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Sample records for facial anomalies cleft

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

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

    2004-01-01

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

  2. Facial clefts and associated limb anomalies: description of three cases and a review of the literature.

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    Obdeijn, M C; Offringa, P J; Bos, R R M; Verhagen, A A E; Niessen, F B; Roche, N A

    2010-11-01

    Facial clefts are rare congenital malformations. In the literature these are sometimes reported in combination with limb malformations, especially ring constrictions. This article describes three children with facial clefts and limb ring constrictions with various expressions. The first case has a lateral cleft with associated limb malformations. This combination has, to our knowledge, not yet been reported. The literature about facial clefting and the amniotic band syndrome and the possible etiology of clefting and constrictions in these cases are discussed.

  3. Facial Clefts and Associated Limb Anomalies. Description of Three Cases and a Review of the Literature

    NARCIS (Netherlands)

    Obdeijn, M. C.; Offringa, P. J.; Bos, R. R. M.; Verhagen, A. A. E.; Niessen, F. B.; Roche, N. A.

    2010-01-01

    Facial clefts are rare congenital malformations In the literature these are sometimes reported in combination with limb malformations, especially ring constrictions This article describes three children with facial clefts and limb ring constrictions with various expressions The first case has a

  4. Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts

    NARCIS (Netherlands)

    Ensing, S.; Kleinrouweler, C. E.; Maas, S. M.; Bilardo, C. M.; Van der Horst, C. M. A. M.; Pajkrt, E.

    2014-01-01

    Objective To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL +/- P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diag

  5. Second type of first branchial cleft anomaly

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    Hitesh Verma

    2016-01-01

    Full Text Available First branchial cleft fistula is a rare congenital malformation of the head and neck with an incidence of <8% of all branchial cleft defects. The patient presenting with discharging sinus in the neck with discharging ear should be investigated for a possible branchial cleft anomaly. Rarity and diverse presentation often lead to misdiagnosis and inadequate treatment. Recurrent infection and scarring make intraoperative identification of facial nerve made very difficult. We report a case of a 5-year-old boy with a first branchial cleft fistula, in which discharge was observed through the fistulous opening on the right side of the face and along the ear canal.

  6. Rare craniofacial anomaly: Tessier no. 2 cleft.

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    Ozek, C; Gundogan, H; Bilkay, U; Cankayali, R; Guner, U; Gurler, T; Songur, E

    2001-07-01

    Four cases of facial cleft that fit the anatomic description of the rare Tessier no. 2 cleft, with two patients having the no. 12 cleft extending to the cranium as no. 2 clefts, are presented. In all patients, clinical expressions of the anomaly were different. Thus, diverse surgical procedures were used in all cases. These cases and review of the literature help to define the soft-tissue and bony course of these clefts, and also emphasize the role of three-dimensional computed tomography scan imaging to show the bony cleft route. The diagnosis and treatment plan of the no. 2 cleft as well as its cranial counterpart are discussed in this report.

  7. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  8. Tessier 30 facial cleft

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    Nirmal C Bhattacharyya

    2012-01-01

    Full Text Available A case of midline cleft of the lower lip with cleft of the mandible and complete duplication of the tongue is reported here. Median cleft of the lower lip, mandible and bifid tongue with ankyloglossia is reported in the literature, but complete duplication of the tongue as part of the Tessier 30 cleft is not yet reported.

  9. Tessier 30 facial cleft

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    Bhattacharyya, Nirmal C.; Kalita, Kabita; Gogoi, Manoj; Deuri, Pradip K.

    2012-01-01

    A case of midline cleft of the lower lip with cleft of the mandible and complete duplication of the tongue is reported here. Median cleft of the lower lip, mandible and bifid tongue with ankyloglossia is reported in the literature, but complete duplication of the tongue as part of the Tessier 30 cleft is not yet reported. PMID:22529554

  10. Transverse facial cleft: A series of 17 cases

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    L K Makhija

    2011-01-01

    Full Text Available Introduction: Transverse facial cleft (Tessier type 7 or congenital macrostomia is a rare congenital anomaly seldom occurring alone and is frequently associated with deformities of the structures developing from the first and second branchial arches. The reported incidence of No. 7 cleft varies from 1 in 60,000 to 1 in 300,000 live births. Material and Methods: Seventeen patients of transeverse facial cleft who presented to us in last 5 years were included in the study. Their history regarding familial and environmental predispositions was recorded. The cases were analysed on basis of sex, laterality, severity, associated anomalies and were graded according to severity. They were operated by z plasty technique and were followed up for 2 years to look for effectiveness of the technique and its complications. Result: Out of the seventeen patients of transverse cleft, none had familial predilection or any environmental etiology like antenatal radiological exposure or intake of drugs of teratogenic potential. Most of the patients (9/17 were associated with hemifacial microsomia and 1 patient was associated with Treacher Colin′s Syndrome. Out of the 6 cases of Grade I clefts, 4 were isolated transverse clefts and of the 10 patients of Grade II clefts, 7 were associated with hemifacial microsomia. We encountered only one case of Grade III Transverse Cleft which was not only associated with hemifacial microsomia but also had cardiac anomaly. Out of the17 cases, 15 were operated and in most of them the outcome was satisfactory.

  11. Preferential associations between oral clefts and other major congenital anomalies

    NARCIS (Netherlands)

    Rittler, Monica; Lopez-Camelo, Jorge S.; Castilla, Eduardo E.; Bermejo, Eva; Cocchi, Guido; Correa, Adolfo; Csaky-Szunyogh, Melinda; Danderfer, Ron; De Vigan, Catherine; De Walle, Hermien; da Graca Dutra, Maria; Hirahara, Fumiki; Luisa Martinez-Frias, Maria; Merlob, Paul; Mutchinick, Osvaldo; Ritvanen, Annukka; Robert-Gnansia, Elisabeth; Scarano, Gioacchino; Siffel, Csaba; Stoll, Claude; Mastroiacovo, Pierpaolo

    2008-01-01

    Objectives: To identify preferential associations between oral clefts (CL = cleft lip only, CLP = cleft lip with cleft palate, CP = cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are

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

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    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.

  13. Is an isolated cleft lip an isolated anomaly?

    NARCIS (Netherlands)

    Deelder, J. D.; Breugem, C. C.; de Vries, Iris; de Bruin, M.; van der Molen, A. B. Mink; van der Horst, C. M. A. M.

    Introduction: It is well known that patients with cleft lip/palate or cleft palate can have associated anomalies. However, there is a relative paucity of information about the possible anomalies associated with an isolated cleft lip. A recent study (Vallino et al., 2008) showed that children with

  14. Is an isolated cleft lip an isolated anomaly?

    NARCIS (Netherlands)

    Deelder, J. D.; Breugem, C. C.; de Vries, Iris; de Bruin, M.; van der Molen, A. B. Mink; van der Horst, C. M. A. M.

    2011-01-01

    Introduction: It is well known that patients with cleft lip/palate or cleft palate can have associated anomalies. However, there is a relative paucity of information about the possible anomalies associated with an isolated cleft lip. A recent study (Vallino et al., 2008) showed that children with cl

  15. Lateral facial cleft associated with accessory mandible having teeth, absent parotid gland and peripheral facial weakness.

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    Ozçelik, D; Toplu, G; Türkseven, A; Senses, D A; Yiğit, B

    2014-07-01

    Transverse facial cleft is a very rare malformation. The Tessier no. 7 cleft is a lateral facial cleft which emanates from oral cavity and extends towards the tragus, involving both soft tissue and skeletal components. Here, we present a case having transverse facial cleft, accessory mandible having teeth, absent parotid gland and ipsilateral peripheral facial nerve weakness. After surgical repair of the cleft in 2-month of age, improvement of the facial nerve function was detected in 3-year of age. Resection of the accessory mandible was planned in 5-6 years of age.

  16. First branchial cleft anomalies: presentation, variability and safe surgical management.

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    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.

  17. Maternal genes and facial clefts in offspring

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2010-01-01

    BACKGROUND: Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. METHODOLOGY/PRINCIPAL FINDINGS: Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects [1......]. After data-cleaning, genotypes for 1315 SNPs in 334 autosomal genes were available for the current analysis of maternal gene effects. Two complementary statistical methods, TRIMM and HAPLIN, were used to detect multi-marker effects in population-based samples from Norway (562 case-parent and 592 control......-parent triads) and Denmark (235 case-parent triads). We analyzed isolated cleft lip with or without cleft palate (iCL/P) and isolated cleft palate only (iCP) separately and assessed replication by looking for genes detected in both populations by both methods. In iCL/P, neither TRIMM nor HAPLIN detected more...

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

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

    2015-03-01

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

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

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    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.

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

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    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.

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

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    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 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.

  2. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

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    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery

    2016-01-01

    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

  3. A Case of Complex Facial Clefts Treated with Staged-tissue Expansion

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    Koichi Ueda, MD, PhD

    2014-12-01

    Full Text Available Summary: Craniofacial clefts involve all soft tissue and skeletal elements throughout the cleft. Usefulness of tissue expansion in craniofacial clefts is reported. Surgery for a complex type of facial clefts is more difficult and more extensive than for a simple one. We experienced a primary case of complex facial clefts (Tessier No. 2 and 12 on the right and 3, 11, and 5 on the left. Soft-tissue closure of all clefts could be completed by using 4 tissue expanders and 7 operations. Because multiple tissue deficiencies and abnormalities exist in craniofacial clefts, especially complex type, a planned, staged, sequential approach by tissue expansion is necessary to produce ideal results.

