palatal fusion

    PubMed Central

    Dudas, Marek; Kim, Jieun; Li, Wai-Yee; Nagy, Andre; Larsson, Jonas; Karlsson, Stefan; Chai, Yang; Kaartinen, Vesa

    2006-01-01

    Transforming growth factor beta (TGF-β) proteins play important roles in morphogenesis of many craniofacial tissues; however, detailed biological mechanisms of TGF-β action, particularly in vivo, are still poorly understood. Here, we deleted the TGF-β type I receptor gene Alk5 specifically in the embryonic ectodermal and neural crest cell lineages. Failure in signaling via this receptor, either in the epithelium or in the mesenchyme, caused severe craniofacial defects including cleft palate. Moreover, the facial phenotypes of neural crest-specific Alk5 mutants included devastating facial cleft and appeared significantly more severe than the defects seen in corresponding mutants lacking the TGF-β type II receptor (TGFβRII), a prototypical binding partner of ALK5. Our data indicate that ALK5 plays unique, non-redundant cell-autonomous roles during facial development. Remarkable divergence between Tgfbr2 and Alk5 phenotypes, together with our biochemical in vitro data, imply that (1) ALK5 mediates signaling of a diverse set of ligands not limited to the three isoforms of TGF-β, and (2) ALK5 acts also in conjunction with type II receptors other than TGFβRII. PMID:16806156

  17. Third branchial cleft anomaly presenting as a retropharyngeal abscess.

    PubMed

    Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

    2000-08-31

    Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

  18. Clinical and Epidemiologic Description of Orofacial Clefts in Bogota and Cali, Colombia, 2001-2015.

    PubMed

    Sarmiento, K; Valencia, S; Gracia, G; Hurtado-Villa, P; Zarante, I

    2018-04-01

    Among congenital craniofacial anomalies, orofacial clefts (OFCs) are the most common. Global prevalence is 2 in 1000 and in Colombia, 1 in 700. Our goal was to describe cleft palate (CP) prevalence and cleft lip with or without cleft palate (CL±P) from 2001 to 2015 in Bogota and Cali, Colombia. Using the ECLAMC case-control design method, information was obtained from the Congenital Anomalies Monitoring and Surveillance Programs in Bogota and Cali. We describe the prevalence of cases classified into the following groups: isolated, polymalformed, and syndromic. The proportion of cases and controls was 1:4. Data were analyzed using frequency distribution and Student t test to compare means and 95% confidence intervals (CIs). We identified 529 OFC cases and 2116 controls from 448,930 births: a rate of 11.8 per 10,000 (CI = 10.80-12.83). From the total cases, 73% were identified with CL/CP compared to 27% with CP. Males had higher CL±P (59%) prevalence, whereas the highest neonatal mortality was observed among polymalformed cases (7%). The most common anomaly identified among our cases was cleft lip without isolated cleft palate (58%). We found that OFCs are linked to birthweight, size, and gestational age and higher parity with statistically significant differences in all variables compared to controls. OFC is a highly prevalent anomaly in Colombia, with a range of maternal and infant differences across case subgroups. The identification of important OFC subgroups that follow certain patterns of prevalence may prove useful to primary and tertiary care facilities with the goal of reducing further disability.

  19. Facial soft-tissue asymmetry in three-dimensional cone-beam computed tomography images of children with surgically corrected unilateral clefts.

    PubMed

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

    2014-03-01

    Cleft lip with or without cleft palate (CL/P) is a relatively common craniofacial malformation involving bony and soft-tissue disruptions of the nasolabial and dentoalveolar regions. The combination of CL/P and subsequent craniofacial surgeries to close the cleft and improve appearance of the cutaneous upper lip and nose can cause scarring and muscle pull, possibly resulting in soft-tissue depth asymmetries across the face. We tested the hypothesis that tissue depths in children with unilateral CL/P exhibit differences in symmetry across the sides of the face. Twenty-eight tissue depths were measured on cone-beam computed tomography images of children with unilateral CL/P (n = 55), aged 7 to 17 years, using Dolphin software (version 11.5). Significant differences in tissue depth symmetry were found around the cutaneous upper lip and nose in patients with unilateral CL/P.

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

    PubMed

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

    2018-01-01

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

  1. 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.

  2. Assisted eruption of impacted teeth into an alveolar bone graft in a patient with cleft lip and palate.

    PubMed

    Peamkaroonrath, Chonthicha; Manosudprasit, Montien; Godfrey, Keith

    2008-11-01

    To assist the eruption of impacted upper teeth into an alveolar bone graft in a patient with a unilateral cleft lip and palate. An 8-year-old Thai boy with left unilateral complete cleft lip and palate had the chief complaint of anterior crossbite. He presented with a mild skeletal 3, dental Class III subdivision malocclusion, anterior crossbite, left unilateral posterior crossbite, moderate crowding in the upper arch with impaction of upper the left lateral incisor (tooth 22) and canine (tooth 23). In the first phase of treatment the posterior crossbite was corrected with a removable appliance with a 3-way screw. In the second phase the impacted teeth were surgically exposed, moved into the alveolar bone graft and the teeth aligned with fixed appliances. The upper left lateral incisor was extracted because of its questionable longevity. The orthodontic treatment resulted in normal overjet, overbite and an acceptable facial profile. A prosthesis replaced tooth 22. Forced eruption of impacted teeth can be carried out successfully in the cleft patients after an appropriate treatment plan has been formulated and following preparation of alveolar bone graft in the cleft site.

  3. Surgical management of first branchial cleft anomaly presenting as infected retroauricular mass using a microscopic dissection technique.

    PubMed

    Chan, Kai-Chieh; Chao, Wei-Chieh; Wu, Che-Ming

    2012-01-01

    This is a detailed description of the clinical and anatomical presentation of the first branchial cleft anomaly presenting as retroauricular infected mass. Our experience with a microscopic dissection with control of the sinus lumen from within the cyst is also described. Between 2001 and 2008, patients with the final histologic diagnosis of first branchial cleft anomaly in the retroauricular area were managed with a microscopic dissection technique with control of the sinus lumen from within the cyst. Classifications were done in accordance with Work, Olsen, and Chilla. Outcomes measured intervention as a function of disease recurrence and complications including facial nerve function was used. Eight patients with a mean age of 14.2 years were enrolled, and this included 4 females and 4 males. Four type 1 and 4 type 2 lesions as per the Work's and Chilla's classification were found, and there were 5 sinuses, 2 fistulae, and 1 cyst according to Olsen's classification. All patients presented to the department with acute infection at the time of diagnosis. Five of the 8 patients had previous surgical treatment, 2 of those had up to 3 previous operations. None of the patients were complicated by disease recurrence or had surgical related complications (facial nerve paresis or paralysis, infection, canal stenosis) requiring reoperation with more than 1 year of follow-up. First branchial cleft anomaly presenting as retroauricular infected mass can be effectively treated by adopting a microscopic dissection technique with control of the sinus lumen from within the cyst. Copyright © 2012 Elsevier Inc. All rights reserved.

  4. [Surgical treatment in otogenic facial nerve palsy].

    PubMed

    Feng, Guo-Dong; Gao, Zhi-Qiang; Zhai, Meng-Yao; Lü, Wei; Qi, Fang; Jiang, Hong; Zha, Yang; Shen, Peng

    2008-06-01

    To study the character of facial nerve palsy due to four different auris diseases including chronic otitis media, Hunt syndrome, tumor and physical or chemical factors, and to discuss the principles of the surgical management of otogenic facial nerve palsy. The clinical characters of 24 patients with otogenic facial nerve palsy because of the four different auris diseases were retrospectively analyzed, all the cases were performed surgical management from October 1991 to March 2007. Facial nerve function was evaluated with House-Brackmann (HB) grading system. The 24 patients including 10 males and 14 females were analysis, of whom 12 cases due to cholesteatoma, 3 cases due to chronic otitis media, 3 cases due to Hunt syndrome, 2 cases resulted from acute otitis media, 2 cases due to physical or chemical factors and 2 cases due to tumor. All cases were treated with operations included facial nerve decompression, lesion resection with facial nerve decompression and lesion resection without facial nerve decompression, 1 patient's facial nerve was resected because of the tumor. According to HB grade system, I degree recovery was attained in 4 cases, while II degree in 10 cases, III degree in 6 cases, IV degree in 2 cases, V degree in 2 cases and VI degree in 1 case. Removing the lesions completely was the basic factor to the surgery of otogenic facial palsy, moreover, it was important to have facial nerve decompression soon after lesion removal.

  5. COMPREHENSIVE EVALUATIVE TECHNIQUES FOR THE CHILD WITH A CLEFT PALATE.

    ERIC Educational Resources Information Center

    BENSEN, JACK F.; WHITE, FRAZER D.

    A MULTIDISCIPLINARY APPROACH TO CHILDREN WITH CLEFT PALATES IS DESCRIBED. THE SOUTH FLORIDA CLEFT PALATE CLINIC, REPRESENTING NINE PROFESSIONAL SPECIALTIES, MEETS WEEKLY TO SEE SIX OR SEVEN CASES. SPEECH PERFORMANCE IS RECORDED ON SIX DIAGNOSTIC, DATA COLLECTING FORMS WHICH PROVIDE A BASIS FOR RECORDING CLINICAL JUDGMENTS. PROGNOSIS AND…

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

    PubMed

    Abbott, Megan M; Meara, John G

    2010-09-01

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

  7. Two-stage palatoplasty, is it still a valuable treatment protocol for patients with a cleft of lip, alveolus, and palate?

    PubMed

    Gundlach, Karsten K H; Bardach, Janusz; Filippow, Daniel; Stahl-de Castrillon, Franka; Lenz, Jan-Hendrik

    2013-01-01

    Speech development is of utmost importance and requires early closure of a palatal cleft. On the other hand, it is well known that all types and timings of surgical repair of facial clefts are detrimental to maxillary growth. Nevertheless, these days one is more and more confronted with a world-wide tendency in favour of the one-in-all operation to close clefts of the lip, alveolus, and palate. Therefore, a three-centre study was performed for testing - once more - the value of two-stage palatoplasty as a means to reduce the detrimental effects of surgery on palatal growth and at the same time to also enable early speech development. Plaster casts from 85 patients have been re-evaluated. All of them had a complete unilateral cleft of lip, alveolus, and palate. They had been treated according to the old therapy protocols followed in either one of the three different cleft centres many years ago, namely in Hamburg, (Western) Germany, Iowa City, IO, USA, and Rostock, (in those days still Eastern) Germany. The impressions had been taken already in 1987 from patients being either 8 years (36 pts.) or 16 years of age (49 pts.). Three different treatment protocols had been followed for these patients in those centres in those days: The main difference was that in centres A and B the palates were closed in two stages whilst in centre C palatoplasty was performed in just one operation. The most interesting results regarding the palatal growth were that: 1. In centre C (one-stage palatoplasty) the patients had more constricted palates. 2. In centre A (two-stage palatoplasty) the patients had least often an anterior cross-bite. It appears that it was possible to show once more that closing the palate in one stage at age 1 year or less is interfering most with maxillary growth. This study leads us to conclude that two-stage palatoplasty is still a valuable treatment protocol for patients with a complete unilateral cleft of lip, alveolus, and palate, especially as apparently

  8. 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.

  9. Alveolar graft in the cleft lip and palate patient: Review of 104 cases

    PubMed Central

    Tobella-Camps, María L.; Rivera-Baró, Alejandro

    2014-01-01

    Introduction: Alveolar bone grafting is a vital part of the rehabilitation of cleft patients. The factors that have been most frequently associated with the success of the graft are the age at grafting and the pre-grafting orthodontic treatment. Objectives: 1) Describe the cases of alveolar bone grafts performed at the Maxilofacial Unit of Hospital Sant Joan de Déu, Barcelona (HSJD); and 2) Analyze the success/failure of alveolar grafts and related variables. Material and Methods: Descriptive retrospective study using a sample of 104 patients who underwent a secondary alveolar graft at the Craniofacial Unit of HSJD between 1998 and 2012. The graft was done by the same surgeon in all patients using bone from the iliac crest. Results: 70% of the patients underwent the procedure before the age of 15 (median 14.45 years); 70% of the graft patients underwent pre-graft maxillary expansion. A total of 100 cases were recorded as successful (median age of 14.58 years, 68 underwent pre-graft expansion) and only 4 were recorded as failures (median age of 17.62 years, 3 underwent pre-graft expansion). We did not find statistically significant differences in age at the time of grafting or pre-surgical expansion when comparing the success and failure groups. We found the success rate of the graft to be 96.2%. Conclusions: The number of failures was too small to establish a statistically significant conclusion in our sample regarding the age at grafting and pre-grafting expansion. The use of alveolar bone grafting from the iliac crest has a very high success rate with a very low incidence of complications. Existing controversies regarding secondary bone grafting and the wide range of success rates found in the literature suggest that it is necessary to establish a specific treatment protocol that ensures the success of this procedure. Key words:Alveolar graft, cleft lip and palate, alveolar cleft, alveolar defect. PMID:24880440

  10. Cleft Lip and Palate Repair.

    PubMed

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

    2017-11-01

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

  11. Oropharyngeal trauma mimicking a first branchial cleft anomaly.

    PubMed

    Larem, Aisha; Sheikh, Rashid; Al Qahtani, Abdulsalam; Khais, Frat; Ganesan, Shanmugam; Haidar, Hassan

    2016-06-01

    We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224-E226, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

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

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

    Shaw, D.; Field, L.; Ray, A.

    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 themore » 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.« less

  13. Preservation of protein clefts in comparative models.

    PubMed

    Piedra, David; Lois, Sergi; de la Cruz, Xavier

    2008-01-16

    Comparative, or homology, modelling of protein structures is the most widely used prediction method when the target protein has homologues of known structure. Given that the quality of a model may vary greatly, several studies have been devoted to identifying the factors that influence modelling results. These studies usually consider the protein as a whole, and only a few provide a separate discussion of the behaviour of biologically relevant features of the protein. Given the value of the latter for many applications, here we extended previous work by analysing the preservation of native protein clefts in homology models. We chose to examine clefts because of their role in protein function/structure, as they are usually the locus of protein-protein interactions, host the enzymes' active site, or, in the case of protein domains, can also be the locus of domain-domain interactions that lead to the structure of the whole protein. We studied how the largest cleft of a protein varies in comparative models. To this end, we analysed a set of 53507 homology models that cover the whole sequence identity range, with a special emphasis on medium and low similarities. More precisely we examined how cleft quality - measured using six complementary parameters related to both global shape and local atomic environment, depends on the sequence identity between target and template proteins. In addition to this general analysis, we also explored the impact of a number of factors on cleft quality, and found that the relationship between quality and sequence identity varies depending on cleft rank amongst the set of protein clefts (when ordered according to size), and number of aligned residues. We have examined cleft quality in homology models at a range of seq.id. levels. Our results provide a detailed view of how quality is affected by distinct parameters and thus may help the user of comparative modelling to determine the final quality and applicability of his/her cleft models

  14. Simultaneous maxillary distraction osteogenesis using a twin-track distraction device combined with alveolar bone grafting in cleft patients: preliminary report of a technique.

    PubMed

    Suzuki, Eduardo Yugo; Watanabe, Masayo; Buranastidporn, Boonsiva; Baba, Yoshiyuki; Ohyama, Kimie; Ishii, Masatoshi

    2006-01-01

    The simultaneous use of cleft reduction and maxillary advancement by distraction osteogenesis has not been applied routinely because of the difficulty in three-dimensional control and stabilization of the transported segments. This report describes a new approach of simultaneous bilateral alveolar cleft reduction and maxillary advancement by distraction osteogenesis combined with autogenous bone grafting. A custom-made Twin-Track device was used to allow bilateral alveolar cleft closure combined with simultaneous maxillary advancement, using distraction osteogenesis and a rigid external distraction system in a bilateral cleft lip and palate patient. After a maxillary Le Fort I osteotomy, autogenous iliac bone graft was placed in the cleft spaces before suturing. A latency period of six days was observed before activation. The rate of activation was one mm/d for the maxillary advancement and 0.5 mm/d for the segmental transport. Accordingly, the concave facial appearance was improved with acceptable occlusion, and complete bilateral cleft closure was attained. No adjustments were necessary to the vector of the transported segments during the activation and no complications were observed. The proposed Twin-Track device, based on the concept of track-guided bone transport, permitted three-dimensional control over the distraction processes allowing simultaneous cleft closure, maxillary distraction, and autogenous bone grafting. The combined simultaneous approach is extremely advantageous in correcting severe deformities, reducing the number of surgical interventions and, consequently, the total treatment time.

  15. Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 8. Assessing naso-labial appearance in 5-year-olds - a preliminary study.

    PubMed

    Mølsted, Kirsten; Humerinta, Kirsti; Küseler, Annelise; Skaare, Pål; Bellardie, Haydn; Shaw, William; Karsten, Agneta; Kåre Sæle, Paul; Rizell, Sara; Marcusson, Agneta; Eyres, Philip; Semb, Gunvor

    2017-02-01

    Facial appearance is one of the most relevant measures of success in cleft lip and palate treatment. The aim was to assess nasolabial appearance at 5 years of age in all children in the project. In this part of the project the local protocol for lip closure continued to be used because the primary lip and nose operations were not part of the randomisation. The great majority of the surgeons used Millard's technique together with McComb's technique for the nose. One center used Tennison-Randalls technique and in one center the centers own technique as well as nose plugs were used. Three hundred and fifty-nine children participated in this part of the project. Standardised photos according to a specific protocol developed for the Scandcleft project were taken. Only the nasolabial area was shown, the surrounding facial features were masked. Three components were scored using a 5-point ordinal scale. A new developed Scandcleft Yardstick was used. The reliability of the method was tested using the weighted kappa statistics. Both the interrater and intrarater reliability scores were good to very good. There were statistically significant differences between the three trials. The Millard procedure combined with McComb technique had been used in the majority of the cases in all three trials. There were statistically significant differences between the three trials concerning upper lip, nasal form, and cleft side profile. ISRCTN29932826.

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

    PubMed

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

    2015-09-01

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

  17. 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.

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

    PubMed

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

    2018-03-01

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

  19. 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

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

    PubMed

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

    2017-10-01

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

  1. 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.

  2. Facial diplegia: a clinical dilemma.

    PubMed

    Chakrabarti, Debaprasad; Roy, Mukut; Bhattacharyya, Amrit K

    2013-06-01

    Bilateral facial paralysis is a rare clinical entity and presents as a diagnostic challenge. Unlike its unilateral counterpart facial diplegia is seldom secondary to Bell's palsy. Occurring at a frequency of 0.3% to 2% of all facial palsies it often indicates ominous medical conditions. Guillian-Barre syndrome needs to be considered as a differential in all given cases of facial diplegia where timely treatment would be rewarding. Here a case of bilateral facial palsy due to Guillian-Barre syndrome with atypical presentation is reported.

  3. Deep Temporal Nerve Transfer for Facial Reanimation: Anatomic Dissections and Surgical Case Report.

    PubMed

    Mahan, Mark A; Sivakumar, Walavan; Weingarten, David; Brown, Justin M

    2017-09-08

    Facial nerve palsy is a disabling condition that may arise from a variety of injuries or insults and may occur at any point along the nerve or its intracerebral origin. To examine the use of the deep temporal branches of the motor division of the trigeminal nerve for neural reconstruction of the temporal branches of the facial nerve for restoration of active blink and periorbital facial expression. Formalin-fixed human cadaver hemifaces were dissected to identify landmarks for the deep temporal branches and the tension-free coaptation lengths. This technique was then utilized in 1 patient with a history of facial palsy due to a brainstem cavernoma. Sixteen hemifaces were dissected. The middle deep temporal nerve could be consistently identified on the deep side of the temporalis, within 9 to 12 mm posterior to the jugal point of the zygoma. From a lateral approach through the temporalis, the middle deep temporal nerve could be directly coapted to facial temporal branches in all specimens. Our patient has recovered active and independent upper facial muscle contraction, providing the first case report of a distinct distal nerve transfer for upper facial function. The middle deep temporal branches can be readily identified and utilized for facial reanimation. This technique provided a successful reanimation of upper facial muscles with independent activation. Utilizing multiple sources for neurotization of the facial muscles, different potions of the face can be selectively reanimated to reduce the risk of synkinesis and improved control. Copyright © 2017 by the Congress of Neurological Surgeons

  4. Diprosopus (partially duplicated head) associated with anencephaly: a case report.

    PubMed

    al Muti Zaitoun, A; Chang, J; Booker, M

    1999-01-01

    Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.

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

    PubMed

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

    2016-03-01

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

  6. Cervical vertebral maturation of female children with orofacial clefts.

    PubMed

    Sun, Ling; Li, Wei Ran

    2013-09-01

    Objective : To evaluate the skeletal maturation of girls with orofacial clefts using the cervical vertebral maturation method. Design : Case-control study. Setting : The School of Stomatology, Peking University. Patients : A total of 173 girls with cleft lip and/or palate from 8 to 16 years old were compared with 1038 age-matched girls without clefts. Results : In the 8- to 9-year-olds, most of the girls from both groups were in cervical stage 1. In the 14- to 15-year-olds and 15- to 16-year-olds, almost all the girls from both groups were in cervical stages 5 and 6, and most of the 15- to 16-year-old girls were in cervical stage 6. Differences existed in each year for 9- to 14-year-olds, which was confirmed by statistical analysis. After ordinal logistical regression of data from girls 9 to 14 years of age, girls of the same age in the non-cleft lip and/or palate group were associated with 1.559 times the odds of having achieved higher cervical stages than those in the cleft lip and/or palate group. Most girls without cleft lip and/or palate were in cervical stages 3 and 4 in the 11- to 12-year-olds; whereas, it was not so obvious in the girls with cleft lip and/or palate. By the age of 12, girls with cleft lip and/or palate had 2.667 times the risk of delayed cervical stage 3, and the 95% confidence interval for the odds ratio was 1.013 to 7.019. Conclusions : Girls with cleft lip and/or palate are at a higher risk of delayed pubertal growth.