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

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    João Paulo Schwartz

    2014-01-01

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

  5. Facial pattern of patients with post-foramen incisor cleft

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    Leopoldino Capelozza Filho

    2012-10-01

    Full Text Available OBJECTIVE: The assessment and establishment of the facial growth pattern for patients with a cleft palate. MATERIAL: This cross-sectional retrospective study was based on front and profile photos of a sample of 71 patients at the HRAC-USP, 22 males and 49 females, Brazilians, young adults, with a mean age of 17 years 8 months, without previous orthodontic treatment and no associated syndromes. The method was the subjective facial diagnosis based on technical concepts, that is, the qualitative morphologic analysis of the face through clinical examination. Individuals were classified as Pattern I, II, III, Long Face or Short Face. RESULTS: The distribution found with the frontal morphologic analysis was: Pattern I (69%, II (6%, III (7%, Long (18% and Short (0%. As for the profile morphologic analysis, the distribution was: Pattern I (35%, II (38%, III (10%, Long (17% and Short (0%.The distribution observed in the frontal analysis was very positive, since individuals Pattern I prevailed. For the profile evaluation, the anterior-posterior dysplasias were essentially shown, significantly increasing their participation. Long Face Pattern maintained a balance in both ratings and Short Face Pattern was not found in the sample used, probably related to the low prevalence in the general population. CONCLUSION: The prevalence of different Facial Patterns for patients with cleft palate was similar to that found in individuals without cleft.OBJETIVO: avaliar e determinar o padrão de crescimento facial de indivíduos com fissura pós-forame incisivo. MÉTODOS: esse estudo transversal retrospectivo usou fotografias frontais e de perfil de uma amostra de 71 pacientes matriculados no HRAC-USP (Bauru/SP, sendo 22 indivíduos do sexo masculino e 49 do feminino, jovens adultos brasileiros, com idade média de 17 anos e 8 meses, sem tratamento ortodôntico prévio ou síndromes associadas. O método utilizado foi o diagnóstico facial subjetivo, baseado em

  6. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A

    DEFF Research Database (Denmark)

    Boyles, Abee L; Wilcox, Allen J; Taylor, Jack A;

    2009-01-01

    An increased risk of facial clefts has been observed among mothers with lower intake of folic acid or vitamin A around conception. We hypothesized that the risk of clefts may be further moderated by genes involved in metabolizing folate or vitamin A. We included 425 case-parent triads in which th...

  7. Facial aesthetics and perceived need for further treatment among adults with repaired cleft as assessed by cleft team professionals and laypersons.

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    Foo, Peter; Sampson, Wayne; Roberts, Rachel; Jamieson, Lisa; David, David

    2013-06-01

    The objectives of this study were to compare the ratings of professionals and laypeople with and without a cleft regarding the facial aesthetics of adult patients previously treated for orofacial clefting. The necessity for further treatment, as perceived by the respective groups, is also compared. The design of the study was a cross-sectional study. Professionals (two plastic surgeons, one dentist, one orthodontist, and one psychologist) and laypeople (one male and one female adult without a cleft and one male and one female adult with a cleft) were recruited to rate photographs of 80 non-syndromic cleft patients treated by the Australian Craniofacial Unit from 1975 to 2009. Facial aesthetics were measured by a visual analogue scale (VAS; 0-100 mm). High values indicated good aesthetics. Necessity for further treatment was also measured by a VAS (0-100 mm). High values indicated high perceived need for further treatment. The professionals rated facial aesthetics significantly lower and had a lower perception of need for further treatment than the raters with and without a cleft. The laypeople with a cleft rated facial aesthetics significantly higher and had a lower perceived need for further treatment than laypeople without a cleft. The non-surgical professionals rated facial aesthetics significantly lower and had a lower perceived need for further treatment than the surgical professionals. Differences exist in the facial aesthetics ratings and perceived need for further surgery between professionals and laypeople with and without a cleft. This should be considered when managing cleft treatment expectations.

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

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    Lourdes Quintanilla-Dieck

    2016-01-01

    Full Text Available 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.

  9. Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.

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    Astanand Jugessur

    Full Text Available BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads. METHODOLOGY/PRINCIPAL FINDINGS: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of SNPs and estimates relative risks associated with each haplotype. For isolated cleft lip with or without cleft palate (I-CL/P, TRIMM and HAPLIN both identified significant associations with IRF6 and ADH1C in both populations, but only HAPLIN found an association with FGF12. For isolated cleft palate (I-CP, TRIMM found associations with ALX3, MKX, and PDGFC in both populations, but only the association with PDGFC was identified by HAPLIN. In addition, HAPLIN identified an association with ETV5 that was not detected by TRIMM. CONCLUSION/SIGNIFICANCE: Strong associations with seven genes were replicated in the Scandinavian samples and our approach effectively replicated the strongest previously known association in clefting--with IRF6. Based on two national cleft cohorts of similar ancestry, two robust statistical methods and a large panel of SNPs in the most promising cleft candidate genes to date, this study identified a previously unknown association with clefting for ADH1C and provides additional candidates and analytic approaches to advance the field.

  10. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

    DEFF Research Database (Denmark)

    Saadi, Irfan; Alkuraya, Fowzan S; Gisselbrecht, Stephen S;

    2011-01-01

    morphogenesis. During murine embryogenesis, Specc1l is expressed in cell populations of the developing facial primordial, which proliferate and fuse to form the face. In zebrafish, knockdown of a SPECC1L homolog produces a faceless phenotype with loss of jaw and facial structures, and knockdown in Drosophila......Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial...

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

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

    2015-11-01

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

  12. Dental anomalies in children with cleft lip and palate in Western Australia

    Science.gov (United States)

    Nicholls, Wendy

    2016-01-01

    Objective: The purpose of this paper was to describe the prevalence and type of dental anomalies in the primary and permanent dentition in children with a cleft condition at Princess Margaret Hospital in Perth, Western Australia. Materials and Methods: The details of 162 current dental patients extracted from the main dental database through their year of birth for the period 1998–2001 were selected consecutively. Dental records and X-rays were examined by one examiner (WN) and verified by a second examiner (RB) to determine dental development. The mean age of the subjects was 10.8 years with equal numbers of males and females. Subjects were further divided into cleft type; unilateral cleft lip (UCL) and palate, bilateral cleft lip (BCL) and palate, UCL, BCL, and cleft palate. Results: One hundred sixty-two subjects were grouped into 21 categories of anomaly or abnormality. Prevalence rates for the categories were calculated for the overall group and for gender and cleft type. Conclusion: Overall, 94% of patients were found to have at least one dental anomaly, with fifty-six (34%) patients having more than one anomaly or abnormality. PMID:27095907

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

    Science.gov (United States)

    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.

  14. Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus.

    Science.gov (United States)

    Wattanasirichaigoon, Duangrurdee; Visudtibhan, Anannit; Jaovisidha, Suphaneewan; Laothamatas, Jiraporn; Chunharas, Amornsri

    2004-07-01

    We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, cleft palate and hydrocephalus developing later in infancy. The clinical course of the patient and neuroimaging studies are described. Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity.

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

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    Obimakinde Obitade S

    2009-05-01

    Full Text Available Abstract 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.

  16. Hypertelorism and micro-orbit simultaneous correction in a patient with paramedian bilateral facial clefts.

    Science.gov (United States)

    Prada, José Rolando; Mendoza, María Bibiana

    2014-09-01

    The aim of this paper is to report a case of a patient with paramedian bilateral facial clefts and hypertelorism associated with a severe encephalocele and micro-orbit. The patient required a facial bipartition to correct a transsphenoidal encephalocele, and a modified medialization surgery of the orbits to simultaneously expand the micro-orbit and correct the hypertelorism. These procedures achieved hypertelorbitism correction, orbital expansion which allowed symmetrical facial growth, and a functional orbit that permitted the use of an ocular prosthesis. We present this unique case to highlight the predictable results of a procedure that combines 2 surgical reproducible techniques of craniofacial surgery.

  17. Options for the nasal repair of non-syndromic unilateral Tessier no. 2 and 3 facial clefts

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    Srinivas Gosla Reddy

    2014-01-01

    Full Text Available Background: Non-syndromic Tessier no. 2 and 3 facial clefts primarily affect the nasal complex. The anatomy of such clefts is such that the ala of the nose has a cleft. Repairing the ala presents some challenges to the surgeon, especially to correct the shape and missing tissue. Various techniques have been considered to repair these cleft defects. Aim: We present two surgical options to repair such facial clefts. Materials and Methods: A nasal dorsum rotational flap was used to treat patients with Tessier no. 2 clefts. This is a local flap that uses tissue from the dorsal surface of the nose. The advantage of this flap design is that it helps move the displaced ala of a Tessier no. 2 cleft into its normal position. A forehead-eyelid-nasal transposition flap design was used to treat patients with Tessier no. 3 clefts. This flap design includes three prongs that are rotated downward. A forehead flap is rotated into the area above the eyelid, the flap from above the eyelid is rotated to infra-orbital area and the flap from the infraorbital area that includes the free nasal ala of the cleft is rotated into place. Results and Conclusions: These two flap designs show good results and can be used to augment the treatment options for repairing Tessier no. 2 and 3 facial clefts.

  18. Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

    DEFF Research Database (Denmark)

    Dolk, Helen; Wang, Hao; Loane, Maria

    2016-01-01

    OBJECTIVE: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA). METHODS: This was a population-based case-malformed control study based on 21 EUROCAT CA registries coveri...

  19. Effect of infant orthopedics on facial appearance of toddlers with complete unilateral cleft lip and palate (Dutchcleft).

    NARCIS (Netherlands)

    Bongaarts, C.A.M.; Prahl-Andersen, B.; Bronkhorst, E.M.; Spauwen, P.H.M.; Mulder, J.W.; Vaandrager, J.M.; Kuijpers-Jagtman, A.M.

    2008-01-01

    OBJECTIVE: To evaluate the effect of infant orthopedics (IO) on facial appearance of 54 patients with unilateral cleft lip and palate (UCLP), aged 4 and 6 years. DESIGN: Prospective two-arm randomized controlled clinical trial in three Cleft Palate Centers in the Netherlands (Dutchcleft-trial).