  7. A case of 3q29 microdeletion syndrome involving oral cleft inherited from a non-affected mosaic parent: molecular analysis and ethical implications

    PubMed Central

    Petrin, Aline L.; Daack-Hirsch, Sandra; L’Heureux, Jamie; Murray, Jeffrey C

    2010-01-01

    Objective The objective of this study was to use array-CGH to detect causal microdeletions in samples of subjects with cleft lip and palate. Subjects We analyzed DNA samples from a male patient and parents that was seen during surgical screening for an Operation Smile medical mission in the Philippines. Method We used Affymetrix Genome Wide Human SNP Array 6.0 followed by sequencing and quantitative PCR using SYBR Green I dye. Results We report the second case of 3q29 microdeletion syndrome including cleft lip with or without cleft palate and the first case of this microdeletion syndrome inherited from a phenotypically normal mosaic parent. Conclusions Our findings confirm the utility of aCGH to detect causal microdeletions; indicate that parental somatic mosaicism should be considered in healthy parents for genetic counseling of the families and discuss important ethical implications of sharing health impact results from research studies with the participant families. PMID:20500065

  8. The evaluation and surgical management of cyclodialysis clefts that have failed to respond to conservative management

    PubMed Central

    Ioannidis, Alexander S; Bunce, Catey; Barton, Keith

    2014-01-01

    Purpose To investigate factors that may influence successful correction of hypotony in a consecutive series of patients with cyclodialysis clefts repaired surgically over a 10-year period. Design Retrospective interventional case series. Methods Interventional case series of consecutive patients with cyclodialysis clefts and hypotony treated surgically after failure of conservative treatment. Results Eighteen patients (18 eyes) of mean (SD) age 48.3 (15.8) years at the time of surgery were included (16 male, 2 female). All were diagnosed using gonioscopy, usually assisted with intracameral viscoelastic injection. Imaging used in three cases was not found to be sufficiently precise to plan surgical intervention, without prior gonioscopic cleft visualisation. The intraocular pressure (IOP) was restored in nine cases (50%) after one procedure with a postoperative IOP (mean±SD) of 13.6±4.5 mm Hg (6/11 who had cyclopexy as a first procedure and 3/6 who had cryopexy). 2–3 procedures were required in the remaining nine patients. There was a trend towards the use of cyclopexy for larger clefts and cryopexy for smaller clefts (NS). We observed a trend for a lower likelihood of successful closure of larger clefts after one intervention. Two eyes that had cyclopexy required later IOP-lowering surgery to achieve IOP control. Conclusions Most clefts were closed with one procedure. A trend towards larger cleft size as a preoperative risk factor for failure to achieve closure with one procedure was observed. In this series, imaging was not found to be sufficiently precise to replace viscoelastic-assisted gonioscopy in the diagnosis and evaluation of cyclodialysis clefts. PMID:24457370

  9. 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.

  10. Unilateral advancement of the maxillary minor segment by distraction osteogenesis in patients with repaired unilateral cleft lip and palate: report of two cases.

    PubMed

    Kuroe, Kazuto; Iino, Shoichiro; Shomura, Kenji; Okubo, Akiro; Sugihara, Kazumasa; Ito, Gakuji

    2003-05-01

    Collapse of the maxillary minor segment with lateral crossbite is a common feature in patients with repaired unilateral cleft lip/palate because of maxillary alveolar bony defect and palatal scar tissue. Distraction osteogenesis (DOG) is an effective technique of lengthening and augmentation for bone and gingiva. This case report describes the effects of unilateral advancement of the maxillary minor segment by DOG in two patients with the repaired unilateral cleft lip/palate.

  11. Maxillary segmental distraction in children with unilateral clefts of lip, palate, and alveolus.

    PubMed

    Zemann, Wolfgang; Pichelmayer, Margit

    2011-06-01

    Alveolar clefts are commonly closed by a bone grafting procedure. In cases of wide clefts the deficiency of soft tissue in the cleft area may lead to wound dehiscence and loss of the bony graft. Segmental maxillary bony transfer has been mentioned to be useful in such cases. Standard distraction devices allow unidirectional movement of the transported segment. Ideally the distraction should strictly follow the dental arch. The aim of this study was to analyze distraction devices that were adapted to the individual clinical situation of the patients. The goal was to achieve a distraction strictly parallel to the dental arch. Six children with unilateral clefts of lip, palate, and alveolus between 12 and 13 years of age were included in the study. The width of the cleft was between 7 and 19 mm. Dental cast models were used to manufacture individual distraction devices that should allow a segmental bony transport strictly parallel to the dental arch. Segmental osteotomy was performed under general anesthesia. Distraction was started 5 days after surgery. All distracters were tooth fixed but supported by palatal inserted orthodontic miniscrews. In all patients, a closure of the alveolar cleft was achieved. Two patients required additional bone grafting after the distraction procedure. The distraction was strictly parallel to the dental arch in all cases. In 1 case a slight cranial displacement of the transported maxillary segment could be noticed, leading to minor modifications of the following distractors. Distraction osteogenesis is a proper method to close wide alveolar clefts. Linear segmental transport is required in the posterior part of the dental arch, whereas in the frontal part the bony transport should run strictly parallel to the dental arch. An exact guided segmental transport may reduce the postoperative orthodontic complexity. Copyright © 2011 Mosby, Inc. All rights reserved.

  12. Contralateral botulinum toxin injection to improve facial asymmetry after acute facial paralysis.

    PubMed

    Kim, Jin

    2013-02-01

    The application of botulinum toxin to the healthy side of the face in patients with long-standing facial paralysis has been shown to be a minimally invasive technique that improves facial symmetry at rest and during facial motion, but our experience using botulinum toxin therapy for facial sequelae prompted the idea that botulinum toxin might be useful in acute cases of facial paralysis, leading to improve facial asymmetry. In cases in which medical or surgical treatment options are limited because of existing medical problems or advanced age, most patients with acute facial palsy are advised to await spontaneous recovery or are informed that no effective intervention exists. The purpose of this study was to evaluate the effect of botulinum toxin treatment for facial asymmetry in 18 patients after acute facial palsy who could not be optimally treated by medical or surgical management because of severe medical or other problems. From 2009 to 2011, nine patients with Bell's palsy, 5 with herpes zoster oticus and 4 with traumatic facial palsy (10 men and 8 women; age range, 22-82 yr; mean, 50.8 yr) participated in this study. Botulinum toxin A (Botox; Allergan Incorporated, Irvine, CA, USA) was injected using a tuberculin syringe with a 27-gauge needle. The amount injected per site varied from 2.5 to 3 U, and the total dose used per patient was 32 to 68 U (mean, 47.5 +/- 8.4 U). After administration of a single dose of botulinum toxin A on the nonparalyzed side of 18 patients with acute facial paralysis, marked relief of facial asymmetry was observed in 8 patients within 1 month of injection. Decreased facial asymmetry and strengthened facial function on the paralyzed side led to an increased HB and SB grade within 6 months after injection. Use of botulinum toxin after acute facial palsy cases is of great value. Such therapy decreases the relative hyperkinesis contralateral to the paralysis, leading to greater symmetric function. Especially in patients with medical

  13. Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts.

    PubMed

    Raguse, Jan D; Anagnostopoulos, Ioannis; Doll, Christian; Heiland, Max; Jöhrens, Korinna

    2017-01-01

    Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ER α ) in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Expression of ER α was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1) were found. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

  14. Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts

    PubMed Central

    Raguse, Jan D.; Jöhrens, Korinna

    2017-01-01

    Background Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Methods Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ERα) in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Results Expression of ERα was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1) were found. Conclusion The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts. PMID:29410959

  15. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

    PubMed

    Brito, Luciano Abreu; Yamamoto, Guilherme Lopes; Melo, Soraia; Malcher, Carolina; Ferreira, Simone Gomes; Figueiredo, Joana; Alvizi, Lucas; Kobayashi, Gerson Shigeru; Naslavsky, Michel Satya; Alonso, Nivaldo; Felix, Temis Maria; Zatz, Mayana; Seruca, Raquel; Passos-Bueno, Maria Rita

    2015-11-01

    Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology. To investigate the contribution of rare epithelial cadherin (CDH1) gene variants to NSOFC, we target sequenced 221 probands. Candidate variants were evaluated via in vitro, in silico, or segregation analyses. Three probably pathogenic variants (c.760G>A [p.Asp254Asn], c.1023T>G [p.Tyr341*], and c.2351G>A [p.Arg784His]) segregated according to autosomal dominant inheritance in four nonsyndromic cleft lip with or without cleft palate (NSCL/P) families (Lod score: 5.8 at θ = 0; 47% penetrance). A fourth possibly pathogenic variant (c.387+5G>A) was also found, but further functional analyses are needed (overall prevalence of CDH1 candidate variants: 2%; 15.4% among familial cases). CDH1 mutational burden was higher among probands from familial cases when compared to that of controls (P = 0.002). We concluded that CDH1 contributes to NSCL/P with mainly rare, moderately penetrant variants, and CDH1 haploinsufficiency is the likely etiological mechanism. © 2015 WILEY PERIODICALS, INC.

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

    PubMed

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

    2014-09-01

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

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

    PubMed

    Zhou, Xia; Ma, Lian

    2014-12-01

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

  18. [Presurgical nasoalveolar molding in infants with cleft lip and palate: analysis of 29 cases].

    PubMed

    Hou, Yu-xia; Ren, Zhan-ping; Li, Jin-feng; Li, Xiang-lin; Ma, Si-wei; Cao, Hui-qin

    2011-12-01

    The objective of this study was to treat the cleft lip and alveolus, nasal deformity with presurgical nasoalveolar molding (PNAM), to elucidate the problems and treatment methods, which may be helpful for the use of PNAM in clinic. Twenty nine infants with cleft lip and palate (CLP) were treated with PNAM in our center. There were 19 unilateral and 10 bilateral CLP patients. The initial visit time was 3 to 150 days after birth. Treatment time ranged from 2.5 to 3 months. The appliance was modified at 2-week interval. According to the evaluation standards, 17 infants were treated successfully with the closure of cleft lip and alveolar processes, reposition of the deformed nasal cartilages, and increased length of columella. The lip and nasal deformities of 9 infants were corrected partly, which were helpful for surgery. There were 3 infants giving up PNAM. There were five important facts for the successful treatment, including initial visit time, impression of the intraoral cleft defect, modification of the plate and the nasal stent, and use of nasal splints. Orthodontics and plastic surgeons should have the same views for PNAM in infants, which will advance the treatment level for cleft lip and palate.

  19. Mapping spontaneous facial expression in people with Parkinson's disease: A multiple case study design.

    PubMed

    Gunnery, Sarah D; Naumova, Elena N; Saint-Hilaire, Marie; Tickle-Degnen, Linda

    2017-01-01

    People with Parkinson's disease (PD) often experience a decrease in their facial expressivity, but little is known about how the coordinated movements across regions of the face are impaired in PD. The face has neurologically independent regions that coordinate to articulate distinct social meanings that others perceive as gestalt expressions, and so understanding how different regions of the face are affected is important. Using the Facial Action Coding System, this study comprehensively measured spontaneous facial expression across 600 frames for a multiple case study of people with PD who were rated as having varying degrees of facial expression deficits, and created correlation matrices for frequency and intensity of produced muscle activations across different areas of the face. Data visualization techniques were used to create temporal and correlational mappings of muscle action in the face at different degrees of facial expressivity. Results showed that as severity of facial expression deficit increased, there was a decrease in number, duration, intensity, and coactivation of facial muscle action. This understanding of how regions of the parkinsonian face move independently and in conjunction with other regions will provide a new focus for future research aiming to model how facial expression in PD relates to disease progression, stigma, and quality of life.

  20. 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

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2009-01-01

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

  4. Aesthetic outcome of cleft lip and palate treatment. Perceptions of patients, families, and health professionals compared to the general public.

    PubMed

    Gkantidis, Nikolaos; Papamanou, Despina A; Christou, Panagiotis; Topouzelis, Nikolaos

    2013-10-01

    The aesthetic outcome of cleft treatment is of great importance due to its complex management and the psychosocial consequences of this defect. The aim of the study was to assess the aesthetic evaluations of patients following cleft surgery by various groups and investigate potential associations of the assessments with life quality parameters. Head photos of 12 adult patients with treated unilateral cleft lip and palate were evaluated by laypeople and professionals. A questionnaire was distributed and answered by the patients and their parents. Intra-panel agreement was high (α > 0.8) for laypeople and professionals. Between-groups agreement was high for both laypeople and professionals, but not when patients and/or parents were tested. Professionals, parents, and patients were more satisfied with patients' appearance than laypeople, although in general all groups were not highly satisfied. Low satisfaction with aesthetics correlated with increased self-reported influence of the cleft in the patients' social activity and professional life (0.56 < rho < 0.74, p < 0.05). These findings highlight the observed negative influence of the cleft on the patient's social activity and professional life and underline the need for the highest quality of surgical outcome for this group of patients. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

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

    PubMed

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

    2016-05-01

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

  6. [Bilateral labio-maxillo-palatal clefts. Therapeutic evaluation].

    PubMed

    Raphaël, B; Morand, B; Bettega, G; Lesne, V; Lesne, C; Lebeau, J

    2001-06-01

    The wide diversity of bilateral facial clefts makes it most difficult to assess surgical success, particularly in terms of long-term outcome. The aim of this work was to examine the rationale for the current protocol used for cleft surgery at the Grenoble University Hospital. In a first group of 28 children, a 3-step surgical protocol was applied. The first two steps were performed between 4 and 8 months with at least 3 months between each procedure. Skoog's unilateral cheilo-rhino-uranoplasty was used, associated with a periosteal tibial graft. The third step, performed between 10 and 12 months, was for staphylorraphy. Outcome was analyzed at 15 years and evidenced the deleterious effect of excessive and asymmetrical premaxillary scars, of the 2-step cheiloplasty and of columella lengthenings from the lip. The frequency of secondary revision of the superior labial vestibule and the medial labial tubercule (43%) was considered to be high; this procedure should be re-examined as should be osteotomy (32% revision). Palatine closure, acquired in 82% of the cases and premaxillary stability, achieved in 86%, would appear to favor use of the periosteal tibial graft. The osteogenic capacity of this graft tissue was less satisfactory after a second harvesting (from the same tibia three months later). These results have led us to modify our protocol, favoring early and total closure of the bony palate and continued use of the periosteal tibial graft. We now use the following operative protocol: premaxillary alignment using an active orthopedic plate at 2 months, lip adhesion associated with staphylorraphy and passive palatine contention plate at 3 months, definitive bilateral cheilo-uranoplasty associated with a single periosteal graft at 7 months. The preliminary results with this protocol in a group of 12 children have shown better quality scars, more harmonious maxillary arches, an excellent occlusion of the deciduous dentition, and preservation of the positive results

  7. Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.

    PubMed

    Gowans, Lord Jephthah Joojo; Oseni, Ganiyu; Mossey, Peter A; Adeyemo, Wasiu Lanre; Eshete, Mekonen A; Busch, Tamara D; Donkor, Peter; Obiri-Yeboah, Solomon; Plange-Rhule, Gyikua; Oti, Alexander A; Owais, Arwa; Olaitan, Peter B; Aregbesola, Babatunde S; Oginni, Fadekemi O; Bello, Seidu A; Audu, Rosemary; Onwuamah, Chika; Agbenorku, Pius; Ogunlewe, Mobolanle O; Abdur-Rahman, Lukman O; Marazita, Mary L; Adeyemo, A A; Murray, Jeffrey C; Butali, Azeez

    2018-05-01

    Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband with the p.Gly61Asp GREM1 variant is a van der Woude (VWS) case who also has an etiologic variant in IRF6 gene. Our study demonstrated that there is low number of etiologic coding variants in GREM1, confirming earlier suggestions that variants in regulatory elements may largely account for the association between this locus and CL/P.

  8. Anovulvar cleft and vaginal prolapse-hyperplasia in a bitch.

    PubMed

    Mostachio, G Q; Vicente, W R R; Cardilli, D J; Pires, E A; Toniollo, G H

    2007-12-01

    This report presents the case of a nine-month-old bitch with incomplete occlusion of the skin and mucosa between the anus and dorsal commissure of the vulva. This anomaly, known as anovulvar cleft, was associated with a vaginal prolapse-hyperplasia. Anovulvar cleft is a rare condition in bitches and is caused by incomplete closure of the dorsal urogenital folds. Anovulvar cleft can lead to clitoritis, abrasion, dryness and devitalisation of the smooth exposed mucosa. Surgery can correct the condition. In the present study, surgical resection of the hyperplasic vaginal tissue associated with perineoplasty using an inverted V-shaped incision showed excellent results. An ovariohysterectomy was also performed to prevent recurrence of the vaginal prolapse-hyperplasia.

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

    PubMed

    Meng, Tian; Ma, Lian; Wang, Zhi

    2015-10-01

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

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

    PubMed

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

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

  11. Factors prognostic for phonetic development after cleft palate repair.

    PubMed

    Lee, Joon Seok; Kim, Jae Bong; Lee, Jeong Woo; Yang, Jung Dug; Chung, Ho Yun; Cho, Byung Chae; Choi, Kang Young

    2015-10-01

    Palatoplasty is aimed to achieve normal speech, improve food intake, and ensure successful maxillary growth. However, the velopharyngeal function is harder to control than other functions. Therefore, many studies on the prognostic factor of velopharyngeal insufficiency have been conducted. This study aimed to evaluate the relationships between speech outcomes and multimodality based on intraoral and preoperative three-dimensional computerized tomographic (CT) findings. Among 73 children with cleft palate who underwent palatoplasty between April 2011 and August 2014 at Kyungpook National University Hospital (KNUH), 27 were retrospectively evaluated. The 27 cases were non-syndromic, for which successful speech evaluation was conducted by a single speech-language pathologist (Table 1). Successful speech evaluation was defined as performing the test three times in 6-month intervals. Three intraoral parameters were measured before and immediately after operation (Fig. 1). On axial- and coronal-view preoperative facial CT, 5 and 2 different parameters were analyzed, respectively (Figs. 2 and 3). Regression analysis (SPSS IBM 22.0) was used in the statistical analysis. Two-flap palatoplasty and Furlow's double opposing Z-plasty were performed in 15 and 12 patients, respectively. The operation was performed 11 months after birth on average. Children with a higher palatal arch and wider maxillary tuberosity distance showed hypernasality (p < 0.05; Table 2). The useful prognostic factors of velopharyngeal function after palatoplasty were palate width and height, rather than initial diagnosis, treatment method, or palate length. Therefore, a more active intervention is needed, such as orthopedic appliance, posterior pharyngeal wall augmentation, or early speech training. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  12. Maternal underweight and obesity and risk of orofacial clefts in a large international consortium of population-based studies.

    PubMed

    Kutbi, Hebah; Wehby, George L; Moreno Uribe, Lina M; Romitti, Paul A; Carmichael, Suzan; Shaw, Gary M; Olshan, Andrew F; DeRoo, Lisa; Rasmussen, Sonja A; Murray, Jeffrey C; Wilcox, Allen; Lie, Rolv T; Munger, Ronald G

    2017-02-01

    Evidence on association of maternal pre-pregnancy weight with risk of orofacial clefts is inconsistent. Six large case-control studies of orofacial clefts from Northern Europe and the USA were included in analyses pooling individual-level data. Cases included 4943 mothers of children with orofacial clefts (cleft lip only: 1135, cleft palate with cleft lip: 2081, cleft palate only: 1727) and controls included 10 592 mothers of unaffected children. Association of orofacial cleft risk with pre-pregnancy maternal weight classified by level of body mass index (BMI, kg/m 2 ) was evaluated using logistic regression adjusting for multiple covariates. Cleft palate, both alone and with cleft lip (CP+/-CL), was associated with maternal class II+ pre-pregnancy obesity (≥ 35)compared with normal weight [adjusted odds ratio (aOR) = 1.36; 95% confidence interval (CI) = 1.16, 1.58]. CP+/-CL was marginally associated with maternal underweight (aOR = 1.16; 95% CI = 0.98, 1.36). Cleft lip alone was not associated with BMI. In this largest population-based study to date, we found an increased risk of cleft palate, with or without cleft lip, in class II+ obese mothers compared with normal-weight mothers; underweight mothers may also have an increased risk, but this requires further study. These results also suggest that extremes of weight may have a specific effect on palatal development. © The Author 2016; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

  13. Retrospective case series of the imaging findings of facial nerve hemangioma.

    PubMed

    Yue, Yunlong; Jin, Yanfang; Yang, Bentao; Yuan, Hui; Li, Jiandong; Wang, Zhenchang

    2015-09-01

    The aim was to compare high-resolution computed tomography (HRCT) and thin-section magnetic resonance imaging (MRI) findings of facial nerve hemangioma. The HRCT and MRI characteristics of 17 facial nerve hemangiomas diagnosed between 2006 and 2013 were retrospectively analyzed. All patients included in the study suffered from a space-occupying lesion of soft tissues at the geniculate ganglion fossa. Affected nerve was compared for size and shape with the contralateral unaffected nerve. HRCT showed irregular expansion and broadening of the facial nerve canal, damage of the bone wall and destruction of adjacent bone, with "point"-like or "needle"-like calcifications in 14 cases. The average CT value was 320.9 ± 141.8 Hu. Fourteen patients had a widened labyrinthine segment; 6/17 had a tympanic segment widening; 2/17 had a greater superficial petrosal nerve canal involvement, and 2/17 had an affected internal auditory canal (IAC) segment. On MRI, all lesions were significantly enhanced due to high blood supply. Using 2D FSE T2WI, the lesion detection rate was 82.4 % (14/17). 3D fast imaging employing steady-state acquisition (3D FIESTA) revealed the lesions in all patients. HRCT showed that the average number of involved segments in the facial nerve canal was 2.41, while MRI revealed an average of 2.70 segments (P < 0.05). HRCT and MR findings of facial nerve hemangioma were typical, revealing irregular masses growing along the facial nerve canal, with calcifications and rich blood supply. Thin-section enhanced MRI was more accurate in lesion detection and assessment compared with HRCT.