  20. Effect of infant orthopedics on facial appearance of toddlers with complete unilateral cleft lip and palate (Dutchcleft)

    NARCIS (Netherlands)

    Bongaarts, C.A.M.; Prahl-Andersen, B.; Bronkhorst, E.M.; Spauwen, P.H.M.; Mulder, J.W.; Vaandrager, J.M.; Kuijpers-Jagtman, A.M.

    2008-01-01

    Objective: To evaluate the effect of infant orthopedics (IO) on facial appearance of 54 patients with unilateral cleft lip and palate (UCLP), aged 4 and 6 years. Design: Prospective two-arm randomized controlled clinical trial in three Cleft Palate Centers in the Netherlands (Dutchcleft-trial).

  1. Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: a national validation study.

    Science.gov (United States)

    Rozendaal, A M; Luijsterburg, A J M; Ongkosuwito, E M; van den Boogaard, M-J H; de Vries, E; Hovius, S E R; Vermeij-Keers, C

    2012-06-01

    Since 1997, the 15 Dutch cleft palate teams have reported their patients with oral clefts to the national oral cleft registry (NVSCA). During the first visit of the patient to the team - which is usually within the first year of life - the oral cleft and associated congenital anomalies are recorded through a unique recording form by a plastic surgeon/orthodontist/paediatrician. In this study, we evaluated the quality of data on congenital anomalies associated with clefts. We drew a random sample of 250 cases registered in the national database with oral clefts from 1997 through 2003; of these, 13 were excluded. Using two independent reregisters derived from two-phased medical data review, we analysed whether associated anomalies were correctly diagnosed and recorded. The agreement on associated anomalies between the NVSCA and medical data ranged from moderate to poor (kappa 0.59 to 0). Seventy-seven percent of the craniofacial anomalies were underreported in the NVSCA: 30% due to delayed diagnosis and 47% due to deficient recording. Additionally, 80% of the associated anomalies of other organ systems were underreported: 52% due to delayed diagnosis and 28% due to deficient recording. The reporting of final diagnoses was somewhat better; however, 54% were still underreported (24% delayed diagnosis and 30% deficient recording). The rate of overreporting was 1.6% or lower. Congenital anomalies associated with clefts are underreported in the NVSCA because they are under diagnosed and deficiently recorded during the first consultations with the cleft palate teams. Our results emphasise the need for routine and thorough examination of patients with clefts. Team members should be more focussed on co-occurring anomalies, and early genetic counselling seems warranted in most cases. Additionally, our findings underline the need for postnatal follow-up and ongoing registration of associated anomalies; reregistration in the NVSCA at a later age is recommended. Copyright

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

    Science.gov (United States)

    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 palate repair had a reduced posterior maxillary vertical height (R-PMP, p 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.

  3. Dental anomalies in different cleft groups related to neural crest developmental fields contributes to the understanding of cleft aetiology

    DEFF Research Database (Denmark)

    Riis, Louise Claudius; Kjær, Inger; Mølsted, Kirsten

    2014-01-01

    , radiographs, dental casts, and medical records. PATIENTS: Ninety individuals (30 cleft lip, 30 cleft palate, and 30 combined cleft lip and palate), aged 5-27 years. MAIN OUTCOME MEASURES: Visual evaluation of tooth number and tooth morphology. RESULTS: Cleft lip: Dental deviations were predominantly observed...... in the frontonasal field. Supernumerary lateral incisors occurred significantly more often in cleft lip compared to other cleft types. Cleft palate: Dental deviations were observed in the maxillary and palatal fields indicating that both fields are involved in the development of cleft palate. Malformed roots were...... seen significantly more often in cleft palate. Combined cleft lip and palate: Number and type of dental deviations differed significantly from deviations in other cleft types, e.g. significantly more ageneses. CONCLUSIONS: Cleft lip seems to be caused by a disorder in neural crest migration...

  4. Anaesthesia in Congenital Facial Anomalies in a Rural Set up of a Developing Country

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    Debasish Saha

    2015-01-01

    Full Text Available Background: India has an estimated backlog of 1000000 cleft patients. A total of 35000 new cleft patients are born each year. With the capacity to operate on approximately 50000 patients each year only 15000 patients from the national backlog can be operated upon each year if capability is not augmented. Objectives: To reach the population at large we meticulously planned an out-reach programme and operated on patients even in rural set ups with lack of modern facilities. We operated on patients at sub divisional centres, where apparatus for providing sevoflurane was not available. Institutional Ethical clearance was taken before conduction of the study. Patients who required prolonged surgery were taken to the tertiary centre. Working ventilators were also not available at peripheral centres. Materials and Methods: This interventional study was carried in a time span of four years on nineteen hundred and nine patients, after taking approval from the Institutional Ethical Committee. Patients were screened and some were operated at rural centers and others at a tertiary care centre. Patients who could not afford to come to the tertiary care centre were operated at different rural centers. Informed consent was taken. Results: There were 1909 patients with Congenital Facial Anomalies (CFA over four years period out of which 918 patients were of either unilateral or bilateral cleft lip. They were successfully operated at rural health centers with limited facilities. This could reduce the total load of surgeries for CFA at tertiary care hospital ensuring safe surgeries for all with CFA for all age groups and both genders.No mortality was recorded and post operative complications consisted of nausea and vomiting, three had delayed recovery and one had laryngospasm. Conclusion: Outreach programmes can increase the efficacy of Smile Train Project and effective screening of patients before surgery can result in fruitful outcomes even in a rural set up

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

    Directory of Open Access Journals (Sweden)

    Yifan Lin

    Full Text Available 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.

  6. [Orthomorphic facial treatment of patients with sequelae of bilateral lip-palate cleft by the "mask-lifting" procedure].

    Science.gov (United States)

    Krastinova-Lolov, D; Roddi, R

    1990-12-01

    The clinical study of the major cranio-facial malformations such as Apert syndrome, Treacher-Collins syndrome, Blepharophimosis and Bilateral Cleft Palate patients, lead us to note a similarity of the orbito-palpebral region. A characteristic obliquity and narrowness of the orbits associated with an antimongoloid eyelids disposal was noted after X-rays, CT-scan and clinical evaluation. Authors suggest a facial orthomorphic restoration of bilateral cleft palate patients by the "mask-lifting" procedure associated to the conventional maxillo-facial surgery.

  7. Three-dimensional quantitative evaluation of facial morphology in adults with unilateral cleft lip and palate, and patients without clefts.

    Science.gov (United States)

    Othman, Siti Adibah; Ahmad, Roshahida; Asi, Salina Mohd; Ismail, Nor Hidayah; Rahman, Zainal Ariff Abdul

    2014-03-01

    The aims of this study were to assess the quantitative values of measurements using proportion indices in the craniofacial region in patients with repaired, non-syndromic, complete unilateral cleft lip and palate (UCLP), and compare them with a control group who did not have clefts using the non-invasive systems of 3-dimensional technology. Three-dimensional measurements of the facial surfaces of 15 Malay patients who had UCLP repaired and 100 Malay control patients aged 18-25 years were analysed. The 3-dimensional images of the respondents' faces were captured using the VECTRA-3D Stereophotogrammetry System. Eleven craniofacial proportions were assessed using a combination of 18 linear measurements obtained from 21 anthropometric soft tissue landmarks. These measurements were used to produce proportion indices to find the differences in the morphological features between the groups, and assessed using the independent sample t test and z scores. There were significant differences between the groups in 7 out of 11 craniofacial proportion indices (p=0.001-0.044). Z scores of 2 indices were disproportionate. They were nasal index (which was severely supernormal) and upper lip index (which was moderately supernormal). Patients with UCLP had higher mean z scores, indicating that patients with UCLP tended to have larger faces than the control group. There were clinically important differences mainly in the nasolabial area, where the nose and the upper lip were wider, larger, or flatter in patients with UCLP.

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

    Science.gov (United States)

    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 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.

  9. Facial soft-tissue morphology of adolescent patients with nonsyndromic bilateral cleft lip and palate.

    Science.gov (United States)

    Hasanzadeh, Nadia; Majidi, Mohammad Reza; Kianifar, Hamidreza; Eslami, Neda

    2014-01-01

    The purpose of this study was to cephalometrically evaluate the facial soft-tissue characteristics of adolescent patients with bilateral cleft lip and palate (BCLP) and to compare them with a noncleft control group. Lateral cephalometric radiographs obtained from 56 adolescents with nonsyndromic BCLP (29 boys and 27 girls) were analyzed and compared with 67 control subjects (29 boys and 38 girls) who were matched for sex, age, and ethnicity. All patients had been operated on before the age of 2 years for the surgical repair of cleft lip and palate. None had received any orthopedic or orthodontic treatment. Independent-samples t test revealed that patients with BCLP significantly differed from the control group by having a flatter facial profile, thinner and more retruded nasal base, flatter nasal tip (in males), and reduced upper-lip length. Furthermore, thicker lower-lip pit, shallower mentolabial sulcus, and increased inclination angles of the upper and lower lips relative to the horizontal plane were observed in female patients compared with the normal group. The findings of the current study suggested that adolescent patients with BCLP showed several facial soft-tissue deformities when compared with normal individuals with the same age, sex, and ethnic origin. This study provides objective measures that could lead to better treatment planning and prediction of the need for corrective surgeries in patients with BCLP.

  10. 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

    Science.gov (United States)

    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.

  11. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

    Directory of Open Access Journals (Sweden)

    Miyake T

    2016-07-01

    Full Text Available Tomoko Miyake,1 Shota Kojima,1 Tetsuya Sugiyama,2 Mari Ueki,1 Jun Sugasawa,1 Hidehiro Oku,1 Kensuke Tajiri,1 Yuka Shigemura,3 Koichi Ueda,3 Atsuko Harada,4 Mami Yamasaki,4 Takumi Yamanaka,4 Hidetsuna Utsunomiya,5 Tsunehiko Ikeda1 1Department of Ophthalmology, Osaka Medical College, Takatsuki City, 2Nakano Eye Clinic of Kyoto Medical Co-operative, Kyoto, 3Department of Plastic and Reconstructive Surgery, Osaka Medical College, Takatsuki City, 4Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City, 5Department of Radiological Science, International University of Health and Welfare, Graduate School, Fukuoka, Japan Introduction: The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. Case report: A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen® XL (Reichert Technologies, Depew, NY, USA handheld applanation tonometer revealed that her intraocular pressure was 11–22 mmHg (Oculus Dexter and 8 mmHg (Oculus Sinister. B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15–16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound

  12. Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

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    J. Roosenboom

    2015-01-01

    Full Text Available Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways.

  13. [Echodactyly syndrome, ectodermic dysplasia, facial cleft, and EEC syndrome : report on 12 cases (author's transl)].

    Science.gov (United States)

    Psaume, J; Gray, F; Cousteau, C; Trigo, G

    1981-01-01

    Twelve cases of a rare syndrome are reported. Findings included a facial cleft, adactyly of the 2nd and 3rd fingers and 2nd and 3rd toes, and ectodermic dysplasia involving anodontia, hypotrichosis, and albinoid type pigmentation of the skin and the exoskeleton, with clear eyes and chronic conjunctivitis. An interesting finding was that the anodontia affected the permanent teeth only, initially involving the incisors and the second premolars (nine cases out of twelve). Inversely, the deciduous teeth were unaffected, except for the upper first molars in two cases. The canines, usually constantly present, were absent in two out of three cases.

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

    Science.gov (United States)

    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

  15. Surgery Navigation in Treating Congenital Midfacial Dysplasia of Patients With Facial Cleft.

    Science.gov (United States)

    Li, Dong; Bai, Shanshan; Yu, Zheyuan; Xu, Liang; Yuan, Jie; Xu, Haisong; Wei, Min

    2017-09-01

    To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients. After 6 to 12 months of follow-up, the authors analyzed the differences between preoperative planning and postoperative results through computed tomography data. Patients were satisfied with surgery, and computed tomography data showed that there was little difference between preoperative planning and postoperative results with the navigation-assisted surgery. Using expanded frontal flap with navigation-assisted surgery for peri-pyriform advancement, the authors could treat congenital nasal deformity and midfacial dysplasia effectively, accurately, and safely in craniofacial cleft patients.

  16. 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.

    Science.gov (United States)

    Freitas, José Alberto de Souza; Garib, Daniela Gamba; Oliveira, Marchini; Lauris, Rita de Cássia Moura Carvalho; Almeida, Ana Lúcia Pompéia Fraga de; 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.

  17. 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

    Science.gov (United States)

    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

  18. Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

    Science.gov (United States)

    Elmann, Solly; Hanson, Sarah A; Bunce, Christopher N; Shinder, Roman

    2015-01-01

    A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement.

  19. Cleft Lip and Palate (For Parents)

    Science.gov (United States)

    ... or genes that cause cleft palate or cleft lip. Clefts happen more often in children of Asian, Latino, ... with a facial birth defect like a cleft lip or cleft palate. Related Health Problems As you might imagine, ...

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

    Science.gov (United States)

    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.

  1. Multiple dental anomalies accompany unilateral disturbances in abducens and facial nerves: A case report

    Directory of Open Access Journals (Sweden)

    Elham Talatahari

    2016-01-01

    Full Text Available This article describes the oral rehabilitation of an 8-year-old girl with extensively affected primary and permanent dentition. This report is unique in which distinct dental anomalies including enamel hypoplasia, irregular dentin formation, taurodontism, hpodontia and dens in dente accompany unilateral disturbance of abducens and facial nerves which control the lateral eye movement, and facial expression, respectively.   Keywords: enamel hypoplasia; irregular dentin formation; taurodontism; hypodontia; dens in dente; abducens and facial nerves;

  2. A lethal syndrome resembling branchio-oculo-facial syndrome.

    Science.gov (United States)

    Hing, A V; Torack, R; Dowton, S B

    1992-02-01

    Branchio-oculo-facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocular anomalies, and unusual facial appearance. A patient with branchial cleft fistulae, microphthalmia, nasomaxillary dysplasia, in addition to cardiac and CNS malformation (holoprosencephaly and meningo-encephalocele), is described. Although many features of this lethal malformation complex resemble those seen in the branchio-oculo-facial syndrome, the complex may represent a new multiple malformation syndrome.

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

    Directory of Open Access Journals (Sweden)

    Surekha Chavan

    2014-01-01

    Full Text Available 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.

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

    Science.gov (United States)

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

    2017-05-01

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

  5. The most common genetic syndromes and associated anomalies in Latvian patients with cleft lip with or without palate.

    Science.gov (United States)

    Lace, Baiba; Barkane, Biruta; Akota, Ilze

    2006-01-01

    1 over 700 newborns every year is born with cleft lip with/or without palate, in 30% of cases there is a certain genetic mechanism underlying development of disease: chromosomal anomalies, monogenic diseases, exposure to teratogens or in utero disruptive mechanisms. The objective of our study is to describe the most common genetic syndromes and associated anomalies in patients with CL/CP in Latvia. Study material was medical records obtained from Riga Cleft Lip and Palate Centre Registry in a time period of 1980 till 2005. There was analyzed information about patients with identified genetic syndromes and associated anomalies. In a time period from 1980 till 2005, the following genetic syndromes were identified: Van der Woude, Fetal alcohol syndrome, Holzgreve syndrome, Marfan syndrome, Myotonic dystrophy, Klippel-Feil syndrome, Patau syndrome, Potter sequence and Pierre Robin sequence. 16% of CL/CP patients have recognized genetic syndromes or associated anomalies, including profound, severe and moderate mental retardation. Number is lower than expected, but still correlates with date presented in other populations. Long term follow-up of multidisciplinary specialists which includes cardiologists, clinical-geneticists and paediatricians, is needed for CL/CP patients with associated anomalies in order to identify timely side diseases and complications. Grant: Baltic-Taiwan joint research project "Identification of genes involved in craniofacial morphogenesis and susceptibility to orofacial clefting in a human genome scan 2004-2006".

  6. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Debangshu Ghosh

    2015-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

  7. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

    Science.gov (United States)

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-10-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

  8. Perceptions of family members of children with cleft lip and palate in hyderabad, India, and its rural outskirts regarding craniofacial anomalies: a pilot study

    NARCIS (Netherlands)

    Naram, A.; Makhijani, S.N.; Naram, D.; Reddy, S.G.; Reddy, R.R.; Lalikos, J.F.; Chao, J.D.

    2013-01-01

    Objective : This pilot study aimed to understand cultural perspectives on cleft anomalies in the community of Hyderabad, India, and its rural outskirts. Design : Interviews focusing on perceptions of cleft lip and palate were conducted using a 21-item interview guide approved by the director of the

  9. Perceptions of family members of children with cleft lip and palate in hyderabad, India, and its rural outskirts regarding craniofacial anomalies: a pilot study

    NARCIS (Netherlands)

    Naram, A.; Makhijani, S.N.; Naram, D.; Reddy, S.G.; Reddy, R.R.; Lalikos, J.F.; Chao, J.D.

    2013-01-01

    Objective : This pilot study aimed to understand cultural perspectives on cleft anomalies in the community of Hyderabad, India, and its rural outskirts. Design : Interviews focusing on perceptions of cleft lip and palate were conducted using a 21-item interview guide approved by the director of the

  10. Bilateral microform cleft lip

    OpenAIRE

    Pace, David; Attard Montalto, Simon; Grech, Victor E.

    2006-01-01

    Microform cleft lip (MCL), also called congenital healed cleft lip or cleft lip "frustré", is a rare congenital anomaly. MCL has been described as having the characteristic appearance of a typical cleft lip which has been corrected in utero. We present a girl with bilateral microform cleft lip associated with a preauricular sinus and bilateral camptodactyly.

  11. Long-term influence of infant periosteoplasty on facial growth and occlusion in patients with bilateral cleft lip and palate.

    Science.gov (United States)

    Andlin Sobocki, Anna; Tehrani, David; Skoog, Valdemar

    2012-09-01

    This retrospective, long-term study evaluated the influence of two different treatment protocols, one including infant periosteoplasty, on facial growth and occlusion in patients with complete bilateral cleft lip and palate (BCLP). Thirty-five patients with records of 5-, 8- and 16-19-year-olds were included. Sixteen of these received infant periosteoplasty (BCLP-pp) to the cleft alveolus in conjunction with lip repair and a one-stage closure of the palate. The remaining 19 patients with a two-stage closure of the palate did not have an infant periosteoplasty (BCLP-np). The bone formation induced by periosteoplasty in the BCLP-np group was insufficient and both groups had secondary bone grafting to the alveolar clefts before the eruption of the lateral incisor or the canine. Facial growth was evaluated with cephalometry at the recorded ages and dental arch relationships with the Huddart and Bodenham crossbite scores at the age of 16-19 years. Until 19 years a significant retrusion of the maxillary position (SNA) was observed in both groups. At 16-19 years of age there was no significant difference of maxillary protrusion (SNA), intermaxillary position (ANB), maxillary length (ss-pm) or vertical skeletal relationships (ML/NSL, Ml/NL) between the two groups. However, a significant difference of the crossbite scores was found. The BCLP-pp group did not show more facial growth problems but more malocclusion and the insufficient bone formation of the alveolar clefts after infant periosteoplasty required a secondary bone grafting.