  14. ATTITUDE OF CLEFT CARE SPECIALISTS IN AFRICA TOWARDS PRESURGICAL ORTHOPAEDICS.

    PubMed

    Adeyemi, A T; Bankole, O O

    2012-12-01

    To determine the attitude of cleft care specialists working in Africa towards pre-surgical orthopaedics. A cross sectional study. Pan-African conference on cleft lip and palate in Nigeria. Sixty cleft care specialists working in Africa. The general attitude towards pre-surgicalorthopaedics was positive. Majority of the specialists employ pre-surgical orthopaedics before surgical repair. Fifty four (91%) of the specialists use plaster strapping for cases of bilateral cleft, five (8.3%) use nasoalveolar molding and one (2%) use feeding plate. Half of the specialists (50%) felt that pre-surgical orthopaedics is to be managed by orthodontists alone. There were significant difference in attitude towards pre-surgical orthopaedics between providers (p < 0.05). Orthodontists had a strong positive attitude towards pre-surgical orthopaedics than other specialists. Younger specialists had a more positive attitude towards pre-surgical orthopaedics than older specialists. Cleft care specialists in Africa have a positive attitude towards pre-surgical orthopaedics. Majority of them use plaster strapping technique. Younger specialists have a more favorable attitude towards pre-surgical orthopaedics than older specialists.

  15. Endoscope-assisted approach to excision of branchial cleft cysts.

    PubMed

    Teng, Stephanie E; Paul, Benjamin C; Brumm, John D; Fritz, Mark; Fang, Yixin; Myssiorek, David

    2016-06-01

    The purpose of this study is to describe an endoscope-assisted surgical technique for the excision of branchial cleft cysts and compare it to the standard approach. Retrospective case series review. Twenty-seven cases described as branchial cleft excisions performed by a single surgeon at one academic medical center were identified between 2007 and 2014. Twenty-five cases (8 endoscopic, 17 standard approach) were included in the study. Cases were excluded if final pathology was malignant. Patient charts were reviewed, and two techniques were compared through analysis of incision size, operative time, and surgical outcomes. This study showed that the length of incision required for the endoscopic approach (mean = 2.13 ± 0.23) was significantly less than that of the standard approach (mean = 4.10 ± 1.46, P = 0.008) despite the fact that there was no significant difference in cyst size between the two groups (P = 0.09). The other variables examined, including operative time and surgical outcomes, were not significantly different between the two groups. This transcervical endoscope-assisted approach to branchial cleft cyst excision is a viable option for uncomplicated cases. It provides better cosmetic results than the standard approach and does not negatively affect outcomes, increase operative time, or result in recurrence. 4. Laryngoscope, 126:1339-1342, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  16. A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome.

    PubMed

    Astley, S J; Clarren, S K

    1996-07-01

    The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surveillance tools. Frontal facial photographs of 42 subjects (from birth to 27 years of age) with FAS were matched to 84 subjects without FAS. The study population was randomly divided in half. Group 1 was used to identify the facial features that best differentiated individuals with and without FAS. Group 2 was used for cross validation. In group 1, stepwise discriminant analysis identified three facial features (reduced palpebral fissure length/inner canthal distance ratio, smooth philtrum, and thin upper lip) as the cluster of features that differentiated individuals with and without FAS in groups 1 and 2 with 100% accuracy. Sensitivity and specificity were unaffected by race, gender, and age. The phenotypic case definition derived from photographs accurately distinguished between individuals with and without FAS, demonstrating the potential of this approach for developing screening, diagnostic, and surveillance tools. Further evaluation of the validity and generalizability of this method will be needed.

  17. 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.

  18. Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci

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

    Chenevix-Trench, G.; Jones, K.; Green, A.C.

    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 themore » 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.« less

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

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

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

    1993-06-01

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

  20. Branchial cleft cyst

    MedlinePlus

    ... develop normally. The birth defect may appear as open spaces called cleft sinuses, which may develop on one or both sides of the neck. A branchial cleft cyst may form from fluid drained from a sinus. The cyst or sinus can become infected.

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

    PubMed

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

    2018-01-01

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

  2. 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

  3. 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.

  4. Isolated cleft palate requires different surgical protocols depending on cleft type.

    PubMed

    Elander, Anna; Persson, Christina; Lilja, Jan; Mark, Hans

    2017-08-01

    A staged protocol for isolated cleft palate (CPO), comprising the early repair of the soft palate at 6 months and delayed repair of the eventual cleft in the hard palate until 4 years, designed to improve maxillary growth, was introduced. CPO is frequently associated with additional congenital conditions. The study evaluates this surgical protocol for clefts in the soft palate (CPS) and for clefts in the hard and soft palate (CPH), with or without additional malformation, regarding primary and secondary surgical interventions needed for cleft closure and for correction of velopharyngeal insufficiency until 10 years of age. Of 94 consecutive children with CPO, divided into four groups with (+) or without (-) additional malformations (CPS + or CPS - and CPH + or CPH-), hard palate repair was required in 53%, performed with small local flaps in 21% and with bilateral mucoperiosteal flaps in 32%. The total incidence of soft palate re-repair was 2% and the fistula repair of the hard palate was 5%. The total incidence of secondary velopharyngeal surgery was 17% until 10 years, varying from 0% for CPS - and 15% for CPH-, to 28% for CPS + and 30% for CPH+. The described staged protocol for repair of CPO is found to be safe in terms of perioperative surgical results, with comparatively low need for secondary interventions. Furthermore, the study indicates that the presence of a cleft in the hard palate and/or additional conditions have a negative impact on the development of the velopharyngeal function.

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

    PubMed

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

    2013-06-01

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

  6. Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

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

    Nickel, R.E.; Pillers, D.M.; Merkens, M.

    Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both have bifid uvula. The third child had DiGeorge sequence (DGS). The associationmore » of NTDs with 22q11 deletion has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. 31 refs., 3 figs.« less

  7. Long-term facial improvement after repeated BoNT-A injections and mirror biofeedback exercises for chronic facial synkinesis: a case-series study.

    PubMed

    Mandrini, Silvia; Comelli, Mario; Dall'angelo, Anna; Togni, Rossella; Cecini, Miriam; Pavese, Chiara; Dalla Toffola, Elena

    2016-12-01

    Only few studies have considered the effects of the combined treatment with onabotulinumtoxinA (BoNT-A) injections and biofeedback (BFB) rehabilitation in the recovery of postparetic facial synkinesis (PPFS). To explore the presence of a persistent improvement in facial function out of the pharmacological effect of BoNT-A in subjects with established PPFS, after repeated sessions of BoNT-A injections combined with an educational facial training program using mirror biofeedback (BFB) exercises. Secondary objective was to investigate the trend of the presumed persistent improvement. Case-series study. Outpatient Clinic of Physical Medicine and Rehabilitation Unit. Twenty-seven patients (22 females; mean age 45±16 years) affected by an established peripheral facial palsy, treated with a minimum of three BoNT-A injections in association with mirror BFB rehabilitation. The interval between consecutive BoNT-A injections was at least five months. At baseline and before every BoNT-A injection+mirror BFB session (when the effect of the previous BoNT-A injection had vanished), patients were assessed with the Italian version of Sunnybrook Facial Grading System (SB). The statistical analysis considered SB composite and partial scores before each treatment session compared to the baseline scores. A significant improvement of the SB composite and partial scores was observed until the fourth session. Considering the "Symmetry of Voluntary Movement" partial score, the main improvement was observed in the muscles of the lower part of the face. In a chronic stage of postparetic facial synkinesis, patients may benefit from a combined therapy with repeated BoNT-A injections and an educational facial training program with mirror BFB exercises, gaining an improvement of the facial function up to the fourth session. This improvement reflects the acquired ability to use facial muscle correctly. It doesn't involve the injected muscles but those trained with mirror biofeedback exercises

  8. Simultaneous branchial cleft and thyroid disorders may present a management challenge.

    PubMed

    Harding, Jane L; Veivers, David; Sidhu, Stan B; Sywak, Mark S; Shun, Albert; Delbridge, Leigh W

    2005-09-01

    Cysts, sinuses or abscesses arising from second, third or fourth branchial cleft remnants may lie either within the body of, or in close proximity to the thyroid gland. Given their infrequent nature they may pose both diagnostic and management challenges for the treating surgeon when they occur in association with thyroid disorders. This is a case series. All patients with concomitant thyroid disorders and a branchial cleft anomaly treated in the University of Sydney Endocrine Surgical Unit in the 10-year period 1994-2003 comprised the study group. Patient demographics, clinical presentation, imaging, surgical management, definitive histology and outcomes were documented. Six patients were identified with an age range of 3-76 years and a male : female ratio of 1:5. Five branchial cleft anomalies were left sided, one was right sided. Two patients had second cleft anomalies, both of which were initially thought to represent metastatic lymph nodes in association with thyroid cancer. A further two patients had third cleft abnormalities presenting as suppurative thyroiditis. The final two patients had fourth cleft abnormalities causing intraoperative management problems. Branchial cleft remnants and anomalies are rare but may occur in association with thyroid disease. They may pose a diagnostic and management dilemma either preoperatively, when mistaken for metastatic thyroid cancer, or intraoperatively when mistaken for a thyroid nodule.

  9. First branchial cleft anomalies: presentation, variability and safe surgical management.

    PubMed

    Magdy, Emad A; Ashram, Yasmine A

    2013-05-01

    First branchial cleft (FBC) anomalies are uncommon. The aim of this retrospective clinical study is to describe our experience in dealing with these sporadically reported lesions. Eighteen cases presenting with various FBC anomalies managed surgically during an 8-year period at a tertiary referral medical institution were included. Ten were males (56 %) and eight females (44 %) with age range 3-18 years. Anomaly was right-sided in 12 cases (67 %). None were bilateral. Nine patients (50 %) had prior abscess incision and drainage procedures ranging from 1 to 9 times. Two also had previous unsuccessful surgical excisions. Clinical presentations included discharging tract openings in external auditory canal/conchal bowl (n = 9), periauricular (n = 6), or upper neck (n = 4); cystic postauricular, parotid or upper neck swellings (n = 5); and eczematous scars (n = 9). Three distinct anatomical types were encountered: sinuses (n = 7), fistulas (n = 6), and cysts (n = 5). Complete surgical excision required superficial parotidectomy in 11 patients (61 %). Anomaly was deep to facial nerve (FN) in three cases (17 %), in-between its branches in two (11 %) and superficial (but sometimes adherent to the nerve) in remaining cases (72 %). Continuous intraoperative electrophysiological FN monitoring was used in all cases. Two cases had postoperative temporary lower FN paresis that recovered within 2 months. No further anomaly manifestation was observed after 49.8 months' mean postoperative follow-up (range 10-107 months). This study has shown that awareness of different presentations and readiness to identify and protect FN during surgery is essential for successful management of FBC anomalies. Intraoperative electrophysiological FN monitoring can help in that respect.

  10. Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma

    PubMed Central

    Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M.; Ginsberg, Lawrence E.; Gidley, Paul W.

    2014-01-01

    Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomography demonstrated filling and erosion of the stylomastoid foramen with a mass on the facial nerve. Postoperative histopathology showed the presence of a pleomorphic adenoma. Facial paralysis was thought to be caused by extrinsic nerve compression. Conclusions This case illustrates the difficulty of accurate preoperative diagnosis of a parotid gland mass and reinforces the concept that facial nerve paralysis in the context of salivary gland tumors may not always indicate malignancy. PMID:25083397

  11. Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma.

    PubMed

    Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M; Ginsberg, Lawrence E; Gidley, Paul W

    2014-08-01

    Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomography demonstrated filling and erosion of the stylomastoid foramen with a mass on the facial nerve. Postoperative histopathology showed the presence of a pleomorphic adenoma. Facial paralysis was thought to be caused by extrinsic nerve compression. Conclusions This case illustrates the difficulty of accurate preoperative diagnosis of a parotid gland mass and reinforces the concept that facial nerve paralysis in the context of salivary gland tumors may not always indicate malignancy.

  12. Clinical outcomes of primary palatoplasty in pre-school-aged cleft palate children in Srinagarind hospital: quality of life.

    PubMed

    Pradubwong, Suteera; Mongkholthawornchai, Siriporn; Keawkhamsean, Natda; Patjanasoontorn, Niramol; Chowchuen, Bowornsilp

    2014-10-01

    Cleft lips and cleft palates are common congenital anomalies, which affects facial appearance, speech, hearing, teeth alignment and other structures. Craniofacial anomalies and speech disorders are crucial problems in the preschool-aged children (5-6 years old), when they start attending school and become more engaged in the community. This condition, which differentiates them from other students, can lead to teasing or mocking which can cause low-self esteem, an inferiority complex, andfoster bad relationships with friends. Missing class in order to receive treatment and other additional care can affect a student's learning, development and overall-quality of life. The purpose of this research was to study the quality of life in preschool-aged cleftpalate children and satisfaction with their level of speech. This was a retrospective, descriptive study. The data were collected by reviewing medical records of patients with cleft lip and cleft palate aged 5-6 years old who underwent operation and treatment with the Tawanchai Center at Srinagarind Hospital. There were 39patients in this study. Data collection was conducted for 5 months (June to October 2013). The research instruments were: (1) General Demographic Questionnaire, (2) Quality of Life Questionnaire with 5 Domains, and (3) the Satisfaction of Speech Questionnaire. The descriptive statistics, percentages and the standard deviation were analyzed in the present study. The findings revealedfamily information pertaining to CLP treatment and the impact it has on consumption, speech training, hearing test, development, dental treatment, communication skills, participation, referral treatment as well as the quality ofcoordinationfor advanced treatment. The present study revealed that all ofthe aforementioned criteria were met at a high level. Moreover the child's sickness had only a moderate impact on family life. In conclusion, the overall satisfaction was at a very high level. It was concluded that the

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

    PubMed

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

    2016-06-01

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

  14. Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1

    PubMed Central

    Beiraghi, Soraya ; Nath, Swapan K. ; Gaines, Matthew ; Mandhyan, Desh D. ; Hutchings, David ; Ratnamala, Uppala ; McElreavey, Ken ; Bartoloni, Lucia ; Antonarakis, Gregory S. ; Antonarakis, Stylianos E. ; Radhakrishna, Uppala 

    2007-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700–1,000 live births among individuals of European descent. Several linkage and association studies of NSCL/P have suggested numerous candidate genes and genomic regions. A genomewide linkage analysis of a large multigenerational family (UR410) with NSCL/P was performed using a single-nucleotide–polymorphism array. Nonparametric linkage (NPL) analysis provided significant evidence of linkage for marker rs728683 on chromosome 18q21.1 (NPL=43.33 and P=.000061; nonparametric LOD=3.97 and P=.00001). Parametric linkage analysis with a dominant mode of inheritance and reduced penetrance resulted in a maximum LOD score of 3.61 at position 47.4 Mb on chromosome 18q21.1. Haplotype analysis with informative crossovers defined a 5.7-Mb genomic region spanned by proximal marker rs1824683 (42,403,918 bp) and distal marker rs768206 (48,132,862 bp). Thus, a novel genomic region on 18q21.1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus “OFC11” (orofacial cleft 11). PMID:17564975

  15. How to Avoid Facial Nerve Injury in Mastoidectomy?

    PubMed Central

    Ryu, Nam-Gyu

    2016-01-01

    Unexpected iatrogenic facial nerve paralysis not only affects facial disfiguration, but also imposes a devastating effect on the social, psychological, and economic aspects of an affected person's life at once. The aims of this study were to postulate where surgeons had mistakenly drilled or where obscured by granulations or by fibrous bands and to look for surgical approach with focused on the safety of facial nerve in mastoid surgery. We had found 14 cases of iatrogenic facial nerve injury (IFNI) during mastoid surgery for 5 years in Korea. The medical records of all the patients were obtained and analyzed injured site of facial nerve segment with surgical technique of mastoidectomy. Eleven patients underwent facial nerve exploration and three patients had conservative management. 43% (6 cases) of iatrogenic facial nerve injuries had occurred in tympanic segment, 28.5% (4 cases) of injuries in second genu combined with tympanic segment, and 28.5% (4 cases) of injuries in mastoid segment. Surgeons should try to identify the facial nerve using available landmarks and be kept in mind the anomalies of the facial nerve. With use of intraoperative facial nerve monitoring, the avoidance of in order to avoid IFNI would be possible in more cases. Many authors emphasized the importance of intraoperative facial nerve monitoring, even in primary otologic surgery. However, anatomical understanding of intratemporal landmarks with meticulous dissection could not be emphasized as possible to prevent IFNI. PMID:27626078

  16. Facial fractures caused by less-lethal rubber bullet weapons: case series report and literature review.

    PubMed

    Amaral, Marcio Bruno Figueiredo; Bueno, Sebastião Cristian; Abdala, Icaro Buchholz; da Silveira, Roger Lanes

    2017-09-01

    The present study aims to describe three cases of patients inflicted by rubber bullets with severe facial fractures. In addition, a review of English-language literature involving facial fractures by rubber bullets from 1975 to 2016 was performed. This current study demonstrated that the use of the LLRBW is unsafety even when applied by police enforcements exclusively. Management of facial fractures caused by LLRBW is done in a usual manner with closed or open reduction associated with bone mini-plates or reconstruction plates when indicated. Special initial wound care should be done to avoid secondary infection and additional procedures.

  17. Nasoalveolar molding improves appearance of children with bilateral cleft lip-cleft palate.

    PubMed

    Lee, Catherine T H; Garfinkle, Judah S; Warren, Stephen M; Brecht, Lawrence E; Cutting, Court B; Grayson, Barry H

    2008-10-01

    Bilateral cleft lip-cleft palate is associated with nasal deformities typified by a short columella. The authors compared nasal outcomes of cleft patients treated with banked fork flaps to those of patients who underwent nasoalveolar molding and primary retrograde nasal reconstruction. A retrospective review of 26 consecutive patients with bilateral cleft lip-cleft palate was performed. Group 1 patients (n = 13) had a cleft lip repair and nasal correction with banked fork flaps. Group 2 patients (n = 13) had nonsurgical columellar elongation with nasoalveolar molding followed by cleft lip closure and primary retrograde nasal correction. Group 3 patients (n = 13) were age-matched controls. Columellar length was measured at presentation and at 3 years of age. The number of nasal operations was recorded to 9 years. The Kruskal-Wallis and Tukey-Kramer tests were used for statistical analysis. Initial columellar length was 0.49 +/- 0.37 mm in group 1 and 0.42 +/- 0.62 mm in group 2. Post-nasoalveolar molding columellar length was 4.5 +/- 0.76 mm in group 2. By 3 years of age, columellar length was 3.03 +/- 1.47 mm in group 1, 5.98 +/- 1.09 mm in group 2, and 6.35 +/- 0.99 mm in group 3. Group 2 columellar length was significantly greater (p < 0.001) than that of group 1 and not statistically different from that of group 3 (p > 0.05). All group 1 patients (13 of 13) needed secondary nasal surgery. No nasoalveolar molding patients (zero of 13, group 2) required secondary nasal surgery. Nonsurgical columellar elongation with nasoalveolar molding followed by primary retrograde nasal reconstruction restored columellar length to normal by 3 years and significantly reduced the need for secondary nasal surgery.

  18. Surgical repair of large cyclodialysis clefts.

    PubMed

    Gross, Jacob B; Davis, Garvin H; Bell, Nicholas P; Feldman, Robert M; Blieden, Lauren S

    2017-05-11

    To describe a new surgical technique to effectively close large (>180 degrees) cyclodialysis clefts. Our method involves the use of procedures commonly associated with repair of retinal detachment and complex cataract extraction: phacoemulsification with placement of a capsular tension ring followed by pars plana vitrectomy and gas tamponade with light cryotherapy. We also used anterior segment optical coherence tomography (OCT) as a noninvasive mechanism to determine the extent of the clefts and compared those results with ultrasound biomicroscopy (UBM) and gonioscopy. This technique was used to repair large cyclodialysis clefts in 4 eyes. All 4 eyes had resolution of hypotony and improvement of visual acuity. One patient had an intraocular pressure spike requiring further surgical intervention. Anterior segment OCT imaging in all 4 patients showed a more extensive cleft than UBM or gonioscopy. This technique is effective in repairing large cyclodialysis clefts. Anterior segment OCT more accurately predicted the extent of each cleft, while UBM and gonioscopy both underestimated the size of the cleft.

  19. A rare variant of first branchial cleft fistula.

    PubMed

    Ramnani, S; Mungutwar, V; Goyal, N K; Bansal, A

    2009-12-01

    We report an extremely rare variant of first branchial cleft anomaly. A 15-year-old girl presented with a history of recurrent mucopurulent discharge from an opening in the left infra-auricular region, since birth. Computed tomography fistulography showed a tortuous tract measuring approximately 4.61 cm, extending anteroinferiorly and medially from the external inframeatal opening to the lateral nasopharyngeal wall (anterior to the fossa of Rosenmuller). The tract was connected to the deep lobe of the parotid gland and lay 0.67 cm anterior to the carotid artery and posterior to the medial pterygoid muscle. This was an extremely rare variant of first branchial cleft fistula. To the best of our knowledge, this is the first case of its type to be reported. Computed tomography fistulography is the imaging modality of choice for the diagnosis of branchial cleft fistula, and will also assist surgical planning.

  20. Pre-surgical nasoalveolar moulding in patient with unilateral cleft of lip, alveolus and palate: case report.

    PubMed

    Patel, Dolly; Goyal, Ramesh

    2012-01-01

    A 2 month-old infant with unilateral cleft lip, alveolus and palate was presented with wide alveolar defect, soft-tissue deformity and a markedly sunken nasal wing at the cleft side. The patient was treated with a moulding plate and additionally with a nasal stent. The device consisted of an acrylic plate with an attached nasal stent that lifted the nasal dome. Under this pre-surgical treatment, the cleft edges moved closer by 9 mm and 6 mm at the alveolar ridge and palate, respectively. The nasal wing was lifted considerably. Pre-surgical nasoalveolar moulding helped to reduce the cleft gap, improve the arch form, approximate lip segments and distinctly improve the morphology of the nose by correcting flattened nasal wings. Copyright © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  1. Easy facial analysis using the facial golden mask.

    PubMed

    Kim, Yong-Ha

    2007-05-01

    For over 2000 years, many artists and scientists have tried to understand or quantify the form of the perfect, ideal, or most beautiful face both in art and in vivo (life). A mathematical relationship has been consistently and repeatedly reported to be present in beautiful things. This particular relationship is the golden ratio. It is a mathematical ratio of 1.618:1 that seems to appear recurrently in beautiful things in nature as well as in other things that are seen as beautiful. Dr. Marquardt made the facial golden mask that contains and includes all of the one-dimensional and two-dimensional geometric golden elements formed from the golden ratio. The purpose of this study is to evaluate the usefulness of the golden facial mask. In 40 cases, the authors applied the facial golden mask to preoperative and postoperative photographs and scored each photograph on a 1 to 5 scale from the perspective of their personal aesthetic views. The score was lower when the facial deformity was severe, whereas it was higher when the face was attractive. Compared with the average scores of facial mask applied photographs and nonapplied photographs using a nonparametric test, statistical significance was not reached (P > 0.05). This implies that the facial golden mask may be used as an analytical tool. The facial golden mask is easy to apply, inexpensive, and relatively objective. Therefore, the authors introduce it as a useful facial analysis.

  2. Enhancing facial features by using clear facial features

    NASA Astrophysics Data System (ADS)

    Rofoo, Fanar Fareed Hanna

    2017-09-01

    The similarity of features between individuals of same ethnicity motivated the idea of this project. The idea of this project is to extract features of clear facial image and impose them on blurred facial image of same ethnic origin as an approach to enhance a blurred facial image. A database of clear images containing 30 individuals equally divided to five different ethnicities which were Arab, African, Chines, European and Indian. Software was built to perform pre-processing on images in order to align the features of clear and blurred images. And the idea was to extract features of clear facial image or template built from clear facial images using wavelet transformation to impose them on blurred image by using reverse wavelet. The results of this approach did not come well as all the features did not align together as in most cases the eyes were aligned but the nose or mouth were not aligned. Then we decided in the next approach to deal with features separately but in the result in some cases a blocky effect was present on features due to not having close matching features. In general the available small database did not help to achieve the goal results, because of the number of available individuals. The color information and features similarity could be more investigated to achieve better results by having larger database as well as improving the process of enhancement by the availability of closer matches in each ethnicity.

  3. Evaluation of 22q11.2 deletion in Cleft Palate patients

    PubMed Central

    Prabodha, L. B. Lahiru; Dias, Dayanath Kumara; Nanayakkara, B. Ganananda; de Silva, Deepthi C.; Chandrasekharan, N. Vishvanath; Ileyperuma, Isurani

    2012-01-01

    Background: Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion in patients with cleft palate in Sri Lanka. Materials and Methods: Cleft patients attending a Teaching Hospital in Sri Lanka were recruited for this study. The relevant data were obtained from review of case notes, interviews, and examination of patients according to a standard evaluation sheet. Quantitative multiplex polymerase chain reaction (PCR) was performed to identify the 22q11.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel. Results and Conclusion: There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical features. Dysmorphic features (25.27%) and developmental delays (25.27%) were the commonest medical problems encountered. The cleft was limited to the soft palate in 125 patients, while in 25 patients it involved both the hard and the soft palate. There were seven subjects with bifid uvula and five subjects with submucous cleft palate. None of the patients had 22q11.2 deletion in this study population. A multicentered large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22q11.2 deletion testing, which are valid for cleft palate patients in Sri Lanka. PMID:23483617

  4. Clinical Study of Second Branchial Cleft Anomalies.

    PubMed

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

    2018-03-30

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

  5. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

    PubMed

    Schweitzer, Daniela N; Yano, Shoji; Earl, Dawn L; Graham, John M

    2003-07-30

    In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives. Copyright 2003 Wiley-Liss, Inc.

  6. Chondromyxoid fibroma of the mastoid facial nerve canal mimicking a facial nerve schwannoma.

    PubMed

    Thompson, Andrew L; Bharatha, Aditya; Aviv, Richard I; Nedzelski, Julian; Chen, Joseph; Bilbao, Juan M; Wong, John; Saad, Reda; Symons, Sean P

    2009-07-01

    Chondromyxoid fibroma of the skull base is a rare entity. Involvement of the temporal bone is particularly rare. We present an unusual case of progressive facial nerve paralysis with imaging and clinical findings most suggestive of a facial nerve schwannoma. The lesion was tubular in appearance, expanded the mastoid facial nerve canal, protruded out of the stylomastoid foramen, and enhanced homogeneously. The only unusual imaging feature was minor calcification within the tumor. Surgery revealed an irregular, cystic lesion. Pathology diagnosed a chondromyxoid fibroma involving the mastoid portion of the facial nerve canal, destroying the facial nerve.

  7. Practical Repair Method for Unilateral Cleft Lips: Straight-Line Advanced Release Technique.

    PubMed

    Baek, Rong-Min; Choi, Jun-Ho; Kim, Baek-Kyu

    2016-04-01

    Straight-line closure repair of unilateral cleft lips was first introduced in the 1840s, and since then, many different techniques have been attempted for cleft repair. However, these methods have several disadvantages and are difficult to adopt. In this study, we describe our novel technique, known as Straight-Line Advanced Release Technique (StART), and its application in treating several cases of unilateral cleft lip. The preoperative design of the surgical method is drawn on the skin, the vermilion, and the oral mucosa. A total of 13 points are marked (points 0-12). The A flap, B flap, triangular flap, M (medial mucosal) flap, and L (lateral mucosal) flap are designed. After completion of the preoperative marking, the wide dissection is performed to separate the orbicularis oris muscle completely from the abnormally inserted bony structure and the enveloped skin-mucosal flap. The freed orbicularis oris muscle is then reconstructed with full width. After all planes of the lip wound are closed, a straight vertical skin suture line is achieved without any unnecessary transverse scar. Unilateral cleft lip repair using StART was conducted in 145 patients between 1993 and 2012. Cases of microform cleft lip were excluded. A total of 21 patients (14%) required a secondary operation on the lip after the first unilateral cheiloplasty. In all patients, satisfactory surgical outcomes were obtained with an indistinct straight-lined scar and a well-aligned lip contour. To acquire a natural and balanced shape in unilateral cleft lip repair, we recommend the novel StART.

  8. Otolaryngology Service Usage in Children With Cleft Palate.

    PubMed

    Whittemore, Kenneth R; Dargie, Jenna M; Dornan, Briana K; Boudreau, Brian

    2018-05-01

    To determine the usage of otolaryngology services by children with cleft palate at a pediatric tertiary care facility. Retrospective case series. Specialty clinic at a pediatric tertiary care hospital. Children born between January 1, 1999, and December 31, 2002, with the diagnosis of cleft palate or cleft lip and palate. A total of 41 female and 48 male patients were included. Total number of otolaryngology clinic visits and total number of otolaryngologic surgeries (tympanostomy tube placements and other otologic or upper airway procedures). In the first 5 years of life, these children utilized an average of 8.2 otolaryngology clinic visits (SD = 5.0; range: 1-22) and underwent 3.3 tympanostomy tube surgeries (SD = 2.0; range: 0-10). Seventy-three had their first tube placed at the time of palate repair, and 4 at the time of lip repair. Fifty-one (57.3%) required other otologic or upper airway procedures, including tonsillectomy and/or adenoidectomy (27 children), removal of tympanostomy tubes (24 children), tympanomastoidectomy (3 children), and tympanoplasty (14 children). Of the children who underwent other procedures, they underwent a mean of 1.67 (SD = 0.84; range: 1-4) surgeries. Children with cleft palate are at increased risk for eustachian tube dysfunction, frequently utilize otolaryngology care, and typically receive multiple sets of tympanostomy tubes. This study found that children with cleft palate receive on average of approximately 3 sets of tympanostomy tubes, and the majority required another otologic or upper airway surgery.

  9. A Relationship between nasolabial appearance and self-esteem in adolescent with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center.

    PubMed

    Patjanasoontornm, Niramol; Wongniyom, Kusalapom; Pradubwong, Suteera; Piyavhakul, Navanant; Chowchuen, Bowornsilp

    2014-10-01

    To examine levels of self-esteem of adolescents with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center and its correlation with nasolabial appearance. Across-sectional survey of 93 adolescents with repaired cleft lip and palate. A total nasolabial appearance score was 2.8 +/- 0.36 (fair to good). The mean of the total self-esteem score for all respondents was 20.11 +/- 3.27 (maximum 30). There was no-significant correlation between nasolabial appearance and self esteem (Pearson product-moment correlation coefficiency (r) = 0.18, p = 0.08. The self-esteem scores of good, fair and poor appearance were 20.5 +/- 0.98, 19.8 +/- 0.32, 19 +/- 2.09 respectively. The nasolabial appearance of repaired cleft lip and palate not be the only factor but other psychosocialfactors also may play a role in their self-esteem. The analysis of this study found no relationship between self-esteem and appearance.

  10. Current national incidence, trends, and health care resource utilization of cleft lip-cleft palate.

    PubMed

    Basseri, Benjamin; Kianmahd, Benjamin D; Roostaeian, Jason; Kohan, Emil; Wasson, Kristy L; Basseri, Robert J; Bradley, James P

    2011-03-01

    Available reports on the epidemiology of cleft lip, cleft palate, and cleft lip-cleft palate have been numerous yet inconsistent, and have originated only from institutional or regional studies. The need for current national data and the recognition of recent trends exists. The authors examined the Kids' Inpatient Database to obtain national information on pediatric orofacial cleft discharges from 1997 to 2007. The authors examined patient and hospital characteristics to discern differences in use of care, hospital charges, type of hospital, untoward events, and other variables among various groups. A detailed investigation searching for significant trends during the 6-year study period was also conducted. Trends appreciated from 1997 to 2007 included (1) an increase in cleft operations performed at teaching hospitals compared with nonteaching hospitals (teaching increased 13.4 percent and nonteaching decreased 15.8 percent); (2) an increase in the mean overall charges (74.5 percent increase; p < 0.001) and a rate of rise higher than that of aggregate charges (60 percent; p < 0.001); and (3) a lower rate of perioperative complications in teaching hospitals from 2000 to 2007, ranging from 14 to 27 percent less than in nonteaching hospitals. The authors' data show that there is a current trend of cleft patients receiving treatment at teaching hospitals, with higher costs and decreasing complications. An understanding of such trends and disparities in resource use among various patient, hospital, and geographic settings is important for physicians and policy makers.

  11. Recognition of children on age-different images: Facial morphology and age-stable features.

    PubMed

    Caplova, Zuzana; Compassi, Valentina; Giancola, Silvio; Gibelli, Daniele M; Obertová, Zuzana; Poppa, Pasquale; Sala, Remo; Sforza, Chiarella; Cattaneo, Cristina

    2017-07-01

    The situation of missing children is one of the most emotional social issues worldwide. The search for and identification of missing children is often hampered, among others, by the fact that the facial morphology of long-term missing children changes as they grow. Nowadays, the wide coverage by surveillance systems potentially provides image material for comparisons with images of missing children that may facilitate identification. The aim of study was to identify whether facial features are stable in time and can be utilized for facial recognition by comparing facial images of children at different ages as well as to test the possible use of moles in recognition. The study was divided into two phases (1) morphological classification of facial features using an Anthropological Atlas; (2) algorithm developed in MATLAB® R2014b for assessing the use of moles as age-stable features. The assessment of facial features by Anthropological Atlases showed high mismatch percentages among observers. On average, the mismatch percentages were lower for features describing shape than for those describing size. The nose tip cleft and the chin dimple showed the best agreement between observers regarding both categorization and stability over time. Using the position of moles as a reference point for recognition of the same person on age-different images seems to be a useful method in terms of objectivity and it can be concluded that moles represent age-stable facial features that may be considered for preliminary recognition. Copyright © 2017 The Chartered Society of Forensic Sciences. Published by Elsevier B.V. All rights reserved.

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

    PubMed

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

    2013-05-01

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

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

    PubMed Central

    Skuladottir; Wilcox; McConnaughey; Vindenes; Lie

    2014-01-01

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

  14. Treatment of velopharyngeal inadequacy in a patient with submucous cleft palate and myasthenia gravis.

    PubMed

    Rikihisa, Naoaki; Udagawa, Akikazu; Yoshimoto, Shinya; Ichinose, Masaharu; Kimura, Tomoe; Shimizu, Sara

    2009-09-01

    To describe the clinical course and management of a patient with submucous cleft palate who developed myasthenia gravis (MG) as an adult and suffered recurrent hypernasality. Few reports have described MG patients undergoing pharyngeal flap surgery for velopharyngeal incompetence, and these have described only slight speech improvement in such patients. Case report. The patient underwent primary pushback palatoplasty and superiorly based pharyngeal flap surgery for submucous cleft and short palate at age 7. Hypernasality showed major improvement after initial surgery. At age 19, the patient developed MG that triggered the recurrence of velopharyngeal incompetence. After MG was treated, revision pushback palatoplasty was performed for velopharyngeal incompetence when the patient was 24 years old. Preoperatively and postoperatively, the patient was evaluated by the same speech-language-hearing therapists, each with at least 5 years of clinical experience in cleft palate speech. After the second pushback palatoplasty, hypernasality and audible nasal air emission during speech decreased to mild. Primary pushback palatoplasty and pharyngeal flap surgery were performed for the submucous cleft palate. Revision pushback palatoplasty improved velopharyngeal inadequacy induced by MG. Decreased perceived nasality positively influenced the patient's quality of life. Combined pushback palatoplasty and pharyngeal flap surgery is thus an option in surgical treatment for velopharyngeal inadequacy to close the cleft and the velopharyngeal orifice in cases of cleft palate and MG.

  15. Acupuncture treatment of facial palsy.

    PubMed

    Bokhari, Syed Zahid Hussain; Zahid, Syeda Samina

    2010-01-01

    Bell's palsy is an idiopathic, acute peripheral-nerve palsy involving the facial nerve which supplies all the muscles of facial expression. This study was conducted to evaluate the effects of electro-A=acupuncture on patients with facial palsy. This study was conducted on patients with facial palsy at a private clinic at Peshawar during 1999-2009, and 49 cases were included in the study. All those cases that were within first two weeks of illness or who had related history of stroke or they had upper motor neuron lesion were not included in the study. Electroacupuncture was used as the main therapeutic technique to treat these cases. Patients were subjected to acupuncture treatment at four major points on the face for 20-25 minutes everyday for 10 days. Specific points were used for nasolabial fold and watering of the eye. After rest for a week patients were again evaluated and another course of treatment comprising of 5-10 days was sufficient in most cases. Frequency of electro-acupuncture is kept at 60-80 cycles per minute. Total number of patients studied was 49 with duration of illness as early as 3 weeks to a year and above. Cases with duration of illness from 3 weeks onward showed rapid recovery of palsy symptoms with electro-acupuncture. All cases showed recovery. Palsy of the angle of the mouth did not recover completely. Electro-acupuncture is effective in treating facial palsy cases.

  16. First branchial cleft anomaly presenting as a recurrent post-auricular abscess.

    PubMed

    Siddiq, M A

    2003-01-01

    Embryological anomalies of the first branchial cleft are uncommonly encountered. They usually present as cysts, swellings, or fistulas in the pre-auricular or post-auricular area or high in the neck, which may become infected. Failure to recognise these unusual cases may result in misdiagnosis, inadequate treatment, and subsequent recurrence. Further definitive surgery may thus be complicated. A case is reported of a patient who attended accident and emergency on three occasions with an infected post-auricular cyst, which was treated by incision and drainage. It was subsequently found to be a first branchial cleft anomaly.

  17. Birth defects observed with maternal carbimazole treatment: Six cases reported to Nice's Pharmacovigilance Center.

    PubMed

    Koenig, D; Spreux, A; Hiéronimus, S; Chichmanian, R-M; Bastiani, F; Fénichel, Patrick; Brucker-Davis, F

    2010-12-01

    To report cases of embryopathy occurring following first trimester exposure to anti-thyroid drugs. Retrospective screening of the database of our Pharmacovigilance Center from 1987 to date. We report six cases of embryopathy, all following carbimazole exposure during the first trimester: two cases of abdominal wall defect, including one associated with facial dysmorphia; one case of digestive malformation (patent omphalomesenteric duct); two cases of aplasia cutis including one with facial dysmorphism; one case of bilateral choanal atresia with aorta coarctation associated with poorly controlled insulin dependent diabetes. Four out of five patients were euthyroid with treatment during the first trimester. We found a context suggesting genetic predisposition to congenital malformation in three cases: two cases of parental cleft lip/palate, one case of consanguinity. Outcome was favorable in all cases. We want to raise awareness about the potential teratogenicity of carbimazole, probably on a predisposed genetic background. We suggest better reporting of congenital anomalies in children of women with Graves'disease, with or without in utero exposure to anti-thyroid drugs. In light of current literature, propylthiouracil should be the first line treatment for hyperthyroid women wishing a pregnancy. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  18. Emotional and behavioral reactions to facially deformed patients before and after craniofacial surgery.

    PubMed

    Barden, R C; Ford, M E; Wilhelm, W M; Rogers-Salyer, M; Salyer, K E

    1988-09-01

    The present experiment investigated whether observers' emotional and behavioral reactions to facially deformed patients could be substantially improved by surgical procedures conducted by well-trained specialists in an experienced multidisciplinary team. Also investigated was the hypothesis that emotional states mediate the effects of physical attractiveness and facial deformity on social interaction. Twenty patients between the ages of 3 months and 17 years were randomly selected from over 2000 patients' files of Kenneth E. Salyer of Dallas, Texas. Patient diagnoses included facial clefts, hypertelorism, Treacher Collins syndrome, and craniofacial dysostoses (Crouzon's and Apert's syndromes). Rigorously standardized photographs of patients taken before and after surgery were shown to 22 "naive" raters ranging in age from 18 to 54 years. Raters were asked to predict their emotional and behavioral responses to the patients. These ratings indicated that observers' behavioral reactions to facially deformed children and adolescents would be more positive following craniofacial surgery. Similarly, the ratings indicated that observers' emotional reactions to these patients would be more positive following surgery. The results are discussed in terms of current sociopsychologic theoretical models for the effects of attractiveness on social interaction. A new model is presented that implicates induced emotional states as a mediating process in explaining the effects of attractiveness and facial deformity on the quality of social interactions. Limitations of the current investigation and directions for future research are also discussed.

  19. Herpes simplex 1 stomatitis after cleft palate repair: a case report and guidelines for management.

    PubMed

    Evangelista, Maristella S; Tracy, Lauren; Wells, James H

    2015-05-01

    Herpes simplex virus (HSV) primary infection and reactivation has been associated with the inflammation and transient decrease in immunocompetence after surgery and local trauma. In addition, HSV infection is known to impair wound healing, increase risk of scarring, and impede connective tissue graft transplantation. To our knowledge, this is the first case of HSV infection complicating cleft palate repair presented in literature. In this report, we present a case of primary HSV infection occurring in a healthy 26-month-old patient after repair of the secondary cleft palate with mucoperichondrial flaps and V-Y pushback. The patient developed high fever on postoperative day 1, which was followed by perioral vesicular lesions and multiple intraoral ulcerations involving the lips, palate, and posterior pharynx. Unknown to the surgeons, the patient was exposed to HSV before surgery by a sibling with orolabial HSV infection. The infective cause was ascertained via polymerase chain reaction for HSV-1 DNA, and the infection was treated with topical and intravenous acyclovir for 1 week. The patient recovered well with adequate flap healing, good aesthetic outcome, and no complications on 1-month follow-up. This report underscores the importance of prompt recognition of herpetic infections in the patient with craniofacial surgery and reviews the association and complications of HSV infection in surgical healing. Early identification with prompt antiviral therapy and meticulous wound care are essential to ameliorate the scarring and delayed wound healing associated with HSV infection.

  20. Cleft Lip and Palate

    MedlinePlus

    ... be a combination of two things: Genes . Both mothers and fathers can pass on a gene or genes that cause cleft palate or cleft lip. Environmental factors (outside influences). Pregnant women who take certain medicines — such ...

  1. Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case

    PubMed Central

    Cortez-Ortega, Carolina; Flores-Velázquez, Joselín; Ruiz-Rodríguez, Socorro; Noyola-Frías, Miguel Ángel; Santos-Díaz, Miguel Ángel

    2017-01-01

    Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate. PMID:28246561

  2. Automated Facial Recognition of Computed Tomography-Derived Facial Images: Patient Privacy Implications.

    PubMed

    Parks, Connie L; Monson, Keith L

    2017-04-01

    The recognizability of facial images extracted from publically available medical scans raises patient privacy concerns. This study examined how accurately facial images extracted from computed tomography (CT) scans are objectively matched with corresponding photographs of the scanned individuals. The test subjects were 128 adult Americans ranging in age from 18 to 60 years, representing both sexes and three self-identified population (ancestral descent) groups (African, European, and Hispanic). Using facial recognition software, the 2D images of the extracted facial models were compared for matches against five differently sized photo galleries. Depending on the scanning protocol and gallery size, in 6-61 % of the cases, a correct life photo match for a CT-derived facial image was the top ranked image in the generated candidate lists, even when blind searching in excess of 100,000 images. In 31-91 % of the cases, a correct match was located within the top 50 images. Few significant differences (p > 0.05) in match rates were observed between the sexes or across the three age cohorts. Highly significant differences (p < 0.01) were, however, observed across the three ancestral cohorts and between the two CT scanning protocols. Results suggest that the probability of a match between a facial image extracted from a medical scan and a photograph of the individual is moderately high. The facial image data inherent in commonly employed medical imaging modalities may need to consider a potentially identifiable form of "comparable" facial imagery and protected as such under patient privacy legislation.