  12. A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

    Directory of Open Access Journals (Sweden)

    Liliana Otero

    2012-01-01

    Full Text Available Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

  13. 面横裂的功能性整复%Application of Functional Reconstruction in Transverse Facial Cleft

    Institute of Scientific and Technical Information of China (English)

    沈德武; 万延俊; 张红闯; 李虹; 梁军铭; 张阳

    2012-01-01

    目的 探索面横裂的功能性整复手术的临床效果.方法 自2003~2011年间,对11例先天性面横裂患儿行面横裂整复术,采用反向双“Z”字成形联合口轮匝肌复位重建.结果 11例患儿术后随访3~12个月,术后无1例出现口角炎、口角溃烂等并发症,唇外形自然,运动协调,颊部丰满.结论 面横裂的功能性整复手术,可以较大程度改善上下唇的运动协调性,术后患者表情自然.%Objective To explore the effect of functional reconstruction in the reconstruction of transverse facial cleft-Methods From 2003 to 2011, 11 cases with transverse facial cleft were repaired by functional reconstruction. The skin of cheek was crossed by Z flap to prevent the scar from shrinking straightly and the thin tissues from depressed deformity. Functional muscle trimming was done to repair the ring structure of musculus orbicularis oris. Results All the patients were followed for 3 to 12 months and there were no angular chilitis and formation of ulceration. The natural appearance of the lips, coordinate movements and plump cheeks were achieved. Conclusion Functional reconstruction of transverse facial cleft could improve the coordinate lip movements greatly and achieve natural facial expression.

  14. Comparison of dermatoglyphic traits and dental anomalies associated with cleft lip or cleft lip and palate patients with normal healthy children

    Directory of Open Access Journals (Sweden)

    Neha Maheshwari

    2013-01-01

    Full Text Available Background: Dermatoglyphics are considered as a window of congenital abnormalities and is known to be one of the best available diagnostic tools in genetic disorders. Objective: The present study was conducted to observe and compare the differences in the dermatoglyphic patterns between cleft lip/palate (CL/P and normal healthy children and evaluate their associated dental findings. Setting: This is a cross-sectional prevalence study in which dermatoglyphic patterns and dental anomalies of 90 (CL/P and normal healthy children aged 0-15 years were recorded under standard conditions of seating and lighting. Materials and Methods: Dermatoglyphic traits were recorded using ink stamp pad method. Dental findings were recorded through clinical and radiographic examination. Results: The most frequently seen dermatoglyphic trait in the study and control group was loops followed by whorls and arches. A highly significant (P < 0.001 difference between loops in the study and control group and statistically significant difference in the whorls (P = 0.001 were found using Student′s t-test. The comparison of dental anomalies was accomplished using Chi-square test and hypodontia (50% was seen maximum in cleft patients. Conclusion: Any deviation in dermatoglyphics features indicates a genetic etiology.

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

    Science.gov (United States)

    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.

  16. The effect of muscle repair on postoperative facial skeletal growth in children with bilateral cleft lip and palate.

    Science.gov (United States)

    Nagase, T; Januszkiewicz, J S; Keall, H J; de Geus, J J

    1998-12-01

    The effect of orbicularis muscle repair on postoperative facial skeletal growth in bilateral cleft lip and palate patients was studied by analysis of cephalometric radiographs and dental casts. Sixty-two patients operated on between 1961-1989 were selected for the study. They were divided into three groups, group 1a (muscle repair; n = 12), group 1b (failed attempt at muscle repair; n = 5), and group 2 (no attempt at muscle repair; n = 45). Comparison of the morphological measurements among these three groups showed that there was a trend towards crossbite in the muscle repair group, but this difference was not significant. Mechanisms by which muscle repair might influence maxillofacial skeletal growth include the possibility that the area around the nasal septum might be the growth centre. The choice of operative technique in bilateral cleft lip and palate should be important.

  17. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

    NARCIS (Netherlands)

    Greef, J.C. de; Wang, J.; Balog, J.; Dunnen, J.T. den; Frants, R.R.; Straasheijm, K.R.; Aytekin, C.; Burg, M. van der; Duprez, L.; Ferster, A.; Gennery, A.R.; Gimelli, G.; Reisli, I.; Schuetz, C.; Schulz, A.; Smeets, D.F.C.M.; Sznajer, Y.; Wijmenga, C.; Eggermond, M.C. van; Ostaijen-ten Dam, M.M. van; Lankester, A.C.; Tol, M.J. van; Elsen, P.J. van den; Weemaes, C.M.R.; Maarel, S.M. van der

    2011-01-01

    Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly characterized by recurrent, often fatal, respiratory and gastrointestinal infections. About 50% of patients carry mutations in the DNA methyltransferase 3B gene (DNMT3B) (ICF1). The remaining

  18. Oral Clefts: Describing and classifying sub-phenotypes and associated anomalies

    NARCIS (Netherlands)

    A.M. Rozendaal (Annemarie)

    2013-01-01

    markdownabstract__Abstract__ The unexpected diagnosis of an oral cleft before or after birth is a shocking and traumatic experience for parents and their social environment, generating anxiety as well as numerous questions. What is an oral cleft? Why didn’t our baby’s mouth fully develop? How

  19. Cleft Palate; A Multidiscipline Approach.

    Science.gov (United States)

    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;…

  20. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 1: overall aspects

    Science.gov (United States)

    FREITAS, José Alberto de Souza; NEVES, Lucimara Teixeira das; de ALMEIDA, Ana Lúcia Pompéia Fraga; GARIB, Daniela Gamba; TRINDADE-SUEDAM, Ivy Kiemle; YAEDÚ, Renato Yassutaka Faria; LAURIS, Rita de Cássia Moura Carvalho; SOARES, Simone; OLIVEIRA, Thais Marchini; PINTO, João Henrique Nogueira

    2012-01-01

    Cleft lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. This paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP) along 40 years of experience in the treatment of individuals with cleft lip and palate. PMID:22437671

  1. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP - Part 1: overall aspects

    Directory of Open Access Journals (Sweden)

    José Alberto de Souza Freitas

    2012-02-01

    Full Text Available Cleft lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. This paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP along 40 years of experience in the treatment of individuals with cleft lip and palate.

  2. Hard palate-repair technique and facial growth in patients with cleft lip and palate: a systematic review.

    Science.gov (United States)

    Lee, Ying-Hsin; Liao, Yu-Fang

    2013-12-01

    The vomer flap technique for repair of the hard palate is assumed to improve maxillary growth because it causes less scarring in growth-sensitive areas of the palate. The aim of this systematic review was to investigate the effect of techniques using the vomer flap compared with the palatal flap on facial growth in patients with cleft lip and palate. All papers published before 21 July 2012 were sought in the databases PubMed and MEDLINE. Search terms included "facial growth", "cleft lip and palate", "palatal repair technique", and "vomer flap". Additional studies were identified by hand searching the reference lists of the papers retrieved from the electronic search. Two independent reviewers assessed the eligibility of studies for inclusion, extracted the data, and assessed the quality of the methods. Six studies met the selection criteria. Outcomes assessed in 4 studies were dentofacial morphology after vomer or palatal flap, maxillary dental arch in 1 study, and dental arch relations in 2 studies. The quality of the methods used in 3 studies was poor. Contradictory results and a lack of high-quality and long-term outcomes of reviewed studies provided no conclusive scientific evidence about whether the vomer flap technique has more or less of an adverse effect on maxillary growth than the palatal flap. Further well-designed, well-controlled, and long-term studies particularly of the vomer flap (2-stage) and palatal flap (von Langenbeck or two-flap, 1-stage) are needed.

  3. Team approach to management of oro‑facial cleft among African ...

    African Journals Online (AJOL)

    2012-02-10

    Feb 10, 2012 ... (44 respondents) of the specialists belonged to cleft teams. Majority of Oral .... in Government [non teaching] hospitals, while others work in private hospitals. .... A national survey of team organization and standards of care.

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

    Science.gov (United States)

    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. A Pilot Study on the Influence of Facial Expression on Measurements in Three-Dimensional Digital Surfaces of the Face in Infants With Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron Andre; Larsen, P.

    2016-01-01

    Objective Three-dimensional surface imaging is an increasingly popular modality for face measurements in infants with cleft lip and palate. Infants are noncompliant toward producing specific facial expressions, and selecting the appropriate moment of acquisition is challenging. The objective...... was to estimate amount and spatial distribution of deformation of the face due to facial expression in infants with cleft lip and palate and provide recommendations for an improved acquisition protocol, including a method of quality control in terms of obtaining images with true neutral expression. Material...... and Method s Three-dimensional surface images of ten 4-month-old infants with unrepaired cleft lip and palate were obtained using a 3dMDface stereophotogrammetric system. For each subject, five surface images judged as representing a neutral expression were obtained during the same photo session. Mean...

  6. Facial esthetics in children with unilateral cleft lip and palate 3 years after alveolar bonegrafting combined with rhinoplasty between 2 and 4 years of age

    NARCIS (Netherlands)

    Offert, B.; Janiszewska-Olszowska, J.; Dudkiewicz, Z.; Brudnicki, A.; Katsaros, C.; Fudalej, P.S.

    2013-01-01

    OBJECTIVES: To evaluate facial esthetics in patients with unilateral cleft lip and palate (UCLP) after alveolar bone grafting combined with rhinoplasty between 2 and 4 years of age. DESIGN: Retrospective case-control study. SETTING: The Department of Pediatric Surgery, Institute of Mother and Child,

  7. Facial esthetics in children with unilateral cleft lip and palate 3 years after alveolar bonegrafting combined with rhinoplasty between 2 and 4 years of age.

    NARCIS (Netherlands)

    Offert, B.; Janiszewska-Olszowska, J.; Dudkiewicz, Z.; Brudnicki, A.; Katsaros, C.; Fudalej, P.S.

    2013-01-01

    OBJECTIVES: To evaluate facial esthetics in patients with unilateral cleft lip and palate (UCLP) after alveolar bone grafting combined with rhinoplasty between 2 and 4 years of age. DESIGN: Retrospective case-control study. SETTING: The Department of Pediatric Surgery, Institute of Mother and Child,

  8. Orthognathic Surgery for Achieving Facial Balance and Harmony in Cleft Patients

    Institute of Scientific and Technical Information of China (English)

    Kenneth E Salyer; XU Hai-song

    2015-01-01

    Cleft surgery requires an expert team performing ongoing treatment in order to achieve optimal outcomes. The senior author's (KES) experiences of more than 2 000 patients with cleft lip and palate treated by a surgical-orthodontic protocol were introduced. The paper here will concentrate on not only correcting the occlusion as others have described, but also on what one surgeon can do to achieve optimal aesthetic balance, harmony and beauty. The results of orthognathic surgery in respect to function, stability, cosmesis, and complications are also audited.

  9. Skeletal facial balance and harmony in the cleft patient: Principles and techniques in orthognathic surgery

    Directory of Open Access Journals (Sweden)

    Salyer Kenneth

    2009-10-01

    Full Text Available The management of the palatal cleft, dental arch, and subsequent maxillary form is a challenge for the craniomaxillofacial surgeon. The purpose of this paper is to present the experience of a senior surgeon (KES who has treated over 2000 patients with cleft lip and palate. This paper focuses on the experience of a recent series of 103 consecutive orthognathic cases treated by one surgeon with a surgical-orthodontic, speech-oriented approach. It will concentrate on not only correcting the occlusion, as others have described, but also on how a surgeon who was trying to achieve optimal aesthetic balance, harmony, and beauty, approached this problem.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

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

    2017-06-01

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

  12. Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage.

    Science.gov (United States)

    Green, Rebecca M; Feng, Weiguo; Phang, Tzulip; Fish, Jennifer L; Li, Hong; Spritz, Richard A; Marcucio, Ralph S; Hooper, Joan; Jamniczky, Heather; Hallgrímsson, Benedikt; Williams, Trevor

    2015-01-01

    Failure of facial prominence fusion causes cleft lip and palate (CL/P), a common human birth defect. Several potential mechanisms can be envisioned that would result in CL/P, including failure of prominence growth and/or alignment as well as a failure of fusion of the juxtaposed epithelial seams. Here, using geometric morphometrics, we analyzed facial outgrowth and shape change over time in a novel mouse model exhibiting fully penetrant bilateral CL/P. This robust model is based upon mutations in Tfap2a, the gene encoding transcription factor AP-2α, which has been implicated in both syndromic and non-syndromic human CL/P. Our findings indicate that aberrant morphology and subsequent misalignment of the facial prominences underlies the inability of the mutant prominences to fuse. Exencephaly also occured in some of the Tfap2a mutants and we observed additional morphometric differences that indicate an influence of neural tube closure defects on facial shape. Molecular analysis of the CL/P model indicates that Fgf signaling is misregulated in the face, and that reducing Fgf8 gene dosage can attenuate the clefting pathology by generating compensatory changes. Furthermore, mutations in either Tfap2a or Fgf8 increase variance in facial shape, but the combination of these mutations restores variance to normal levels. The alterations in variance provide a potential mechanistic link between clefting and the evolution and diversity of facial morphology. Overall, our findings suggest that CL/P can result from small gene-expression changes that alter the shape of the facial prominences and uncouple their coordinated morphogenesis, which is necessary for normal fusion.

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

    Directory of Open Access Journals (Sweden)

    Ghada H. Al-Kharboush

    2015-04-01

    Conclusions: Dental anomalies were common in Saudi subjects with CLP type. This will complicate the health care required for the CL/P subjects. This study was conducted to epidemiologically explore the prevalence of dental anomalies among Saudi Arabian subjects with CLP.

  14. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... health conditions > Cleft lip and cleft palate Cleft lip and cleft palate E-mail to a friend Please fill ... repair cleft lip and palate. What are cleft lip and cleft palate? Cleft lip is a birth defect in ...

  15. Three-dimensional imaging methods for quantitative analysis of facial soft tissues and skeletal morphology in patients with orofacial clefts: a systematic review.

    Directory of Open Access Journals (Sweden)

    Mette A R Kuijpers

    Full Text Available 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

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

    Science.gov (United States)

    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

  17. Children with repaired bilateral cleft lip/palate: effect of age at premaxillary osteotomy on facial growth.

    Science.gov (United States)

    Padwa, B L; Sonis, A; Bagheri, S; Mulliken, J B

    1999-10-01

    This study compared facial growth in three groups of patients with bilateral complete cleft lip/palate: those who had (1) no premaxillary osteotomy, (2) premaxillary osteotomy before age 8 years, and (3) premaxillary osteotomy after age 8 years. Of 24 children with bilateral complete cleft lip/palate, 7 had early premaxillary osteotomy (mean age, 6.1; range, 3.7 to 7.6 years), 10 had late osteotomy (mean age, 11.2; range, 8.3 to 20.7 years), and 7 did not require premaxillary repositioning and served as controls (mean age, 12.4; range, 6.4 to 17.8 years). Presurgical and postsurgical lateral cephalograms were digitized using the Dentofacial Planner software; most current lateral cephalograms comprised the control group. Forty-one bony and 25 soft-tissue landmarks were digitized, and 8 angles were measured: SNA, (sella-nasion-A point), SNPg (sella-nasion-pogonion), ANB (A point-nasion-B point), NAPg (nasion-A point-pogonion), ST convexity (glabella-subnasale-soft-tissue pogonion), Sn-G vertical (line perpendicular to the horizontal plane dropped from glabella and distance measured from subnasale to this vertical), Cm-Sn-Ls (columella-subnasale-abial superioris), and Sn-Gn-C (subnasale-soft-tissue gnathion-chin point). Statistical difference in mean preoperative and postoperative values were measured with analysis of variance. Tests of significance were adjusted for multiple comparisons using the Bonferroni correction. Mean age at follow-up for early, late, and control groups was 11.8, 14.0, and 12.4 years, respectively. Mean follow-up for early and late groups was 5.7 and 2.8 years. There was a significant preoperative difference among the three groups for mean SNA (p premaxillary positioning had more significant preoperative deformity; however, this group's postoperative profile was not, on average, significantly different from either the late or control groups. Our findings that the early group had more significant change with premaxillary osteotomy than the late

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

    Science.gov (United States)

    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)

  19. Mutations in Z8T824 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

    NARCIS (Netherlands)

    de Greef, Jessica C.; Wang, Jun; Balog, Judit; den Dunnen, Johan T.; Frants, Rune R.; Straasheijm, Kirsten R.; Aytekin, Caner; van der Burg, Mirjam; Duprez, Laurence; Ferster, Alina; Gennery, Andrew R.; Gimelli, Giorgio; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Smeets, Dominique F. C. M.; Sznajer, Yves; Wijmenga, Cisca; van Eggermond, Maria C.; van Ostaijen-ten Dam, Monique M.; Lankester, Arjan C.; van Tol, Maarten J. D.; van den Elsen, Peter J.; Weemaes, Corry M.; van der Maarel, Silvere M.

    2011-01-01

    Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICE) syndrome is mainly characterized by recurrent, often fatal, respiratory and gastrointestinal infections. About 50% of patients carry mutations in the DNA methyltransferase 3B gene (DNMT3B) (ICF1). The remaining

  20. Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

    Science.gov (United States)

    Brun, Marie-Elisabeth; Lana, Erica; Rivals, Isabelle; Lefranc, Gérard; Sarda, Pierre; Claustres, Mireille; Mégarbané, André; De Sario, Albertina

    2011-01-01

    Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In the present study, we have shown that, in ICF lymphoblasts and peripheral blood, juxtacentromeric heterochromatic genes undergo dramatic changes in DNA methylation, indicating that they are bona fide targets of the DNMT3B protein. DNA methylation in heterochromatic genes dropped from about 80% in normal cells to approximately 30% in ICF cells. Hypomethylation was observed in five ICF patients and was associated with activation of these silent genes. Although DNA hypomethylation occurred in all the analyzed heterochromatic genes and in all the ICF patients, gene expression was restricted to some genes, every patient having his own group of activated genes. Histone modifications were preserved in ICF patients. Heterochromatic genes were associated with histone modifications that are typical of inactive chromatin: they had low acetylation on H3 and H4 histones and were slightly enriched in H3K9Me3, both in ICF and controls. This was also the case for those heterochromatic genes that escaped silencing. This finding suggests that gene activation was not generalized to all the cells, but rather was restricted to a clonal cell population that may contribute to the phenotypic variability observed in ICF syndrome. A slight increase in H3K27 monomethylation was observed both in heterochromatin and active euchromatin in ICF patients; however, no correlation between this modification and activation of heterochromatic genes was found. PMID:21559330

  1. Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF syndrome.

    Directory of Open Access Journals (Sweden)

    Marie-Elisabeth Brun

    Full Text Available Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B gene, encoding a de novo DNA methyltransferase. In the present study, we have shown that, in ICF lymphoblasts and peripheral blood, juxtacentromeric heterochromatic genes undergo dramatic changes in DNA methylation, indicating that they are bona fide targets of the DNMT3B protein. DNA methylation in heterochromatic genes dropped from about 80% in normal cells to approximately 30% in ICF cells. Hypomethylation was observed in five ICF patients and was associated with activation of these silent genes. Although DNA hypomethylation occurred in all the analyzed heterochromatic genes and in all the ICF patients, gene expression was restricted to some genes, every patient having his own group of activated genes. Histone modifications were preserved in ICF patients. Heterochromatic genes were associated with histone modifications that are typical of inactive chromatin: they had low acetylation on H3 and H4 histones and were slightly enriched in H3K9Me(3, both in ICF and controls. This was also the case for those heterochromatic genes that escaped silencing. This finding suggests that gene activation was not generalized to all the cells, but rather was restricted to a clonal cell population that may contribute to the phenotypic variability observed in ICF syndrome. A slight increase in H3K27 monomethylation was observed both in heterochromatin and active euchromatin in ICF patients; however, no correlation between this modification and activation of heterochromatic genes was found.