  3. Intrafamilial and interfamilial variability of phenotype in familial velo-cardio-facial syndrome

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

    Hajianpour, M.J.; Lamb, A.; Covle, M.

    Two half-sisters and their mother from one family, and two full-brothers and their mother from another family presented with features of velo-cardio-facial syndrome (VCSF)/DiGeorge syndrome (DS) with intrafamilial and interfamilial variability of phenotypic expression. None of these patients had an apparent cleft palate. Cardiac anomaly, jejunal atresia and hypocalcemia were present only in the newborn patient. Fluorescence in situ hybridization for VCFS/DS with probe D22S75 showed a deletion in the 22q11.2 region in patients available for the study.

  4. Muscle fiber diameter assessment in cleft lip using image processing.

    PubMed

    Khan, M F J; Little, J; Abelli, L; Mossey, P A; Autelitano, L; Nag, T C; Rubini, M

    2018-04-01

    To pilot investigation of muscle fiber diameter (MFD) on medial and lateral sides of the cleft in 18 infants with cleft lip with or without cleft palate (CL/P) using image processing. Formalin-fixed paraffin-embedded (FFPE) tissue samples from the medial and lateral sides of the cleft were analyzed for MFD using an image-processing program (ImageJ). For within-case comparison, a paired Student's t test was performed. For comparisons between classes, an unpaired t test was used. Image processing enabled rapid measurement of MFD with majority of fibers showing diameter between 6 and 11 μm. There was no significant difference in mean MFD between the medial and lateral sides, or between CL and CLP. However, we found a significant difference on the medial side (p = .032) between males and females. The image processing on FFPE tissues resulted in easy quantification of MFD with finding of a smaller MFD on the medial side in males suggesting possible differences in orbicularis oris (OO) muscle between the two sexes in CL that warrants replication using larger number of cases. Moreover, this finding can aid subclinical phenotyping and potentially in the restoration of the anatomy and function of the upper lip. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. All rights reserved.

  5. A Comparative Cost Analysis of Cleft Lip Adhesion and Nasoalveolar Molding before Formal Cleft Lip Repair.

    PubMed

    Shay, Paul L; Goldstein, Jesse A; Paliga, J Thomas; Wink, Jason; Jackson, Oksana A; Low, David; Bartlett, Scott P; Taylor, Jesse A

    2015-12-01

    Patients with complete cleft lip and palate may benefit from cleft lip adhesion or nasoalveolar molding before formal cleft lip repair. The authors compared the relative costs to insurers of these two treatment modalities and the burden of care to families. A retrospective analysis was performed of cleft lip and palate patients treated with nasoalveolar molding or cleft lip adhesion at The Children's Hospital of Philadelphia between January of 2007 and June of 2012. Demographic, appointment, and surgical data were reviewed; surgical, inpatient hospital, and orthodontic charges and costs were obtained. Multivariate linear regression and two-sample, two-tailed independent t tests were performed to compare cost and appointment data between groups. Forty-two cleft adhesion and 35 nasoalveolar molding patients met inclusion criteria. Mean costs for nasoalveolar molding were $3550.24 ± $667.27. Cleft adhesion costs, consisting of both hospital and surgical costs, were $9370.55 ± $1691.79. Analysis of log costs demonstrated a significant difference between the groups, with the mean total cost for nasoalveolar molding significantly lower than that for adhesion (p < 0.0001). Nasoalveolar molding patients had significantly more made, cancelled, no-show, and missed visits and a higher missed percentage than adhesion patients (p < 0.0001) for all except no-show appointments, (p = 0.0199), indicating a higher burden of care to families. Nasoalveolar molding may cost less before formal cleft lip repair treatment than cleft lip adhesion. Third-party payers who cover adhesion and not nasoalveolar molding may not be acting in their own best interest. Nasoalveolar molding places a higher burden of care on families, and this fact should be considered in planning treatment.

  6. Facial Firework Injury: A Case Series

    PubMed Central

    Tadisina, Kashyap Komarraju; Abcarian, Ariane; Omi, Ellen

    2014-01-01

    Fireworks are used to celebrate a variety of religious, patriotic, and cultural holidays and events around the world. Fireworks are common in the United States, with the most popular holiday for their use being national Independence Day, also known as July Fourth. The use of fireworks within the context of celebrations and holidays presents the ideal environment for accidents that lead to severe and dangerous injuries. Injuries to the face from explosions present a challenging problem in terms of restoring ideal ocular, oral, and facial function. Despite the well documented prevalence of firework use and injury, there is a relatively large deficit in the literature in terms of firework injury that involves the face. We present a unique case series that includes 4 adult male patients all with severe firework injuries to the face that presented at an urban level 1 trauma center. These four patients had an average age of 26.7 years old and presented within 5 hours of each other starting on July Fourth. Two patients died from their injuries and two patients underwent reconstructive surgical management, one of which had two follow up surgeries. We explore in detail their presentation, management, and subsequent outcomes as an attempt to add to the very limited data in the field of facial firework blast injury. In addition, the coincidence of their presentation within the same 5 hours brings into question the availability of the fireworks involved, and the possibility of similar injuries related to this type of firework in the future. PMID:25035740

  7. Facial firework injury: a case series.

    PubMed

    Tadisina, Kashyap K; Abcarian, Ariane; Omi, Ellen

    2014-07-01

    Fireworks are used to celebrate a variety of religious, patriotic, and cultural holidays and events around the world. Fireworks are common in the United States, with the most popular holiday for their use being national Independence Day, also known as July Fourth. The use of fireworks within the context of celebrations and holidays presents the ideal environment for accidents that lead to severe and dangerous injuries. Injuries to the face from explosions present a challenging problem in terms of restoring ideal ocular, oral, and facial function. Despite the well documented prevalence of firework use and injury, there is a relatively large deficit in the literature in terms of firework injury that involves the face. We present a unique case series that includes 4 adult male patients all with severe firework injuries to the face that presented at an urban level 1 trauma center. These four patients had an average age of 26.7 years old and presented within 5 hours of each other starting on July Fourth. Two patients died from their injuries and two patients underwent reconstructive surgical management, one of which had two follow up surgeries. We explore in detail their presentation, management, and subsequent outcomes as an attempt to add to the very limited data in the field of facial firework blast injury. In addition, the coincidence of their presentation within the same 5 hours brings into question the availability of the fireworks involved, and the possibility of similar injuries related to this type of firework in the future.

  8. 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

    aesthetically improved outcome. Indications for surgery include widened scars, lip contour deformities, shortened lips, poorly defined and flattened nasal tip, short columella and irregularities of the nostrils (narrow or high-riding) and cartilages. Wound dehiscence, contractures, vermilion notching, white roll malalignment and orovestibular fistulas are possible unfavourable results after cleft lip repair. The psychological status of children and adults with repaired cleft lip and palate has been the subject of extensive research especially regarding the way of their evaluation facial appearance, satisfaction and need for secondary corrective surgical procedures in the hope of increasing their self-esteem and self-confidence. The aim of this study was to assess secondary CLP deformity management in an accredited present-day tertiary hospital facility with an existing infrastructure of a specialist teams however not formed in a multidisciplinary group. Equally, to answer questions of specific operation indications and choice as related to prior surgeries, hospitalization time and cost, provision of adequate preoperative information, correlation between paediatric and plastic surgeons and effect of post-plastic surgical care on patients' health and well-being. It also aims at presenting, beyond our current primary cleft lip and palate repair approach, appropriate indications and timing of secondary repair and achieved results.

  9. Case report of a p16INK4A-positive branchial cleft cyst.

    PubMed

    McLean, T; Iseli, C; Amott, D; Taylor, M

    2015-06-01

    To report the occurrence of a concurrent oropharyngeal papilloma and branchial cleft cyst linked by p16(INK4A) and human papillomavirus immunohistochemistry. A 42-year-old woman presented with a 1-month history of a left lateral neck mass. Contrast enhanced computed tomography showed a hypodense lesion 20 mm in diameter anteromedial to the left sternocleidomastoid muscle. Ultrasound-guided fine needle aspiration suggested a branchial cleft cyst. Panendoscopy was performed at the time of neck mass removal, and a papillomatous lesion was removed from the left hypopharynx. Histopathological analysis showed the neck lesion to be a branchial cyst containing lymphoid tissue, and the oral lesion to be a squamous papilloma. Immunohistochemical analysis showed both the branchial cleft cyst and papilloma to be positive for p16(INK4A) expression and human papillomavirus DNA. Histological and immunohistochemical analyses support the cystic transformation of lymph nodes, or the 'Inclusion Theory', as the aetiology of branchial apparatus anomalies, and raise the possibility that human papillomavirus infection may play a much larger role in disease of the head and neck than previously supposed.

  10. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    RUTHERFORD, DAVID; WESTLAKE, HAROLD

    DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

  11. Maternal occupational cadmium exposure and nonsyndromic orofacial clefts.

    PubMed

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

    2018-04-17

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

  12. Local Wound Care for Primary Cleft Lip Repair: Treatment and Outcomes With use of Topical Hydrogen Peroxide.

    PubMed

    Strong, Amy L; Nauta, Allison C; Kuang, Anna A

    2015-12-01

    This study highlights and validates a peroxide-based wound healing strategy for treatment of surgically closed facial wounds in a pediatric population. The authors identified pediatric patients undergoing primary cleft lip repair as a specific population to evaluate the outcomes of such a protocol. Through analysis of defined outcome measures, a reliable and reproducible protocol for postoperative wound care following primary cleft lip repair with favorable results is described. This retrospective study analyzes wound healing outcomes in pediatric patients undergoing primary cleft lip repair from 2006 to 2011 at a tertiary academic center. The wound healing protocol was used in both primary unilateral and bilateral repairs. One hundred fortysix patients between the ages of 0 and 4 years underwent primary cleft lip repair and cleft rhinoplasty by a single, fellowship-trained craniofacial surgeon. Postoperatively, wounds were treated with half-strength hydrogen peroxide and bacitracin, as well as scar massage. Incisional dehiscence, hypertrophic scar formation, discoloration, infection, and reoperation were studied. Outcomes were evaluated in light of parent compliance, demographics, preoperative nasoalveolar molding (PNAM), and diagnosis. The authors identified 146 patients for inclusion in this study. There was no wound or incisional dehiscence. One hundred twenty-four patients demonstrated favorable cosmetic outcome. Only 3 (2%) of patients who developed suboptimal outcomes underwent secondary surgical revision (> 1 year after surgery). Demographic differences were not statistically significant, and PNAM treatment did not influence outcomes. These data validate the use of halfstrength hydrogen peroxide and bacitracin as part of a wound healing strategy in pediatric incisional wounds. The use of hydrogen peroxide produced comparable outcomes to previously published studies utilizing other wound healing strategies and, therefore, these study findings support the

  13. [Diagnosis and surgical operation for fourth branchial cleft anomalies].

    PubMed

    Zhu, Ting; Hua, Qingquan

    2011-11-01

    To explore diagnosis and surgical operation through analyzing clinical features of the fourth branchial cleft anomalies. Clinical materials of 10 patients with the fourth branchial cleft anomalies were retrospectively analyzed, and literatures were studied to explore the diagnosis, differential diagnosis and treatment methods of surgical operation; lesions of 10 patients were completely removed by surgical operation, and internal sinus was properly handled. All 10 cases were cured, no recurrence were observed during a follow-up of 1-3 years. 1 patient appeared low voice, and drinking cough, back to normality after 2 weeks; 1 patient appeared paralysis of left hypoglossal nerves, back to normality after 3 months. Recurrent deep neck abscess and chronic sinus infections of anterior area in the lower part of neck should be considered with the diagnosis of the fourth branchial cleft anomalies. Enhanced neck CT scan and barium sulfate meal examination aid to diagnosis, pathological examination can be confirmed. Complete surgical removal of lesions is an effective treatment of fourth branchial cleft anomalies, knowing of the courses of internal sinus and spread of infection, and use of principle of selective neck dissection is the key to ensure complete removal of lesions.

  14. Use of autologous platelet-rich plasma in complete cleft palate repair.

    PubMed

    El-Anwar, Mohammad Waheed; Nofal, Ahmed Abdel Fattah; Khalifa, Mohamed; Quriba, Amal Saeed

    2016-07-01

    Evaluate the effect of topical application of autologous platelet-rich plasma (PRP) in primary repair of complete cleft palate and then compare the result with another group of patients using the same surgical technique, without application of PRP with regard to the incidence of oronasal fistula, velopharyngeal closure, and grade of nasality. Case control study. This study was carried on 44 children with complete cleft palate with age range from 12 to 23 months. The children were divided into two age- and gender-matched groups: All children were subjected to the same technique of V-Y pushback repair of the complete cleft palate. In group A (22 children), the PRP prepared from the patient was topically applied between the nasal and oral mucosa layer during palatoplasty, whereas in group B (22 children) the PRP was not applied. All cases were recovered smoothly without problems. In group A, no oronasal fistula was reported, whereas in group B three patients (13.6%) had postoperative fistulae and two patients (9.1%) needed revision palatoplasty. At 6 months postoperative assessment, group A (with PRP application) showed significantly better grade of nasality (P = 0.024) and better endoscopic velopharyngeal closure (P = 0.016) than group B. Usage of autologous PRP in complete cleft palate repair is simple; effective; can decrease the incidence of oronasal fistula; and also significantly improves the grade of nasality and velopharyngeal closure, which decreases the need of further surgical intervention in cleft palate patients. 3b. Laryngoscope, 126:1524-1528, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  15. Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

    PubMed

    Quintero-Rivera, Fabiola; Martinez-Agosto, Julian A

    2013-08-01

    Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9-month-old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right-sided muscular torticollis, esotropia, and an atretic right ear canal with low-to-moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1-q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony. Copyright © 2013 Wiley Periodicals, Inc.

  16. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

    PubMed

    Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

    2017-04-01

    Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

  17. Fine needle aspiration cytology versus frozen section in branchial cleft cysts.

    PubMed

    Begbie, F; Visvanathan, V; Clark, L J

    2015-02-01

    Branchial cleft cysts occur because of a failure of involution of the second branchial cleft. However, as well-differentiated squamous cell carcinoma can mimic branchial cleft cysts, there is a lack of consensus on the appropriate management of cystic neck lumps. To report our experience of fine needle aspiration cytology and frozen section examination in the management of cystic neck lumps. Retrospective case note review of patients managed in the Southern General Hospital, Scotland, UK. The sensitivity of fine needle aspiration cytology and frozen section for detecting branchial cleft cysts was 75 per cent and 100 per cent respectively. Two patients who did not undergo intra-operative frozen section examination were either over- or under-treated, which is discussed. Adult patients subjected to surgical excision of a suspected branchial cyst should undergo intra-operative frozen section analysis regardless of clinical suspicion for malignancy. This part of management is critical to ensure patients are offered appropriate treatment.

  18. A 12-year anthropometric evaluation of the nose in bilateral cleft lip-cleft palate patients following nasoalveolar molding and cutting bilateral cleft lip and nose reconstruction.

    PubMed

    Garfinkle, Judah S; King, Timothy W; Grayson, Barry H; Brecht, Lawrence E; Cutting, Court B

    2011-04-01

    Patients with bilateral cleft lip-cleft palate have nasal deformities including reduced nasal tip projection, widened ala base, and a deficient or absent columella. The authors compare the nasal morphology of patients treated with presurgical nasoalveolar molding followed by primary lip/nasal reconstruction with age-matched noncleft controls. A longitudinal, retrospective review of 77 nonsyndromic patients with bilateral cleft lip-cleft palate was performed. Nasal tip protrusion, alar base width, alar width, columella length, and columella width were measured at five time points spanning 12.5 years. A one-sample t test was used for statistical comparison to an age-matched noncleft population published by Farkas. All five measurements demonstrated parallel, proportional growth in the treatment group relative to the noncleft group. The nasal tip protrusion, alar base width, alar width, columella length, and columella width were not statistically different from those of the noncleft, age-matched control group at age 12.5 years. The nasal tip protrusion also showed no difference in length at 7 and 12.5 years. The alar width and alar base width were significantly wider at the first four time points. This is the first study to describe nasal morphology following nasoalveolar molding and primary surgical repair in patients with bilateral cleft lip-cleft palate through the age of 12.5 years. In this investigation, the authors have shown that patients with bilateral cleft lip-cleft palate treated at their institution with nasoalveolar molding and primary nasal reconstruction, performed at the time of their lip repair, attained nearly normal nasal morphology through 12.5 years of age.

  19. The Effect of Cleft Size in Infants With Unilateral Cleft Lip and Palate on Mixed Dentition Dental Arch Relationship.

    PubMed

    Russell, Lisa M; Long, Ross E; Romberg, Elaine

    2015-09-01

    To determine the relationship between infant cleft size and dental arch relationship in the mixed dentition in patients with complete unilateral cleft lip and palate. Retrospective analysis of mixed longitudinal records. A total of 29 consecutively enrolled patients with unilateral cleft lip and palate participated in a longitudinal study that included dental casts prior to lip surgery (T1: age 1 month), prior to palate surgery (T2: age 10 months), and in mixed dentition (T3: age 9 years). All infants were managed with lip repair (2.5 months), hard palate repair (12 months), and soft palate repair (16 months) but without any presurgical orthopedic treatment and no orthodontic intervention prior to mixed dentition records. The outcome measures included determination of an infant cleft severity ratio, defined as the ratio of palatal cleft area to palatal surface area, at both T1 and T2, and the 9-year-old (T3) dental arch relationship as determined using the GOSLON Yardstick. The correlation between the infant cleft severity ratio at T1 and T2 and the later GOSLON Yardstick score at T3 was determined using Pearson r. The intrarater reliability of the infant cleft severity ratio was assessed with Pearson r and the interrater reliability of the GOSLON Yardstick ratings, by weighted kappa. Reliability for the infant cleft severity ratio method was r = .92 to .95, and for GOSLON ratings κ = .81 to .91. There was no significant correlation between 1-month infant cleft severity ratio and GOSLON (r = .3) and 10-month infant cleft severity ratio and GOSLON (r = .1). Cleft size versus the amount of palatal tissue available for repair and concern over more scarring with a greater infant cleft severity ratio were not factors in affecting the eventual dental arch relationship.

  20. Nasal Glial Heterotopia with Cleft Palate.

    PubMed

    Chandna, Sudhir; Mehta, Milind A; Kulkarni, Abhishek Kishore

    2018-01-01

    Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

  1. An unusual otoscopic finding associated with a type II first branchial cleft anomaly.

    PubMed

    Ebelhar, A J; Potts, K

    2012-03-01

    We report an interesting case involving a child with a branchial cleft anomaly with two fistulous tracts, one of which was associated with an unusual otoscopic finding. A seven-year-old girl presented with an apparent type II first branchial cleft cyst after an acute infection. Parotidectomy and excision of the tract were performed, with subsequent development of pre-auricular swelling three months later. Further surgery was performed to remove a second duplication anomaly of the external auditory canal. Otomicroscopy showed a fibrous band arising from the wall of the canal and attached to the tympanic membrane at the umbo. Otoscopic findings on physical examination can be important diagnostic clues in the early recognition of branchial cleft anomalies. The classification system proposed by Work may fail to describe some branchial cleft lesions.

  2. [Reconstruction of facial soft tissue defects with pedicled expanded flaps].

    PubMed

    Yangqun, Li; Yong, Tang; Wen, Chen; Zhe, Yang; Muxin, Zhao; Lisi, Xu; Chunmei, Hu; Yuanyuan, Liu; Ning, Ma; Jun, Feng; Weixin, Wang

    2014-09-01

    To investigate the application of pedicled expanded flaps for the reconstruction of facial soft tissue defects. The expanded skin flaps, pedicled with orbicularis oculi muscle, submental artery, the branch of facial artery, superficial temporal artery, interior upper arm artery, had similar texture and color as facial soft tissue. The pedicled expanded flaps have repaired the facial soft tissue defects. Between Jan. 2003 to Dec. 2013, 157 cases with facial soft tissue defects were reconstructed by pedicled expanded flaps. Epidermal necrosis happened at the distal end of 8 expanded flaps, pedicled with interior upper arm artery(4 cases), orbicularis oculi muscle(3 cases) and submental artery(1 case), which healed spontaneously after dressing. All the other flaps survived completely with similar color and inconspicuous scar. 112 cases were followed up for 8 months to 8 years. Satisfactory results were achieved in 75 cases. 37 cases with hypertrophic scar at incisions need secondary operation. Island pedicled expanded flap with similar texture and color as facial soft tissue is suitable for facial soft tissue defects. The facial extra-incision and large dog-ear deformity could be avoided.

  3. Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?

    PubMed

    Jaeger, April; Kapur, Raj; Whelan, Michael; Leung, Eric; Cunningham, Michael

    2003-06-01

    In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition. We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome. This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects Research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).

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

    PubMed

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

    2015-12-01

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

  5. 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.

  6. 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.

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

    PubMed

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

    2017-07-17

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

  8. The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

    USDA-ARS?s Scientific Manuscript database

    Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

  9. 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.

  10. [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

    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.

  11. Facial nerve mapping and monitoring in lymphatic malformation surgery.

    PubMed

    Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

    2009-10-01

    Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

  12. 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

  13. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.

    PubMed

    Richieri-Costa, A; Colletto, G M; Gollop, T R; Masiero, D

    1985-04-01

    We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto-brachy-poly-syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto-nasal "dysplasia" syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Clinical and genetic aspects of the present family are discussed.