  2. Laryngotracheoesophageal clefts.

    Science.gov (United States)

    Strychowsky, Julie E; Rahbar, Reza

    2016-06-01

    Laryngotracheoesophageal clefts are rare congenital anomalies of the aerodigestive tract. Patients may present with airway and/or swallowing impairments. An approach to evaluation and management is presented. Important pearls for conservative and surgical management are discussed. Open versus endoscopic surgical techniques are reviewed. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.

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    Astanand Jugessur

    Full Text Available BACKGROUND: Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. METHODOLOGY/PRINCIPAL FINDINGS: Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects. After data-cleaning, genotypes for 1315 SNPs in 334 autosomal genes were available for the current analysis of maternal gene effects. Two complementary statistical methods, TRIMM and HAPLIN, were used to detect multi-marker effects in population-based samples from Norway (562 case-parent and 592 control-parent triads and Denmark (235 case-parent triads. We analyzed isolated cleft lip with or without cleft palate (iCL/P and isolated cleft palate only (iCP separately and assessed replication by looking for genes detected in both populations by both methods. In iCL/P, neither TRIMM nor HAPLIN detected more genes than expected by chance alone; furthermore, the selected genes were not replicated across the two methods. In iCP, however, FLNB was identified by both methods in both populations. Although HIC1 and ZNF189 did not fully satisfy our stringency criterion for replication, they were strongly associated with iCP in TRIMM analyses of the Norwegian triads. CONCLUSION/SIGNIFICANCE: Except for FLNB, HIC1 and ZNF189, maternal genes did not appear to influence the risk of clefting in our data. This is consistent with recent epidemiological findings showing no apparent difference between mother-to-offspring and father-to-offspring recurrence of clefts in these two populations. It is likely that fetal genes make the major genetic contribution to clefting risk in these populations, but we cannot rule out the possibility that maternal genes can affect risk through interactions with specific teratogens or fetal genes.

  4. Dental findings in parents of children with cleft lip and palate.

    Science.gov (United States)

    Anderson, P J; Moss, A L

    1996-09-01

    The incidence of dental abnormalities in the cleft lip and palate population has been reported to be much higher than in the normal population. The role of genes in the production of a cleft lip and palate, and dental anomalies is thought to be complex, with autosomal dominant, recessive, and x-linked genes all playing a role. Noncleft parents can carry some of the cleft lip and palate genes, which produce clinically subtle manifestations in their facial skeleton. The purpose of this study was to look for evidence of increased dental anomalies in the non-cleft parents of cleft lip and palate children. The dentitions of the parents of 60 children with different types of cleft lip and palate were examined prospectively to see whether or not they exhibited features found more readily in the cleft lip and palate rather than did the normal population. Their dentitions were studied to record the following dental features: congenitally missing teeth, supernumerary teeth, or morphologic changes of the crowns of the permanent teeth. The number and position of any frenal attachments were also recorded. The results of this study did not show any differences in incidence of dental anomalies from the noncleft population. There was no evidence to support the hypothesis that congenital absence of lateral incisors is a microform of cleft lip and palate. Further, these results also failed to reveal any consistent pattern in the number and position of frenal attachments.

  5. Assessing the impact of nicotine dependence genes on the risk of facial clefts: An example of the use of national registry and biobank data

    Directory of Open Access Journals (Sweden)

    Astanand Jugessur

    2012-04-01

    Full Text Available Background: Maternal smoking during pregnancy has consistently been associated with risk of facial clefts in offspring, although these studies cannot establish causation. The association between maternal smoking and clefting risk may be caused by genes that influence nicotine dependence and other risk behaviors. Gamma-aminobutyric acid B receptor 2 (GABBR2, dopa decarboxylase (DDC, and cholinergic receptor nicotinic alpha 4 (CHRNA4 are three examples of genes that have previously shown strong associations with nicotine dependence. Methods: We used a population-based sample of 377 case-parent triads of cleft lip with or without cleft palate (CL/P and 762 control-parent triads from Norway (1996-2001 to investigate whether variants in GABBR2, DDC and CHRNA4 are associated with maternal first-trimester smoking and with clefting risk. We used HAPLIN (Gjessing et al. 2006, a statistical software tailored for family-based association tests, to perform haplotype-based analyses of 12 SNPs in these genes (rs10985765, rs1435252, rs3780422, rs2779562, and rs3750344 in GABBR2; rs2060762, rs3757472, rs1451371, rs3735273, and rs921451 in DDC; rs4522666 and rs1044393 in CHRNA4. Results: When analyzed one at a time, there was little evidence of association between any of the 12 SNPs and maternal first-trimester smoking. In haplotype analyses, however, one copy of the maternal G-G-c-G-c haplotype in DDC (SNP order as above was linked with smoking prevalence (odds ratio=1.5; 5% confidence interval: 1.0-2.1. This same haplotype also increased the risk of isolated CL/P in offspring by 1.5-fold with one copy and 2.4-fold with two copies (Ptrend=0.06. No statistically significant associations were detected with GABBR2 and CHRNA4. Conclusions: Despite strong associations previously reported between nicotine dependence and variants in GABBR2, DDC and CHRNA4, these genes were poor predictors of maternal first-trimester smoking in our data. The direct association of the

  6. Craniofacial anomalies in twins.

    Science.gov (United States)

    Keusch, C F; Mulliken, J B; Kaplan, L C

    1991-01-01

    Studies of twins provide insight into the relative contribution of genetic and environmental factors in the causality of structural anomalies. Thirty-five affected twin pairs were identified from a group of 1114 patients with congenital craniofacial deformities evaluated from 1972 to 1989. Forty-three of these 70 twins exhibited one or more craniofacial anomalies; these were analyzed for dysmorphic characteristics, zygosity, concordance, and family history. The anomalies were categorized into two groups: malformations and deformations. The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). The deformations (n = 7) included plagiocephaly (n = 5), hemifacial hypoplasia (n = 1), and micrognathia (n = 1). Twenty-one monozygotic and 14 dizygotic twin pairs were identified. The concordance rate was 33 percent for monozygotic twins and 7 percent for dizygotic twins.(ABSTRACT TRUNCATED AT 250 WORDS)

  7. Real -time 3D ultrasound prenatal diagnosisof the clinical significance of fetal typical facial cleft deformity%实时三维超声产前诊断胎儿典型面裂畸形的临床意义

    Institute of Scientific and Technical Information of China (English)

    龚海英; 李琴; 艾明义

    2012-01-01

    Objective; To determine the value of Real - time 3D ultrasound prenatal diagnosis of the clinical significance of fetal for typical facial cleft deformity Improving the diagnosticaccuracy of fetal cleft lipand/or palate cleft. Methods; Application of real - time three dimensional echocardiography prenatal fetal normal fetal cleft lip and palate cleft lip and palate parts of two - dimension control. Result; 10 cases of normal fetal lip display rates 100% , On alveolar show 100% , and palate, 70% (7/10) . 10 cases of fetal cleft lip and palate cleft lip includes 7 simple, merge hard on 1 case of cleft lip and palate and 1 cleft lip patients with cleft of soft palate. Real - time 3D diagnostic all 7 example simple cleft palates, diagnostic rate 100% . Diagnosis of unilateral cleft lip with cleft palate in 1 case. There are 1 case of unilateral cleft lip with cleft palate only diagnosis and missed diagnosis of cleft lip and cleft palate, diagnosed in 70% ( Seven - tenths). 1 cases of cleft lip with cleft of soft palate only soft diagnosis and missed diagnosis of cleft lip and cleft palate. Conclusions: Real - time three dimensional echocardiography prenatal diagnosis of fetal cleft lip, especially hard and alveolar process cleft lip with cleft palate diagnostic has a large value, but on the fetus are not merged alveolar cleft of the soft palate and some of the hard palate to make diagnosis and still has a great deal of difficulty.%目的 探讨实时三维超声产前诊断胎儿面裂畸形的临床意义,寻求提高胎儿唇腭裂诊断准确性的有效方法.方法 应用实时三维超声产前对面裂畸形;唇腭裂胎儿和正常胎儿唇腭部位的二维进行对照.结果 10例正常胎儿面部显示率100%,上牙槽突显示率100%,硬腭显示率70% (7/ 10).10例唇腭裂胎儿包括7例单纯唇裂,2例上唇裂合并硬腭裂和1例唇裂合并软腭裂.实时三维诊断了所有7例单纯唇裂,诊断率100%;诊

  8. Relationship between alveolar cleft bone grafting and facial skeletal growth%牙槽突裂植骨与颌骨生长发育的关系

    Institute of Scientific and Technical Information of China (English)

    韶青华; 陈振琦

    2013-01-01

      牙槽突裂植骨是唇腭裂患者序列治疗的重要组成部分。学者们在植骨时机的选择上存在分歧,主要分为一期植骨和二期植骨,原因在于不同时期植骨对颌骨生长发育的影响不同。本文分别从这两个植骨时机上阐述了其植骨来源以及植骨与颌骨生长发育的关系。%Bone grafting of alveolar cleft is an essential step in the sequential management of patients with clefts of lip, alveolus and palate. There is little agreement on the optimal time, which includes primary bone grafting and secondary bone grafting. This is caused by the effects of alveolar bone grafting in different times on facial skeletal growth. This article described the sources of bone graft as well as the relationship between bone grafting and facial skeletal growth from the two bone graft timing.