  14. Molecular, clinical and political approaches to the problem of cleft lip and palate.

    PubMed

    Sandy, J R

    2003-02-01

    The oral facial complex in man appears to be exquisitively sensitive to genetic and environmental influences which is why clefts of the palate are the most common congenital birth anomaly. The development of the palate starts at about the 6th week of inter-uterine life and requires development of the palatal shelves from the maxillary processes of the first arch, shelf elevation, medial edge epithelial breakdown and mesenchyme flow with subsequent establishment of osteogenic and myogenic blastemata. This significant level of matrix turnover is partly regulated by the matrix metalloproteinases and potentially this could be affected by abnormalities in gene function. This may represent a common mechanism for a variety of different genes associated with clefting of the palate. The measurement of outcomes for children born with a cleft requires a wide input from a variety of specialities. The development of these outcome measures requires rigorous testing and validation, but it is now possible to use a variety of outcome measures to establish clinical standards and this has been done nationally. The impact of identifying a need for a change in organisation of service delivery was probably underestimated. It is clear that the current organisations in the National Health Service struggle to implement change, even with a detailed study and hard evidence. Reasons for this are outlined and a potential harder hitting strategy for effecting this change is outlined. The move towards primary care trusts within the latest reorganisation of the Health Service is potentially extremely damaging for specialised services for low incidence anomalies.

  15. A fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses.

    PubMed

    Tong, Fang; Liang, Yue; Khan, Muhammad Fasahat; Zhang, Lin; Li, Wenhe; Mahmoodurrahman, Mohammed; Zhou, Yiwu

    2016-09-15

    Branchial cleft anomalies constitute a frequently encountered and commonly non-lethal disease in otolaryngology, and result from aberrant embryonic development. The third branchial cleft fistula is one of the four known specific types of branchial cleft anomalies, and always presents as recurrent neck abscess and suppurative thyroiditis. Here, we report an unexpected death due to severe neck infection following a third branchial cleft fistula. A 19-year-old man was sent to the hospital with a 1-week history of recurrent left-sided neck abscess, and was scheduled for incision and drainage of the abscess. However, before the surgery was performed, the man's condition deteriorated and he died. A review of his medical history showed that he had undergone a previous incision and drainage for a neck abscess 2 years ago. Postmortem examination revealed that the fatal neck abscess was induced by a third branchial cleft fistula. We conclude that a histopathological examination of neck tissue combined with a detailed review of medical history and examination of ultrasonographic and CT images can provide a rapid and accurate diagnosis of third branchial cleft fistula. This common, non-lethal disease can potentially lead to death if the neck infection is not properly diagnosed and treated. In medico-legal practice, medical examiners should be aware of this condition, as this knowledge would be important in the diagnosis of the cause of death.

  16. [Velopharyngeal closure pattern and speech performance among submucous cleft palate patients].

    PubMed

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

    2017-06-01

    To characterize the velopharyngeal closure patterns and speech performance among submucous cleft palate patients. Patients with submucous cleft palate visiting the Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University between 2008 and 2016 were reviewed. Outcomes of subjective speech evaluation including velopharyngeal function, consonant articulation, and objective nasopharyngeal endoscopy including the mobility of soft palate, pharyngeal walls were retrospectively analyzed. A total of 353 cases were retrieved in this study, among which 138 (39.09%) demonstrated velopharyngeal competence, 176 (49.86%) velopharyngeal incompetence, and 39 (11.05%) marginal velopharyngeal incompetence. A total of 268 cases were subjected to nasopharyngeal endoscopy examination, where 167 (62.31%) demonstrated circular closure pattern, 89 (33.21%) coronal pattern, and 12 (4.48%) sagittal pattern. Passavant's ridge existed in 45.51% (76/167) patients with circular closure and 13.48% (12/89) patients with coronal closure. Among the 353 patients included in this study, 137 (38.81%) presented normal articulation, 124 (35.13%) consonant elimination, 51 (14.45%) compensatory articulation, 36 (10.20%) consonant weakening, 25 (7.08%) consonant replacement, and 36 (10.20%) multiple articulation errors. Circular closure was the most prevalent velopharyngeal closure pattern among patients with submucous cleft palate, and high-pressure consonant deletion was the most common articulation abnormality. Articulation error occurred more frequently among patients with a low velopharyngeal closure rate.

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

    PubMed

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

    2017-12-01

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

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

    PubMed

    Adetayo, Oluwaseun A; Martin, Mark C

    2012-05-01

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

  19. Presurgical nasoalveolar molding: A boon to facilitate the surgical repair in infants with cleft lip and palate

    PubMed Central

    Attiguppe, Prabhakar Ramasetty; Karuna, Y. M.; Yavagal, Chandrashekar; Naik, Saraswathi V.; Deepak, B. M.; Maganti, Rekhamani; Krishna, Chaithanya G.

    2016-01-01

    Cleft lip and palate (CLP) is the most common congenital craniofacial anomaly. Rehabilitation of CLP generally requires a team approach. Alveolar and nasal reconstruction for these patients is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap, so as to obtain esthetic results postsurgically. The presurgical nasoalveolar molding (PNAM) technique, developed by Grayson, is a new approach to presurgical infant orthopedics. PNAM reduces the severity of the initial cleft alveolar and nasal deformity. Thus, it enables the surgeon and the patient to enjoy the benefits associated with repair of a cleft deformity that is minimal in severity. This article presents a brief insight into PNAM with a case series of three different cases (one unilateral and two bilateral) which underwent PNAM treatment and gave an excellent surgical prognosis. PMID:27994432

  20. The development of the nursing care system for patients with cleft lip-palate and craniofacial deformities at Tawanchai Cleft Center, Srinagarind Hospital, Khon Kaen, Thailand.

    PubMed

    Pradubwong, Suteera; Pongpagatip, Sumalee; Volrathongchai, Kanittha; Chowchuen, Bowornsilp

    2012-11-01

    The highest incidence of cleft lip-palate and craniofacial deformities in Thailand occur in the Northeastern Region. There is the necessity for an interdisciplinary care team as well as the specialized care center with systematic coordinated care, thus "Tawanchai Cleft Center" is becoming a superior medical center for patients with cleft lip-palate and craniofacial deformities. Therefore, the development of the nursing care system for patients with cleft lip-palate and craniofacial deformities at Tawanchai Cleft Center, Srinagarind Hospital is extremely important and necessary. To develop the nursing care system appropriate for a super tertiary hospital (Tawanchai Cleft Center). It is a participation study which has 3 steps as follows, 1) Analyzing the situations and collecting the opinions of the 22 Out-patient Surgery Department staff and Tawanchai Cleft Center staff by using 6 questions, 2) Summarizing of the situation analysis from the meetings and the questionnaires, then using such summary as the guidelines for developing the nursing care system from January 2011 onwards, 3) evaluating the satisfaction after the 4 month development period (May-August 2011) with 106 caregivers by using 8 questions and being analyzed by the average value, percentage and standard deviation. 1) The nursing care system consisted of psychosocial care, breast feeding, counseling and other assistance as required. This various assistance responded to the patient/family problems by following the treatment guideline of the multidisciplinary team which uses the continuous evaluation processes for the holistic patient/family care. 2) The patients with complete cleft lip-palate were the most common type, found in 44 cases or 41.53 percent. The highest number of caregivers were mothers which were 68 percent; the average age of those mothers was 36 years old. The highest number of them finished elementary school at 43 percent and 40 percent were farmers. The satisfaction for the services of

  1. Centralisation of services for children with cleft lip or palate in England: a study of hospital episode statistics

    PubMed Central

    2012-01-01

    Background In 1998, a process of centralisation was initiated for services for children born with a cleft lip or palate in the UK. We studied the timing of this process in England according to its impact on the number of hospitals and surgeons involved in primary surgical repairs. Methods All live born patients with a cleft lip and/or palate born between April 1997 and December 2008 were identified in Hospital Episode Statistics, the database of admissions to English National Health Service hospitals. Children were included if they had diagnostic codes for a cleft as well as procedure codes for a primary surgical cleft repair. Children with codes indicating additional congenital anomalies or syndromes were excluded as their additional problems could have determined when and where they were treated. Results We identified 10,892 children with a cleft. 21.0% were excluded because of additional anomalies or syndromes. Of the remaining 8,606 patients, 30.4% had a surgical lip repair only, 41.7% a palate repair only, and 28.0% both a lip and palate repair. The number of hospitals that carried out these primary repairs reduced from 49 in 1997 to 13, with 11 of these performing repairs on at least 40 children born in 2008. The number of surgeons responsible for repairs reduced from 98 to 26, with 22 performing repairs on at least 20 children born in 2008. In the same period, average length of hospital stay reduced from 3.8 to 3.0 days for primary lip repairs, from 3.8 to 3.3 days for primary palate repairs, and from 4.6 to 2.6 days for combined repairs with no evidence for a change in emergency readmission rates. The speed of centralisation varied with the earliest of the nine regions completing it in 2001 and the last in 2007. Conclusions Between 1998 and 2007, cleft services in England were centralised. According to a survey among patients’ parents, the quality of cleft care improved in the same period. Surgical care became more consistent with current

  2. Maternal caffeine intake during pregnancy and orofacial clefts.

    PubMed

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

    2009-10-01

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

  3. Cervical vertebral maturation of children with orofacial clefts.

    PubMed

    Sun, Ling; Li, Wei Ran

    2012-11-01

    To evaluate the skeletal maturation of male children with orofacial clefts using the cervical vertebral maturation (CVM) method. Case-control study. The School of Stomatology, Peking University. Subjects were 443 boys with cleft lip and/or cleft palate (CL/P) aged 8 to 16 years who were compared with 1772 boys without clefts in an age-matched control group. The 8- to 10-year-old boys of both groups were in CS1. Most of the 11- to 14-year-old boys without CL/P were in CS3 and CS4, though it was not so obvious in boys with CL/P. Most 15- to 16-year-old boys without CL/P were in CS5 and CS6, while there were a lot of boys with CL/P who were still in cervical stages before CS5. Clefts had a significant effect on growth, and boys without CL/P were 1.737 times more likely to have achieved higher cervical stages. From Mann-Whitney test of every age phase, the difference existed in each year of the age range of 11 to 16 years, except from 12 to 13 years (p  =  .100). In these age phases, the cervical stages of boys with CL/P were lower than those for boys without CL/P. By the age of 14, children with CL/P had a 4.679 times higher risk of delayed CS3, and the 95% confidence interval for the odds ratio was 2.129 to 10.286. Boys with CL/P are at a higher risk of delayed growth period and retarded pubertal growth peak.

  4. Maxillary distraction osteogenesis in cleft lip and palate cases with midface hypoplasia using rigid external distractor: an alternative technique.

    PubMed

    Dua, Gaurav; Navin Kumar, Andrews; Roy, Indranil Deb; Roy, Supriyo Kumar

    2014-05-01

    Patients with operated cleft lip and palate present with a problem of midface hypoplasia, and such patients have been traditionally treated with orthognathic surgery. Such a procedure has its own limitations of relapse and hence a newer modality of distraction osteogenesis with histiogenesis can be chosen to overcome such limitations for midfacial advancement. The purpose of this study is to evaluate an alternative technique and its postoperative stability in maxillary distraction osteogenesis in patients of cleft lip and cleft palate using a rigid external device (RED). Nine patients with midface bone stock deficiency were selected for maxillary advancement. At the first surgery under general anesthesia, after Le Fort I osteotomy, RED system was used with the alternative technique. After distraction, evaluation was done for ease of the procedure, stability, and complications. Lateral cephalograms were evaluated at 3 stages: T1, pre-distraction; T2, post-distraction; and T3, 1 year post-distraction. A mean 13.4-mm midface advancement was shown with bone formation at the pterygomaxillary region without losing the vector and having a standby mode in case the wire broke during distraction The results were stable even at 1 year of follow-up. Maxillary position improved in relation to the cranial base. This study showed that the RED was versatile in midface advancement.

  5. TCDD disrupts posterior palatogenesis and causes cleft palate.

    PubMed

    Yamada, Tomohiro; Hirata, Azumi; Sasabe, Eri; Yoshimura, Tomohide; Ohno, Seiji; Kitamura, Naoya; Yamamoto, Tetsuya

    2014-01-01

    Dioxins (e.g. 2,3,7,8-tetrachlorodibenzo-p-dioxin; TCDD) cause cleft palate at a high rate. A post-fusional split may contribute to the pathogenesis, and tissue fragility may be a concern. The objective of this study was to investigate the effects of TCDD on the palatal epithelium, bone and muscle, which contribute to tissue integrity. ICR mice (10-12 weeks old) were used. TCDD was administered on E12.5 at 40 mg/kg. Immunohistochemical staining for AhR, ER-α, laminin, collagen IV, osteopontin, Runx2, MyoD, and desmin were performed. Furthermore, western blot analysis for osteopontin, Runx2, MyoD, and desmin were performed to evaluate protein expression in the palatal tissue. Immunohistologically, there was little difference in the collagen IV and laminin localization in the palatal epithelium between control versus TCDD-treated mice. Runx2 and osteopontin immunoreactivity decreased in the TCDD-treated palatal bone, and MyoD and desmin decreased in the TCDD-treated palatal muscle. AhR and ER-α immunoreactivity were localized to the normal palatal bone, but ER-α was diminished in the TCDD-treated palate. On western blot analysis, Runx2, MyoD, and desmin were all downregulated in the TCDD-treated palate. TCDD may suppress palatal osteogenesis and myogenesis via AhR, and cause cleft palates via a post-fusional split mechanism, in addition to a failure of palatal fusion. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

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

    PubMed Central

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

    2010-01-01

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

  7. Case Report of a Pressure Ulcer Occurring Over the Nasal Bridge Due to a Non-Invasive Ventilation Facial Mask.

    PubMed

    Rathore, Farooq A; Ahmad, Faria; Zahoor, Muhammad Umar U

    2016-10-03

    Non-invasive ventilation (NIV) is used in patients with respiratory failure, sleep apnoea, and dyspnoea related to pulmonary oedema. NIV is provided through a facial mask. Many complications of NIV facial masks have been reported, including the breakdown of facial skin. We report a case of an elderly male admitted with multiple co-morbidities. The facial mask was applied continuously for NIV, without any relief or formal monitoring of the underlying skin. It resulted in a Grade II pressure ulcer. We discuss the possible mechanism and offer advice for prevention of such device-related pressure ulcers.

  8. A Type I first branchial cleft cyst masquerading as a parotid tumor

    PubMed Central

    Krishnamurthy, Arvind; Ramshanker, Vijayalakshmi

    2014-01-01

    Branchial cleft anomalies are caused by incomplete regression of the cervical sinus of “His” during the 6th and 7th weeks of embryologic development. Although congenital in origin, first branchial cleft cysts (FBCCs) can present later in life. FBCCs are rare causes of parotid swellings, accounting for <1% of all the branchial cleft abnormalities. The diagnosis of FBCCs is a clinical challenge; the condition is often overlooked and mismanaged. We report a case of Type 1 FBCC in a 22-year-old female with an asymptomatic 3.5 cm × 2.5 cm sized cystic mass. It was removed completely under the impression of a cystic tumor of the parotid. On histopathology, the cyst had a squamous epithelium-lined wall with lymphoid aggregation which was characteristic of a branchial cleft cyst. A good understanding of the regional anatomy and embryology can lead to an early diagnosis and thereby effective management of FBCC. PMID:25298726

  9. A Type I first branchial cleft cyst masquerading as a parotid tumor.

    PubMed

    Krishnamurthy, Arvind; Ramshanker, Vijayalakshmi

    2014-01-01

    Branchial cleft anomalies are caused by incomplete regression of the cervical sinus of "His" during the 6(th) and 7(th) weeks of embryologic development. Although congenital in origin, first branchial cleft cysts (FBCCs) can present later in life. FBCCs are rare causes of parotid swellings, accounting for <1% of all the branchial cleft abnormalities. The diagnosis of FBCCs is a clinical challenge; the condition is often overlooked and mismanaged. We report a case of Type 1 FBCC in a 22-year-old female with an asymptomatic 3.5 cm × 2.5 cm sized cystic mass. It was removed completely under the impression of a cystic tumor of the parotid. On histopathology, the cyst had a squamous epithelium-lined wall with lymphoid aggregation which was characteristic of a branchial cleft cyst. A good understanding of the regional anatomy and embryology can lead to an early diagnosis and thereby effective management of FBCC.

  10. Spontaneous alteration from Rathke's cleft cyst to craniopharyngioma--possible involvement of transformation between these pathologies.

    PubMed

    Ogawa, Yoshikazu; Watanabe, Mika; Tominaga, Teiji

    2014-12-01

    Both Rathke's cleft cyst and craniopharyngioma are considered to arise from the remnants of Rathke's diverticulum despite the quite different histological characteristics. These two lesions may consist of a disease spectrum extending from Rathke's cleft cyst to craniopharyngioma. However, in spite of increasing evidence of these intermediate histologies, very few cases of the actual transformation from Rathke's cleft cyst to craniopharyngioma have been reported in the same patient. A 47-year-old man suffered from recurrent visual dysfunction. Aspiration and partial cystectomy was performed to a suprasellar massive cystic lesion. The histological diagnosis was Rathke's cleft cyst with a small component of squamous metaplasia. Seven months later, the cyst was re-expanded. The cyst wall was irregularly thickened. Re-operation was performed, and the thickened anterior wall was widely removed. Postoperative histological examination showed multiplication of stratified squamous epithelia forming a papillary arrangement. Ki-67 staining showed positive cells randomly distributed not only in the basal layer but also in various epithelial layers, with a labeling index of more than 20 %. The histological diagnosis was squamous papillary type of craniopharyngioma with high potential of proliferation. Subsequent immunohistochemical examinations showed positive reaction to cytokeratin 8 only in the initial epithelium and negative in the latter epithelium. The present case was thought as an actual evidence of the proposed link between Rathke's cleft cyst and craniopharyngioma. Cytokeratin 8 could be the important examination to differentiate Rathke's cleft cyst from craniopharyngioma.

  11. Electromyographic analysis of superior orbicularis oris muscle function in children surgically treated for unilateral complete cleft lip and palate.

    PubMed

    Szyszka-Sommerfeld, Liliana; Woźniak, Krzysztof; Matthews-Brzozowska, Teresa; Kawala, Beata; Mikulewicz, Marcin

    2017-09-01

    The aim of this study was to assess the electrical activity of the superior orbicularis oris muscle in children surgically treated for unilateral complete cleft lip and palate (UCCLP). The sample comprised 45 patients 6.38-12.68 years of age with UCCLP and 40 subjects 6.61-11.71 years of age with no clefts. Electromyographical (EMG) recordings were taken with a DAB-Bluetooth Instrument (Zebris Medical GmbH, Germany) in the rest position and during saliva swallowing, lip protrusion and reciprocal compression of the lips, as well as while producing the phonemes /p/, /b/, and /m/ combined with the vowel /a/. The electrical activity of the upper lip during saliva swallowing and lip compression was significantly greater in the cleft group. Similar resting level activity was observed in both groups. During the production of the /p/, /b/, and /m/ phonemes combined with the vowel /a/ the results showed no significant differences in the EMG activity between children with UCCLP and noncleft subjects. Patients with UCCLP have abnormal upper lip function characterized by increased activity of the superior orbicularis oris muscle during saliva swallowing and lip compression, and this may affect facial morphology. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  12. [Facial dog bite injuries in children: retrospective study of 77 cases].

    PubMed

    Hersant, B; Cassier, S; Constantinescu, G; Gavelle, P; Vazquez, M-P; Picard, A; Kadlub, N

    2012-06-01

    The face is the area most vulnerable for dog bites in children. Surgical management is an emergency to prevent infection, functional and aesthetic outcomes. The aim of this study was to define a new gravity scale, and to determine a prevention policy. In our maxillofacial and plastic surgery department, we conducted a retrospective study from 2002 to 2010, including 77 children under 16 years old, victims of facial dog bite. We analyzed epidemiological, clinical data, surgical outcomes. The mean age was 5.36 years. Dogs were principally represented by class I and II dogs; 27,7% of them had ever bitten before. In almost all the cases, the dogs belong to the family or closers. Twenty-one percent of children belong to an unfavourable social environment; 71.43% of dog bites interested the central area of the face. The bites were deep in 77% of cases with amputation or extensive loss of substance in 31% of cases. The healing time was 10.54 months. Nearly a third of patients required several surgeries; 41.56% of patients had aesthetic and functional sequelae; 35.1% of children had psychological problems afterward. Facial children dog bites require a multidisciplinary approach, and a long-term follow-up. We propose a new classification of dog bite severity, more appropriate to the face. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  13. Facial nerve paralysis in children

    PubMed Central

    Ciorba, Andrea; Corazzi, Virginia; Conz, Veronica; Bianchini, Chiara; Aimoni, Claudia

    2015-01-01

    Facial nerve palsy is a condition with several implications, particularly when occurring in childhood. It represents a serious clinical problem as it causes significant concerns in doctors because of its etiology, its treatment options and its outcome, as well as in little patients and their parents, because of functional and aesthetic outcomes. There are several described causes of facial nerve paralysis in children, as it can be congenital (due to delivery traumas and genetic or malformative diseases) or acquired (due to infective, inflammatory, neoplastic, traumatic or iatrogenic causes). Nonetheless, in approximately 40%-75% of the cases, the cause of unilateral facial paralysis still remains idiopathic. A careful diagnostic workout and differential diagnosis are particularly recommended in case of pediatric facial nerve palsy, in order to establish the most appropriate treatment, as the therapeutic approach differs in relation to the etiology. PMID:26677445

  14. Results of speech improvement following simultaneous push-back together with velopharyngeal flap surgery in cleft palate patients.

    PubMed

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

    2014-07-01

    Velopharyngeal insufficiency (VPI) can be caused by a variety of disorders. The most common cause of VPI is the association with cleft palate. The aim of this study was to evaluate the effectiveness of different surgical techniques for cleft palate patients with VPI: (1) velopharyngoplasty with an inferiorly based posterior pharyngeal flap (VPP posterior, Schönborn-Rosenthal), and (2) combination of VPP posterior and push-back operation (Dorrance). 41 subjects (26 females, 15 males) with VPI were analysed. Hypernasality was judged subjectively and nasalance data were assessed objectively using the NasalView system preoperative and 6 months postoperative. Subjective analysis showed improved speech results regarding hypernasality for all OP-techniques with good results for VPP posterior and VPP posterior combined with push-back with success rates of 94.4% and 87.7%, respectively. Objective analysis showed a statistically significant reduction of nasalance for both VPP posterior and VPP posterior combined with push-back (p < 0.01). However, there were no statistically significant differences concerning measured nasalance values postoperatively between the VPP posterior and VPP posterior combined with push-back. Based on our findings, both VPP posterior and VPP posterior combined with push-back showed good results in correction of hypernasality in cleft patients with velopharyngeal insufficiency. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  15. Facial Nerve Paralysis due to Chronic Otitis Media: Prognosis in Restoration of Facial Function after Surgical Intervention

    PubMed Central

    Kim, Jin; Jung, Gu-Hyun; Park, See-Young

    2012-01-01

    Purpose Facial paralysis is an uncommon but significant complication of chronic otitis media (COM). Surgical eradication of the disease is the most viable way to overcome facial paralysis therefrom. In an effort to guide treatment of this rare complication, we analyzed the prognosis of facial function after surgical treatment. Materials and Methods A total of 3435 patients with COM, who underwent various otologic surgeries throughout a period of 20 years, were analyzed retrospectively. Forty six patients (1.33%) had facial nerve paralysis caused by COM. We analyzed prognostic factors including delay of surgery, the extent of disease, presence or absence of cholesteatoma and the type of surgery affecting surgical outcomes. Results Surgical intervention had a good effect on the restoration of facial function in cases of shorter duration of onset of facial paralysis to surgery and cases of sudden onset, without cholesteatoma. No previous ear surgery and healthy bony labyrinth indicated a good postoperative prognosis. Conclusion COM causing facial paralysis is most frequently due to cholesteatoma and the presence of cholesteatoma decreased the effectiveness of surgical treatment and indicated a poor prognosis after surgery. In our experience, early surgical intervention can be crucial to recovery of facial function. To prevent recurrent cholesteatoma, which leads to local destruction of the facial nerve, complete eradication of the disease in one procedure cannot be overemphasized for the treatment of patients with COM. PMID:22477011

  16. Bone Grafting the Cleft Maxilla

    MedlinePlus

    ... of Publications Last Updated: Oct 25, 2007 American Cleft Palate-Craniofacial Association 1504 East Franklin Street, Suite 102 ... order bottles Order ACPA publications © Copyright 2017 American Cleft Palate-Craniofacial Association. Website by Mixer Creative Follow us ...

  17. 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.

  18. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies - USP (HRAC-USP) - Part 2: Pediatric Dentistry and Orthodontics

    PubMed Central

    FREITAS, José Alberto de Souza; GARIB, Daniela Gamba; OLIVEIRA, Thais Marchini; LAURIS, Rita de Cássia Moura Carvalho; de ALMEIDA, Ana Lúcia Pompéia Fraga; NEVES, Lucimara Teixeira; TRINDADE-SUEDAM, Ivy Kiemle; YAEDÚ, Renato Yassutaka Faria; SOARES, Simone; PINTO, João Henrique Nogueira

    2012-01-01

    The aim of this article is to present the pediatric dentistry and orthodontic treatment protocol of rehabilitation of cleft lip and palate patients performed at the Hospital for Rehabilitation of Craniofacial Anomalies - University of São Paulo (HRAC-USP). Pediatric dentistry provides oral health information and should be able to follow the child with cleft lip and palate since the first months of life until establishment of the mixed dentition, craniofacial growth and dentition development. Orthodontic intervention starts in the mixed dentition, at 8-9 years of age, for preparing the maxillary arch for secondary bone graft procedure (SBGP). At this stage, rapid maxillary expansion is performed and a fixed palatal retainer is delivered before SBGP. When the permanent dentition is completed, comprehensive orthodontic treatment is initiated aiming tooth alignment and space closure. Maxillary permanent canines are commonly moved mesially in order to substitute absent maxillary lateral incisors. Patients with complete cleft lip and palate and poor midface growth will require orthognatic surgery for reaching adequate anteroposterior interarch relationship and good facial esthetics. PMID:22666849

  19. Association Between Genes Involved in Craniofacial Development and Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population.

    PubMed

    Machado, Renato Assis; Messetti, Ana Camila; de Aquino, Sibele Nascimento; Martelli-Júnior, Hercílio; Swerts, Mário Sérgio Oliveira; de Almeida Reis, Silvia Regina; Moreira, Helenara Salvati Bertolossi; Persuhn, Darlene Camati; Coletta, Ricardo D

    2016-09-01

    To determine the association of single-nucleotide polymorphisms (SNPs) in genes related to craniofacial development, which were previously identified as susceptibility signals for nonsyndromic oral clefts, in Brazilians with nonsyndromic cleft lip and/or palate (NSCL/P). The SNPs rs748044 (TNP1), rs1106514 (MSX1), rs28372960, rs15251 and rs2569062 (TCOF1), rs7829058 (FGFR1), rs1793949 (COL2A1), rs11653738 (WNT3), and rs242082 (TIMP3) were assessed in a family-based transmission disequilibrium test (TDT) and a structured case-control analysis based on the individual ancestry proportions. The SNPs were initially analyzed by TDT, and polymorphisms showing a trend toward excess transmission were subsequently studied in an independent case-control sample. The study sample consisted of 189 case-parent trios of nonsyndromic cleft lip with or without cleft palate (NSCL±P), 107 case-parent trios of nonsyndromic cleft palate (NSCP), 318 isolated samples of NSCL±P, 189 isolated samples of NSCP, and 599 healthy controls. Association of alleles with NSCL/P pathogenesis. Preferential transmission of SNPs rs28372960 and rs7829058 in NSCL±P trios and rs11653738 in NSCP trios (P = .04) were observed, although the structured case-control analysis did not confirm these associations. The haplotype T-C-C formed by TCOF1 SNPs rs28372960, rs15251, and rs2569062 was more frequently transmitted from healthy parents to NSCL±P offspring, but the P value (P = .01) did not withstand Bonferroni correction for multiple tests. With the modest associations, our results do not support the hypothesis that TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3, and TIMP3 variants are risk factors for nonsyndromic oral clefts in the Brazilian population.

  20. Diprosopia revisited in light of the recognized role of neural crest cells in facial development.

    PubMed

    Carles, D; Weichhold, W; Alberti, E M; Léger, F; Pigeau, F; Horovitz, J

    1995-01-01

    The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia. This peculiar form of conjoined twinning is of great interest because 1) only the facial structures are duplicated and 2) almost all cases have a rather monomorphic pattern. The hypothesis is that an initial duplication of the notochord leads to two neural plates and subsequently duplicated neural crests. In those conditions, derivatives of the neural crests will be partially or totally duplicated; therefore, in diprosopia, the duplicated facial structures would be considered to be neural crest derivatives. If these structures are identical to those that are experimentally demonstrated to be neural crest derivatives in animals, these findings are an argument to apply this theory of facial embryogenesis in man. Serial horizontal sections of the face of two diprosopic fetuses (11 and 21 weeks gestation) were studied macro- and microscopically to determine the external and internal structures that are duplicated. Complete postmortem examination was performed in search for additional malformations. The face of both fetuses showed a very similar morphologic pattern with duplication of ocular, nasal, and buccal structures. The nasal fossae and the anterior part of the tongue were also duplicated, albeit the posterior part and the pharyngolaryngeal structures were unique. Additional facial clefts were present in both fetuses. Extrafacial anomalies were represented by a craniorachischisis, two fused vertebral columns and, in the older fetus, by a complex cardiac malformation morphologically identical to malformations induced by removal or grafting of additional cardiac neural crest cells in animals. These pathological findings could identify the facial structures that are neural crest derivatives in man. They are similar to those experimentally demonstrated to be neural crest derivatives in animals. In this respect, diprosopia could be considered as the end of a spectrum

  1. 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 ...

  2. Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

    PubMed

    Urban, M; Opitz, C; Bommer, C; Enders, H; Tinschert, S; Witkowski, R

    1998-09-23

    We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.

  3. Assessing Technical Performance and Determining the Learning Curve in Cleft Palate Surgery Using a High-Fidelity Cleft Palate Simulator.

    PubMed

    Podolsky, Dale J; Fisher, David M; Wong Riff, Karen W; Szasz, Peter; Looi, Thomas; Drake, James M; Forrest, Christopher R

    2018-06-01

    This study assessed technical performance in cleft palate repair using a newly developed assessment tool and high-fidelity cleft palate simulator through a longitudinal simulation training exercise. Three residents performed five and one resident performed nine consecutive endoscopically recorded cleft palate repairs using a cleft palate simulator. Two fellows in pediatric plastic surgery and two expert cleft surgeons also performed recorded simulated repairs. The Cleft Palate Objective Structured Assessment of Technical Skill (CLOSATS) and end-product scales were developed to assess performance. Two blinded cleft surgeons assessed the recordings and the final repairs using the CLOSATS, end-product scale, and a previously developed global rating scale. The average procedure-specific (CLOSATS), global rating, and end-product scores increased logarithmically after each successive simulation session for the residents. Reliability of the CLOSATS (average item intraclass correlation coefficient (ICC), 0.85 ± 0.093) and global ratings (average item ICC, 0.91 ± 0.02) among the raters was high. Reliability of the end-product assessments was lower (average item ICC, 0.66 ± 0.15). Standard setting linear regression using an overall cutoff score of 7 of 10 corresponded to a pass score for the CLOSATS and the global score of 44 (maximum, 60) and 23 (maximum, 30), respectively. Using logarithmic best-fit curves, 6.3 simulation sessions are required to reach the minimum standard. A high-fidelity cleft palate simulator has been developed that improves technical performance in cleft palate repair. The simulator and technical assessment scores can be used to determine performance before operating on patients.

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

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

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

    1991-07-02

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

  5. Patterns of Orofacial Clefting in New York City From 1983 to 2010: Trends by Racial Background, Birthplace, and Public Health Strategies.

    PubMed

    Butts, Sydney C; Reynolds, Simone; Gitman, Lyuba; Patel, Prayag; Joseph, Michael

    2018-01-01

    To determine the role of racial background, public health initiatives, and residence on the prevalence of orofacial clefts (OFCs) in New York City (NYC). Retrospective review of OFC cases from the New York State Congenital Malformations Registry. Patients born with an OFC and all live births to mothers residing in NYC between 1983 and 2010. Orofacial cleft birth prevalence by cleft type, race, and borough of maternal residence for each year and by time period around the implementation of public health interventions including folate supplementation. A total of 3557 cases were reviewed. The prevalence remained stable for cleft palate and cleft lip with or without cleft palate (CL ± P) in sequential time periods of the study. Among CL ± P cases, cleft lip prevalence decreased early in the study compared to increases in cleft lip and palate prevalence. For most years, the prevalence of OFCs was lower among African Americans than whites. A total of 12% to 26% of mothers in 4 of the NYC boroughs deliver outside of their borough of residence, choosing to give birth in Manhattan most often. No difference in OFC prevalence was shown in any of the 5 NYC boroughs. The period prevalence remained relatively stable during the time periods before and after the implementation of folate supplementation for OFCs in NYC. Prevalence of OFC subtypes was lower for most time periods during this study among African Americans compared to whites. Several factors may explain the choice of birthplace outside of the mother's borough of residence.

  6. Use of cartilage grafts for closure of cleft palate fistulae.

    PubMed

    Jeffery, S L; Boorman, J G; Dive, D C

    2000-10-01

    We describe the results of using a free cartilage graft in the closure of cleft palate fistulae in 14 patients with a mean follow-up of 8.6 months. Complete closure of the fistula was achieved in 11 patients (79%), with partial closure in the remaining three patients. This technique is simple, causes relatively little discomfort, involves little tissue dissection and can be performed as a day-case procedure. The success rate is comparable with or better than other methods, and we consider it the treatment of choice for small cleft palate fistulae. Copyright 2000 The British Association of Plastic Surgeons.

  7. First Branchial Cleft Malformation with Duplication of External Auditory Canal

    PubMed Central

    Parida, Pradipta Kumar; Raja, Kalairasi; Surianarayanan, Gopalakrishnan; Ganeshan, Sivaraman

    2013-01-01

    First branchial cleft anomalies are uncommon, accounting for less than 10% of all branchial abnormalities. Their rare occurrence and varied presentation have frequently led to misdiagnosis and inadequate and inappropriate treatment of these conditions leading to repeated recurrences and secondary infection. In this paper, a case of 11-year girl with type 2 first branchial cleft defect is described. She first presented with a nonhealing ulcer of upper neck from childhood. Diagnosis had previously been missed and treated as tubercular ulcer. We confirmed the correct diagnosis by history and computerized tomography fistulogram. The lesion was completely excised with no further recurrence. PMID:24312740

  8. Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly.

    PubMed

    Thottam, Prasad John; Bathula, Samba S; Poulik, Janet M; Madgy, David N

    2014-01-01

    Branchial cleft anomalies make up 30% of all pediatric neck masses, but complete second branchial cleft anomalies are extremely rare. We report an unusual case of a complete second branchial cleft anomaly that presented as a draining neck fistula and a tonsillar cyst in an otherwise healthy 3-month-old girl. At the age of 7 months, the patient had been experiencing feeding difficulties, and there was increasing concern about the risk of persistent infections. At that point, the anomaly was excised in its entirety. Our suspicion that the patient had a complete second branchial cleft anomaly was confirmed by imaging, surgical excision, and histopathologic analysis.

  9. 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

  10. SATB2-associated syndrome presenting with Rett-like phenotypes.

    PubMed

    Lee, J S; Yoo, Y; Lim, B C; Kim, K J; Choi, M; Chae, J-H

    2016-06-01

    The SATB2-associated syndrome (SAS) was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole-exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p.Glu396Gln). Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in SATB2 was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of SAS. SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing.

    PubMed

    Maximino, Luciana Paula; Zambonato, Ticiana Cristina de Freitas; Picolini-Pereira, Mirela Machado; Castro Corrêa, Camila de; Feniman, Mariza Ribeiro; Blasca, Wanderléia Quinhoneiro

    2018-01-01

    Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled "Fissure and Hearing", was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing.

  12. Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing

    PubMed Central

    Maximino, Luciana Paula; Zambonato, Ticiana Cristina de Freitas; Picolini-Pereira, Mirela Machado; Castro Corrêa, Camila de; Feniman, Mariza Ribeiro; Blasca, Wanderléia Quinhoneiro

    2018-01-01

    Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled “Fissure and Hearing”, was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing. PMID:29371900

  13. Stab injury to the preauricular region with laceration of the external carotid artery without involvement of the facial nerve: a case report.

    PubMed

    Casal, Diogo; Pelliccia, Giovanni; Pais, Diogo; Carrola-Gomes, Diogo; Angélica-Almeida, Maria; Videira-Castro, José; Goyri-O'Neill, João

    2017-07-29

    Open injuries to the face involving the external carotid artery are uncommon. These injuries are normally associated with laceration of the facial nerve because this nerve is more superficial than the external carotid artery. Hence, external carotid artery lesions are usually associated with facial nerve dysfunction. We present an unusual case report in which the patient had an injury to this artery with no facial nerve compromise. A 25-year-old Portuguese man sustained a stab wound injury to his right preauricular region with a broken glass. Immediate profuse bleeding ensued. Provisory tamponade of the wound was achieved at the place of aggression by two off-duty doctors. He was initially transferred to a district hospital, where a large arterial bleeding was observed and a temporary compressive dressing was applied. Subsequently, the patient was transferred to a tertiary hospital. At admission in the emergency room, he presented a pulsating lesion in the right preauricular region and slight weakness in the territory of the inferior buccal branch of the facial nerve. The physical examination suggested an arterial lesion superficial to the facial nerve. However, in the operating theater, a section of the posterior and lateral flanks of the external carotid artery inside the parotid gland was identified. No lesion of the facial nerve was observed, and the external carotid artery was repaired. To better understand the anatomical rationale of this uncommon clinical case, we dissected the preauricular region of six cadavers previously injected with colored latex solutions in the vascular system. A small triangular space between the two main branches of division of the facial nerve in which the external carotid artery was not covered by the facial nerve was observed bilaterally in all cases. This clinical case illustrates that, in a preauricular wound, the external carotid artery can be injured without facial nerve damage. However, no similar description was found in

  14. 19q13.32 microdeletion syndrome: three new cases.

    PubMed

    Castillo, Angela; Kramer, Nancy; Schwartz, Charles E; Miles, Judith H; DuPont, Barbara R; Rosenfeld, Jill A; Graham, John M

    2014-01-01

    A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1.3-Mb deletion have distinctive dysmorphic features and medical problems, allowing us to define a recognizable 19q13.32 microdeletion syndrome. Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2-3 toe syndactyly, kyphoscoliosis and colonic atony. Therefore, the common features of the 19q13.32 microdeletion syndrome include facial asymmetry, ptosis, oculomotor paralysis, orofacial clefting, micrognathia, kyphoscoliosis, aortic defects and colonic atony. These findings are probably related to a deletion of some combination of the 20-23 genes in common between these two patients, especially NPAS1, NAPA, ARHGAP35, SLC8A2, DHX34, MEIS3, and ZNF541. These candidate genes are expressed in the brain parenchyma, glia, heart, gastrointestinal tract and musculoskeletal system and likely play a fundamental role in the expression of this phenotype. This report delineates the phenotypic spectrum associated with the haploinsufficiency of genes found in 19q13.32. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  15. Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2.

    PubMed

    Skare, Øivind; Lie, Rolv T; Haaland, Øystein A; Gjerdevik, Miriam; Romanowska, Julia; Gjessing, Håkon K; Jugessur, Astanand

    2018-01-01

    Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models. 14,486 X-chromosome SNPs in 1,291 Asian and 1,118 European case-parent triads of isolated OFCs were available from a previous GWAS. For each ethnicity, cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) were analyzed separately using two X-inactivation models and a sliding-window approach to haplotype analysis. In addition, we performed analyses restricted to female offspring. Results: Associations were identified in "Dystrophin" ( DMD , Xp21.2-p21.1), "Fibroblast growth factor 13" ( FGF13 , Xq26.3-q27.1) and "EGF-like domain multiple 6" ( EGFL6 , Xp22.2), with biologically plausible links to OFCs. Unlike EGFL6 , the other associations on chromosomal region Xp22.2 had no apparent connections to OFCs. However, the Xp22.2 region itself is of potential interest because it contains genes for clefting syndromes [for example, "Oral-facial-digital syndrome 1" ( OFD1 ) and "Midline 1" ( MID1 )]. Overall, the identified associations were highly specific for ethnicity, cleft subtype and X-inactivation model, except for DMD in which associations were identified in both CPO and CL/P, in the model with X-inactivation and in Europeans only. Discussion/Conclusion: The specificity of the associations for ethnicity, cleft subtype and X-inactivation model underscores the utility of conducting subanalyses, despite the ensuing need to adjust

  16. Treatment of maxillary cleft palate: Distraction osteogenesis vs. orthognathic surgery

    PubMed Central

    Rachmiel, Adi; Even-Almos, Michal; Aizenbud, Dror

    2012-01-01

    Purpose: The purpose of this paper is to compare the treatment of hypoplastic, retruded maxillary cleft palate using distraction osteogenesis vs. orthognathic surgery in terms of stability and relapse, growth after distraction and soft tissue profile changes. Materials and Methods: The cleft patients showed anteroposterior maxillary hypoplasia with class III malocclusion and negative overjet resulting in a concave profile according to preoperative cephalometric measurements, dental relationship, and soft tissue analysis. The patients were divided in two groups of treatment : S0 eventeen were treated by orthognathic Le Fort I osteotomy fixed with four mini plates and 2 mm screws, and 19 were treated by maxillary distraction osteogenesis with rigid extraoral devices (RED) connected after a Le Fort I osteotomy. The rate of distraction was 1 mm per day to achieve Class I occlusion with slight overcorrection and to create facial profile convexity. Following a 10 week latency period the distraction devices were removed. Results: In the RED group the maxilla was advanced an average of 15.80 mm. The occlusion changed from class III to class I. The profile of the face changed from concave to convex. At a 1-year follow up the results were stable. The mean orthognathic movement was 8.4 mm. Conclusion: In mild maxillary deficiency a one stage orthognathic surgery is preferable. However, in patients requiring moderate to large advancements with significant structural deficiencies of the maxilla or in growing patients the distraction technique is preferred. PMID:23483803

  17. A case of labio-facial necrotizing fasciitis complicating acne.

    PubMed

    Eltayeb, Amel Salah; Ahmad, Abdelnasir Gafar; Elbeshir, Elnour Ibrahim

    2016-04-23

    Facial necrotizing fasciitis is extremely rare. Most of the cases reported in literature are related to dental, sinus, tonsillar and salivary glands causes, but rarely as consequence of skin infection. We report a unique case of lower lip cellulitis, which was initially misdiagnosed as angioedema and subsequently progressed into lower lip necrotizing fasciitis. This is a case report of necrotizing fasciitis involving the lower lip as a consequence of infected skin acne in a 19 year old black female. The patient had been diagnosed earlier as a case of angioedema by a physician and treated accordingly. She was mildly anemic, hyponatremic and hypokalemic. Treatment was started immediately by incision, drainage and full debridement of the whole necrotic tissue. Triple antibiotic therapy was administered and daily irrigation and dressing were performed until full recovery. Complete healing occurred within a month by secondary intention. This case demonstrates the misdiagnosis of a lip swelling leading to the development of labiofacial necrotizing fasciitis, a serious and life threatening condition. Lip angioedema is a common condition; however, lip fasciitis is rare. A broad differential diagnosis in case of lower lip swelling is essential to avoid inappropriate treatment delay.

  18. Delayed detection of cleft palate: an audit of newborn examination.

    PubMed

    Habel, A; Elhadi, N; Sommerlad, B; Powell, J

    2006-03-01

    To identify prevalence of delayed detection of cleft palate, and associated factors that could lead to improved identification at neonatal clinical examination. Audit of hospital notes, parental questionnaire incorporating open ended questions, and telephone questionnaire of junior doctors in the referring hospitals incorporating fixed choice questions. Of 344 cleft palate patients without cleft lip or submucous cleft palate, the day the cleft was detected was recorded in 92%. Delayed detection, after the first day, was 28% overall, distributed as 37% with isolated cleft palate and 23% with syndromic cleft palate. Narrow V shaped clefts were more likely to be delayed in detection compared with broad U shaped clefts, as were soft palate clefts compared with hard palate clefts. Five with isolated cleft palates were not detected until after the first year. Babies born at home were unlikely to be detected on day 1. Symptoms were significantly increased in the delayed detection group for feeding problems and nasal regurgitation. A telephone questionnaire of trainee paediatricians in referring units revealed that digital examination was more commonly practised than visual inspection, and few recalled receiving specific instruction on examination of the palate. Delayed detection of cleft palate was not uncommon, and the features of those more likely to be missed suggested digital examination was related. Trainee doctors and midwives should be instructed to inspect visually using a light and tongue depressor, then digitally if submucous cleft palate is suspected.

  19. Ambulatory cleft lip surgery: A value analysis.

    PubMed

    Arneja, Jugpal S; Mitton, Craig

    2013-01-01

    Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory cleft surgery enhances overall health care value.

  20. Craniopharyngioma arising in a Rathke's cleft cyst: case report.

    PubMed

    Alomari, Ahmed K; Kelley, Brian J; Damisah, Eyiyemisi; Marks, Asher; Hui, Pei; DiLuna, Michael; Vortmeyer, Alexander

    2015-03-01

    Craniopharyngioma is one of the most common non-glial intracranial tumors of childhood. Its relation to Rathke's cleft cyst (RCC) is controversial, and both lesions have been hypothesized to lie on a continuum of cystic ectodermal lesions of the sellar region. The authors report on a 7-year-old boy who presented with decreased visual acuity, presumably of at least 2 years' duration, and was found to have a 5.2-cm sellar lesion with rim enhancement. Histological examination of the resected lesion showed a mixture of areas with simple RCC morphology with focal squamous metaplasia and areas with typical craniopharyngioma morphology. Immunohistochemical staining with CK20 and Ki 67 differentially highlighted the 2 morphological components. Testing for beta-catenin and BRAF mutations was negative in the craniopharyngioma component, precluding definitive molecular classification. Follow-up imaging showed minimal residual enhancement and the patient will be closely followed up with serial MRI. Given the clinical and histological findings in the case, a progressive transformation of the RCC to craniopharyngioma seems to be the most plausible explanation for the co-occurrence of the 2 lesion types in this patient. An extensive review of previously proposed theories of the relationship between craniopharyngioma and RCC is also presented.

  1. [Anatomicopathological relation between facial nerve and large vestibular Schwannoma].

    PubMed

    Jiang, T; Yu, C; Guo, E; Guan, S; Yan, C

    2001-05-10

    To study the anatomicopathological relation between facial nerve and large vestibular schwannoma. Operation by suboccipital retrosigmoid sinus approach was performed on 40 cases with large vestibular schwannoma, During the operation, the anatomicopathological relation between the facial nerve and the vestibular schwannoma was observed directly. The facial nerve was found to be located ventrally (deep under the tumor), dorsally (over the tumor), at the upper pole of the tumor (near the tentorium cerebelli), at the lower pole of the tumor (near the rear group cranial nerves), or aberrant (unable to be identified because of infiltration of tumor). In 31 cases, mainly with parenchymatous tumor, the facial nerve was flat in shape. In 9 cases, mainly with cystic tumor, the facial nerve was bandlike. The facial nerve varies greatly in neuroanatomy among patients with large vestibular schwannoma. Strengthening of operative monitoring can increase the safety of operation.

  2. 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

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

    PubMed

    Navarro, Carlos E

    2015-06-01

    females (48.1%). The incidence of isolated lip clefts was 1546 patients (25.3%); of isolated palate clefts, 2223 patients (36.4%); and combined defects, 2339 patients (38.3%). Of the 5162 patients who returned for follow-up, 377 patients (7.3%) had complications. Lip wound dehiscence was present in 58 patients (15.4). Palate fistula formation in 33 patients (8.8%): 24 (6.4%) after primary palate closure, and 9 (2.4%) after previous fistula closure. Infection occurred in 37 cleft lip patients (9.8%). Hypertrophic lip scars were seen in 56 patients (14.9%). Bleeding occurred in the recovery room after palatoplasty in 48 patients (12.7%), and in most cases, it was contained by applying pressure. No blood transfusions were used. Residual deformities of varying degree of the nose and/or lip occurred in 145 patients (38.5%). All required reoperation for correction. There were no intraoperative deaths in this series. During the past 20 years, the CIRPLAST team has offered free surgery with good outcomes and few complications, to more than 6000 cleft lip and/or palate patients in remote areas of Peru.

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

    PubMed

    Poenaru, Dan; Lin, Dan; Corlew, Scott

    2016-05-01

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

  5. [Neonatal facial palsy: identification of herpes simplex virus 1 in cerebrospinal fluid. Case report].

    PubMed

    Lubián López, Simón; Pérez Guerrero, Juan J; Salazar Oliva, Patricia; Benavente Fernández, Isabel

    2018-06-01

    Neonatal facial palsy is very uncommon and is generally diagnosed at birth. We present the first published case of neonatal facial palsy with identification of herpes simplex virus 1 in cerebrospinal fluid. A 35-day-old male was presented at the Emergency Department with mouth deviation to the left and impossibility of full closure of the right eye. There were no symptoms of infection or relevant medical history. Physical examination was compatible with peripheral facial palsy. Studies performed at admission were normal (blood count, biochemical analysis and coagulation blood tests and cerebrospinal fluid analysis). The patient was admitted on oral prednisolone and intravenous aciclovir. Cranial magnetic resonance was normal. Polymerase chain reaction test for herpes simplex virus 1 in cerebrospinal fluid was reported positive after 48 hours of admission. Patient followed good evolution and received prednisolone for 7 days and acyclovir for 21 days. At discharge, neurological examination was normal. Sociedad Argentina de Pediatría.

  6. Paternal Risk Factors for Oral Clefts in Northern Africans, Southeast Asians, and Central Americans

    PubMed Central

    Ly, Stephanie; Burg, Madeleine L.; Ihenacho, Ugonna; Brindopke, Frederick; Auslander, Allyn; Magee, Kathleen S.; Sanchez-Lara, Pedro A.; Nguyen, Thi-Hai-Duc; Nguyen, Viet; Tangco, Maria Irene; Hernandez, Angela Rose; Giron, Melissa; Mahmoudi, Fouzia J.; DeClerck, Yves A.; Magee, William P.; Figueiredo, Jane C.

    2017-01-01

    While several studies have investigated maternal exposures as risk factors for oral clefts, few have examined paternal factors. We conducted an international multi-centered case–control study to better understand paternal risk exposures for oral clefts (cases = 392 and controls = 234). Participants were recruited from local hospitals and oral cleft repair surgical missions in Vietnam, the Philippines, Honduras, and Morocco. Questionnaires were administered to fathers and mothers separately to elicit risk factor and family history data. Associations between paternal exposures and risk of clefts were assessed using logistic regression adjusting for potential confounders. A father’s personal/family history of clefts was associated with significantly increased risk (adjusted OR: 4.77; 95% CI: 2.41–9.45). No other significant associations were identified for other suspected risk factors, including education (none/primary school v. university adjusted OR: 1.29; 95% CI: 0.74–2.24), advanced paternal age (5-year adjusted OR: 0.98; 95% CI: 0.84–1.16), or pre-pregnancy tobacco use (adjusted OR: 0.96; 95% CI: 0.67–1.37). Although sample size was limited, significantly decreased risks were observed for fathers with selected occupations. Further research is needed to investigate paternal environmental exposures as cleft risk factors. PMID:28629204

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

    PubMed

    Antonarakis, Gregory S; Fisher, David M

    2015-07-01

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

  8. Facial paralysis caused by malignant skull base neoplasms.

    PubMed

    Marzo, Sam J; Leonetti, John P; Petruzzelli, Guy

    2002-12-01

    Bell palsy remains the most common cause of facial paralysis. Unfortunately, this term is often erroneously applied to all cases of facial paralysis. The authors performed a retrospective review of data obtained in 11 patients who were treated at a university-based referral practice between July 1988 and September 2001 and who presented with acute facial nerve paralysis mimicking Bell palsy. All patients were subsequently found to harbor an occult skull base neoplasm. A delay in diagnosis was demonstrated in all cases. Seven patients died of their disease, and four patients are currently free of disease. Although Bell palsy remains the most common cause of peripheral facial nerve paralysis, patients in whom neoplasms invade the facial nerve may present with acute paralysis mimicking Bell palsy that fails to resolve. Delays in diagnosis and treatment in such cases may result in increased rates of mortality and morbidity.

  9. Facial paralysis caused by malignant skull base neoplasms.

    PubMed

    Marzo, Sam J; Leonetti, John P; Petruzzelli, Guy

    2002-05-15

    Bell palsy remains the most common cause of facial paralysis. Unfortunately, this term is often erroneously applied to all cases of facial paralysis. The authors performed a retrospective review of data obtained in 11 patients who were treated at a university-based referral practice between July 1988 and September 2001 and who presented with acute facial nerve paralysis mimicking Bell palsy. All patients were subsequently found to harbor an occult skull base neoplasm. A delay in diagnosis was demonstrated in all cases. Seven patients died of their disease, and four patients are currently free of disease. Although Bell palsy remains the most common cause of peripheral facial nerve paralysis, patients in whom neoplasms invade of the facial nerve may present with acute paralysis mimicking Bell palsy that fails to resolve. Delays in diagnosis and treatment in such cases may result in increased rates of mortality and morbidity.

  10. Effects of Nasoalveolar Molding Therapy on Alveolar and Palatal Cleft Deformities in Unilateral and Bilateral Cleft Lip and Palate.

    PubMed

    Isik Aslan, Belma; Gülşen, Ayşe; Findikçioğlu, Kemal; Uzuner, Deniz; Üçüncü, Neslihan

    2018-03-01

    The purpose of this study was to evaluate and compare the efficacy of nasoalveolar molding (NAM) therapy in the improvement of alveolar and palatal cleft deformity on unilateral (UCLP) versus bilateral (BCLP) cleft lip and palate. A total of 19 UCLP (14 boys and 5 girls) and 8 BCLP (7 boys and 1 girl) infants completed NAM therapy were included in this study. Standardized parameters of cleft width of alveol and palate were measured on photocopies taken from the pre- and post-treatment plaster casts. To assess the intragroup differences, paired-samples test in UCLP and Wilcoxon test in BCLP groups were used. Mann-Whitney U test was used to evaluate the differences between the groups. Significant decreases in alveolar and palatal cleft gaps were achieved in an average period of 3.3 ± 1.9 and 3.7 ± 1.6 months in UCLP and BCLP patients, respectively. The alveolar cleft decreased 7.85 ± 4.59 mm in UCLP and 4.25 ± 3.13 and 3.81 ± 3.50 mm in right and left alveolar cleft sides in BCLP, respectively. The palatal clefts were decreased 4.63 ± 2.44 mm in medial and 3.72 ± 2.62 mm in posterior parts in UCLP. The decrements in BCLP were 3.00 ± 2.75 mm in medial and 2.88 ± 2.75 mm in posterior palatal cleft distances. No significant differences were determined in the amount of alveolar or palatal cleft closure between UCLP and BCLP groups. The only decrease in arch width was 1.39 mm in medial part of palate in UCLP. The NAM device provides significant decreases in both alveolar and palatal cleft deformities in UCLP and BCLP infants, as compared with their birth status.

  11. Comparison between autogenous iliac bone and freeze-dried bone allograft for repair of alveolar clefts in the presence of plasma rich in growth factors: A randomized clinical trial.

    PubMed

    Shirani, Gholamreza; Abbasi, Amir J; Mohebbi, Simin Z; Moharrami, Mohammad

    2017-10-01

    This study aimed to compare the effectiveness of alveolar cleft repair using iliac bone and freeze-dried bone allograft (FDBA) in the presence of plasma rich in growth factors (PRGF). Patients with unilateral alveolar cleft (n = 32) were randomly allocated to either the iliac plus PRGF group or the FDBA plus PRGF group. CBCT images were obtained before and 6 months after the surgery to assess the regenerated bone volume. Paired t-tests and two-way analysis of variance (ANOVA) were applied to analyze the data using SPSS 16.0 software. The patients' mean age was 15 ± 5.7 years (range = 8-27). In the iliac plus PRGF group, the mean volume of cleft before the surgery and the mean regenerated bone volume 6 months after were 1.67 ± 0.66 and 1.14 ± 0.47 cm 3 , respectively. The corresponding values were 1.5 ± 0.54 and 0.72 ± 0.23 cm 3 in the FDBA plus PRGF group. The remaining bone to cleft volume ratio was not associated with grafting time (secondary or tertiary) and the original cleft volume. Iliac bone reinforced with PRGF was more successful than FDBA plus PRGF in repairing alveolar cleft (p = 0.007). Due to the poor performance of the allograft, autografts should still be preferred in spite of possible donor site morbidity. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  12. Evidence-based medicine: cleft palate.

    PubMed

    Chepla, Kyle J; Gosain, Arun K

    2013-12-01

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

  13. The effectiveness of tonsillectomy and partial adenoidectomy on obstructive sleep apnea in cleft palate patients.

    PubMed

    Abdel-Aziz, Mosaad

    2012-11-01

    The most common cause of pediatric obstructive sleep apnea (OSA) is adenotonsillar hypertrophy (ATH). In cleft palate patients, however, the obstructive effects of ATH are more severe due to narrow airways. The aim of this study was to assess the effectiveness of tonsillectomy and/or partial adenoidectomy on OSA in cleft palate patients. Case series. Tonsillectomy and/or partial adenoidectomy was performed in 17 repaired cleft palate patients with tonsillar and/or adenoid hypertrophy and OSA. Apnea/hypopnea (A/H) index and minimum O(2) saturation were measured before and after surgery. In addition, because these patients are vulnerable to speech impairment after pharyngeal surgery, auditory perceptual assessment (APA) and nasometric assessment of speech were performed. The mean preoperative A/H index was 17.6 ± 3.9, and the mean preoperative minimum O(2) saturation was 88.7 ± 1.5%. Both parameters improved postoperatively, to 1.9 ± 2.3 and 93.7 ± 1.5% respectively, and the changes were significant (P < 0.001). In 12 cases (70.6%), A/H indexes were normalized following surgery. Associated comorbidities such as retrognathia and narrow pharyngeal airways may underlie incomplete recovery in some cases. There were no significant postoperative changes in APA and nasalance scores. In most cases, tonsillectomy and/or partial adenoidectomy is an effective method for treatment of OSA in repaired cleft palate patients presenting with tonsillar and/or adenoid hypertrophy. However, some cases may need further procedures to relieve airway obstruction due to associated comorbidities. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

  14. Premaxillary characteristics in complete bilateral cleft lip and palate: A predictor for treatment outcome

    PubMed Central

    El-Kassaby, Marwa Abdelwahab; Abdelrahman, Noha Ibrahim; Abbass, Islam Tarek

    2013-01-01

    Objectives: The aim of the current study was to investigate how bilateral cleft lip and palate (BCLP) cases responded differently to presurgical orthopedics (PSO) and primary lip repair (LR) based on premaxillary characteristics. We suggest a clinically oriented descriptive classification for BCLP based on premaxillary characteristics. Design and Setting: A retrospective longitudinal comparative study where available records of all non-syndromic patients with complete BCLP attending the Cleft Clinic, affiliated to the Oral and Maxillofacial Surgery department, Ain-Shams University, Cairo, Egypt were assessed. Sample Population and Methodology: Twenty-two cases were collected over a 4-years period from 2008 to 2011 (15 boys and 7 girls). Model assessment was performed for serial models representing four stages of treatment; M1: Prior to start of PSO, M2: At the end of PSO, M3: One month after LR, M4: Three months after LR. The premaxillary and vomerine widths were measured on M1. Models (M1-M4) were assessed for changes in anteroposterior projection, anterior arch width, intercanine width and posterior arch width and results were statistically analyzed. Intra-and postoperative surgical findings during and after primary LR were recorded. The sample was divided into two groups based on the premaxillary size and characteristics; Group R: Rudimentary premaxilla and Group P: Prominent premaxilla. Results: There was a highly significant difference in premaxillary width between the two groups (P = 0.00), changes in anteroposterior projection of the premaxilla were significant one and three months after LR. Changes in maxillary anterior arch width, intercanine and posterior arch widths were non-significant between groups. Mean age difference between the two groups was only statistically significant at the stage of LR. Surgical differences were noted between the two groups. Postoperatively as compared to group R; group P showed more premaxillary bulge and show at rest, as

  15. Restoration of facial symmetry in a patient with bell palsy using a modified maxillary complete denture: a case report.

    PubMed

    Bagchi, Gautam; Nath, Dilip Kumar

    2012-01-01

    Permanent facial paralysis can be devastating for a patient. Modern society's emphasis on appearance and physical beauty contributes to this problem and often leads to isolation of patients embarrassed by their appearance. Lagophthalmos with ocular exposure, loss of oral competence with resultant drooling, alar collapse with nasal airway obstruction, and difficulties with mastication and speech production are all potential consequences of facial paralysis. Affected patients are confronted with both a cosmetic defect and the functional deficits associated with loss of facial nerve function. In this case history report, a modified maxillary complete denture permitted a patient with Bell palsy to carry on daily activities with minimal facial distortion, pain, speech difficulty, and associated emotional trauma.

  16. Thymic cyst: a fourth branchial cleft anomaly.

    PubMed

    Nayan, Smriti; MacLean, Jonathan; Sommer, Doron

    2010-01-01

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

  17. Humanitarian Cleft Lip/Palate Surgeries in Buddhist Thailand and Neighboring Countries.

    PubMed

    Uemura, Tetsuji; Preeyanont, Piyoros; Udnoon, Sopridee

    2015-06-01

    This study evaluates surgeries done on patients with cleft lip and/or palate in Thailand and its neighboring countries from 1988 to 2008. This 21-year-long volunteer surgical mission was sponsored by Duang-Kaew Foundation, a volunteer organization. Countries involved, besides Thailand, were Vietnam, Myanmar, Laos, Cambodia, China, Sri Lanka, Bhutan, and India. The same surgical method for primary and secondary repair of lip and/or palate was used throughout: Onizuka method by single surgeon, the second author mainly. We assessed, by way of the patients' medical records including their background, the results of surgeries. The healing rates and complication rates associated with patients for primary and secondary repair of lip and/or palate. The study consisted of a total of 6832 patients: 3120 with cleft lip (CL); 2190 with cleft palate (CP); and 1522 with cleft lip and palate (CLP). Their primary cases were 675 (CL), 799 (CP), and 301 (CLP). All CP operations were done under general anesthesia. Of the CL surgeries, 10% of adult cases were done under local anesthesia. Of all the patients, 78%, or 5329, had one surgery; and 22%, or 1503, had 2 or more surgeries. Good healing was seen in 73.3%, whereas wound infection was noted in 2.0% and healing by second intention was in 1.2% of all cases. It is important that the Onizuka method was the only method used in all the countries throughout the mission period. The method has an advantage over other methods in that its design is simple enough so that even a beginning plastic surgeon can easily master, and operative results are constantly good regardless of who did the operation. The Duang-Kaew Foundation's long-term surgical program helped reduce the number of untreated patients to manageable levels for local health care providers in Thailand and neighboring countries for as long as 21 years.

  18. 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)

  19. Department of Defense Report on Search for Human Radiation Experiment Records, 1944 - 1994, Volume 2

    DTIC Science & Technology

    1997-06-01

    1-66 Serial investigation of a variety of congenital deformities of the brain case and facial skeleton and the response to treatment ...subsequent treatment of cleft lip and palate defects. The original proposal called for 100 patients and a comparison group of 100 "normals." To date, no...brain case and facial skeleton and the response to treatment . Document Type: Protocol. Document Date: 12 January 1966 Authors: Guy C. Nicholson; Thomas

  20. Birth defects related to bendectin use in pregnancy. I. Oral clefts and cardiac defects.

    PubMed

    Mitchell, A A; Rosenberg, L; Shapiro, S; Slone, D

    1981-06-12

    The risk of birth defects previously associated with Bendectin use in early pregnancy were evaluated in a case-control study of malformed infants whose mothers were interviewed in three regional centers; 98 infants with isolated cleft palate (CP), 221 with cleft lip with or without cleft palate (CL +/- CP), and 122 with selected heart defects (HD) were compared with 970 other malformed infants who served as controls. Relative risk estimates (with their 95% confidence limits) for first-trimester exposure to Bendectin were as follows: CP, 0.9 (0.5 to 1.5); CL +/- CP, 0.6 (0.4 to 0.8); and HD, 1.0 (0.6 to 1.6). Allowance for a large number of potentially confounding factors did not materially influence the risk estimates. These findings suggest that early in utero exposure to Bendectin does not appreciably increase the risk of oral clefts or selected cardiac defects.