  9. Incidence of Cleft Lip and Palate in Uganda

    NARCIS (Netherlands)

    Dreise, Marieke; Galiwango, George; Hodges, Andrew

    Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented

  10. Incidence of Cleft Lip and Palate in Uganda

    NARCIS (Netherlands)

    Dreise, Marieke; Galiwango, George; Hodges, Andrew

    2011-01-01

    Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented i

  11. Incidence of Cleft Lip and Palate in Uganda

    NARCIS (Netherlands)

    Dreise, Marieke; Galiwango, George; Hodges, Andrew

    2011-01-01

    Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented i

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

    Science.gov (United States)

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

    2013-04-01

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

  13. Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

    Science.gov (United States)

    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…

  14. Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

    Science.gov (United States)

    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…

  15. Anomalies.

    Science.gov (United States)

    Online-Offline, 1999

    1999-01-01

    This theme issue on anomalies includes Web sites, CD-ROMs and software, videos, books, and additional resources for elementary and junior high school students. Pertinent activities are suggested, and sidebars discuss UFOs, animal anomalies, and anomalies from nature; and resources covering unexplained phenonmenas like crop circles, Easter Island,…

  16. Craniofacial clefting and sutural dystopia.

    Science.gov (United States)

    Moore, M H; Edwards, T J; David, D J

    1991-07-01

    Sutural anomalies in conjunction with craniofacial clefting are unusual. A case of median frontal clefting is presented in which there was an absence of a normal metopic suture and replacement by paramedian frontal sutures. The association of an underlying brain anomaly, with attendant surgical difficulties, is noted, as are the radiological techniques of preoperative diagnosis.

  17. Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43.

    Science.gov (United States)

    Amano, K; Ishiguchi, M; Aikawa, T; Kimata, M; Kishi, N; Fujimaki, T; Murakami, A; Kogo, M

    2012-07-01

    Oculodentodigital Dysplasia (ODDD) is a rare syndrome involving anomalies in eye, tooth, and digit formation, caused by mutations in CX43/GJA1. In addition to classic dental features, ODDD includes oral and craniofacial accessory symptoms such as characteristic facial appearance and cleft palate. However, there have been no reports of ODDD accompanied by cleft lip. Herein we report, for the first time, a male, sporadic, Asian proband presenting bilateral cleft lip. By direct sequence analysis, our proband was diagnosed as having ODDD with a heterozygous mutation, codon 142 G>A in GJA1 and CX43E48K. We excluded the possibility of pathogenic mutations in B3GALTL, BMP4, TFAP2A, PVRL1, IRF6, and MSX1. To address how CX43/GJA1 is related to cleft lip, we performed immunohistochemistry using mouse and human mid-facial tissue. CX43 expression was detected in the nasal compartment and nasal and maxillary processes at murine developmental stage E12.5. Furthermore, CX43 expression was found in the epithelial tissue inside the human subepithelial cleft lip that completes epithelial fusion. Therefore, we suggest that CX43/GJA1 is involved in lip formation. Our case report of ODDD with a bilateral cleft lip suggests that CX43/GJA1 might be a novel candidate gene for syndromic cleft lip.

  18. International confederation for cleft lip and palate and related craniofacial anomalies task force report: palatoplasty in the speaking individual with unrepaired cleft palate.

    Science.gov (United States)

    Sommerlad, Brian C

    2014-11-01

    Introduction : The benefits or otherwise of late palate repair in older children or adults are uncertain. The outcomes, particularly without appropriate speech therapy, are often disappointing. The issue is of special importance in the poorer countries where these patients are most commonly seen and where limited capacity and facilities may have to be rationed. Method : A task force was set up to report back to the International Congress in Orlando in May 2013. The chairman and some members were nominated by the organizers and further members were added during the discussion process. Some of the members had considerable experience of late palate repair. The task force compiled a report after 9 months of e-mail correspondence. The report includes reports of some previously unpublished studies. A summary of the report was presented at Cleft 2013 in Orlando. Conclusions : There was a general consensus that late palate repair is of benefit for many patients and that, even if normal speech is not attained, outcomes are positive. Outcomes depend on the age of the patient (the younger the better), on the skill of the surgeon and, ideally, on the availability of appropriate speech therapy. A protocol for a prospective international multi-center study is proposed.

  19. A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12.

    Science.gov (United States)

    Christensen, R D; Yaish, H M

    2012-03-01

    We observed a neonate with cleft lip and palate, 13 sets of ribs, agenesis of the corpus callosum, slightly small penis, hypoglycemia, and what initially appeared to be a marked leukocyte 'left shift' on complete blood count, but which was actually a Pelger-Huët anomaly. A chromosomal microdeletion was identified at1q41-42.12.

  20. Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.

    Science.gov (United States)

    Alvarez, Camila Wenceslau; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio

    2014-12-01

    Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  1. Molecular basis of cleft palates in mice

    Institute of Scientific and Technical Information of China (English)

    Noriko; Funato; Masataka; Nakamura; Hiromi; Yanagisawa

    2015-01-01

    Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis.

  2. How various surgical protocols of the unilateral cleft lip and palate influence the facial growth and possible orthodontic problems? Which is the best timing of lip, palate and alveolus repair? literature review.

    Science.gov (United States)

    Farronato, Giampietro; Kairyte, Laima; Giannini, Lucia; Galbiati, Guido; Maspero, Cinzia

    2014-01-01

    OBJECTIVES. Cleft lip palate is congenital growth disease with unknown etiology, probably linked to both genetically and external causes. The aim of this work consists in presenting the effects of these diseases on cranio facial growth and the surgical protocols described in literature. MATERIALS AND METHODS. The literature review articles conducted by Medline ranged from 1998 to 2011 have been selected. The key words of the research were "cleft lip palate", "cleft lip palate facial growth", "cleft lip palate surgery". The inclusion criteria were articles that analyzed surgical protocols and the growth of unilateral lip and palate clefts, the timing repair of lip, palate and alveolus. We excluded case reports, studies without control group in the sample and the other types of publication as thesis or conference presentation. 60 articles had the selection criteria of the research. RESULTS. The cleft lip and palate is one of the most common birth defects that needs long rehabilitation between birth and adulthood. Several authors have presented surgical protocols and timing. The effects of these diseases on cranio facial growth and the importance of the early intervention have been described. CONCLUSIONS. The review describes the main surgical protocols and treatment strategies of the unilateral lip and palate clefts. The review discusses how surgery effects the midfacial skeletal growth. Studies agree that the palate repair is the main cause of the maxilla growth disturbances. About the timing of palate repair in the unilateral clefts it can be concluded that most studies found no difference between one or two stages palate repair techniques for the midfacial growth. Also from the research, studies agree that delayed hard palate repair has more positive effects on maxillary growth than that of early hard palate repair. Nevertheless good results, delayed hard palate repair technique is abandoned by many hospital centres because of worse speech outcome. The best

  3. Acro-cardio-facial syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2010-09-01

    Full Text Available Abstract Acro-cardio-facial syndrome (ACFS is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM, facial anomalies, cleft lip/palate, congenital heart defect (CHD, genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been reported. The diagnosis is based on clinical criteria, since the genetic mechanism underlying ACFS is still unknown. The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease's recurrence in sibs in some families. The more appropriate recurrence risk of transmitting the disease for the parents of an affected child seems to be up to one in four. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor.

  4. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

    Science.gov (United States)

    Castori, Marco; Pascolini, Giulia; Parisi, Valentina; Sana, Maria Elena; Novelli, Antonio; Nürnberg, Peter; Iascone, Maria; Grammatico, Paola

    2015-04-01

    In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition.

  5. Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly.

    Science.gov (United States)

    Feng, Aiping; Dai, Xiaohua; Wang, Xiaoran; Gao, Yong; Luo, Ruili; Li, Yulei; Zhang, Na; Liu, Jingyu

    2011-08-01

    Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age. Many chromosomal diseases come with mental retardation. We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy, clinical features of mental retardation and mild facial and pinkie anomalies. In the family 1, we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis. Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171, an interval of about 2.9 Mb on 9p21.3, and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446, a region of about 1.5 Mb on 21q22.3. In the family 2, a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter, and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother. Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33. Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family. These results further implicate that trisomy 9p is associated with mental retardation, and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly. This result has been applied successfully in prenatal diagnosis of the second family.

  6. Apparently previously undescribed X-linked dominant syndrome with facial and skeletal anomalies.

    Science.gov (United States)

    Kapur, S; Swinford, A; Freimanis, A K; Lachman, R S

    1989-07-01

    We report on a syndrome of widow's peak, ptosis, skeletal abnormalities and other minor anomalies in a large family. The condition appears to be inherited in an X-linked dominant fashion. No similar cases have been found in the literature, suggesting that this is a "new" syndrome. Study of 5 generations of the family documents information on the natural history of the condition.

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

    Science.gov (United States)

    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 lip and/or palate in two cases of 46,X,i(Xq) Turner syndrome.

    Science.gov (United States)

    Corona-Rivera, J R; Corona-Rivera, E; Bobadilla-Morales, L; Garcia-Cobia, T A; Corona-Rivera, A

    2002-01-01

    Cleft lip (CL) and/or palate (CP) are uncommon anomalies in Turner syndrome (TS) series. We report two unrelated sporadic 46,X,i(Xq) patients exhibiting orofacial clefts and a peculiar facial appearance masking the clinical diagnosis. CL, and CP in case 1 and CP in case 2, though non-specific of TS, may not be fortuitous findings. The increased frequency of CP and bifid uvula in poly X syndromes, the dermatoglyphic similarities between iXq TS and X polysomies, and the occurrence of Klinefelter phenotype when extra Xq material is present in a male, are all indirect evidences suggesting that Xq material cannot be considered phenotipically inert and facial clefts found in our patients may be syndromal manifestation of trisomic Xq dosage.

  9. Progress of study on detection and analysis methods of voice anomaly in patients with cleft lip and palate%唇腭裂患者的语音异常检测及分析方法研究进展

    Institute of Scientific and Technical Information of China (English)

    秦世玉; 李冬爽(综述); 孙晋虎(审校)

    2014-01-01

    Congenital cleft lip and palate will cause abnormal voice function of patients .The research of de-tection and analysis method of voice anomaly helps the correction of voice function .This article will review the recent detection and analysis methods of voice anomaly in patients with cleft lip and palate .%先天性唇腭裂会造成患者语音功能异常,唇腭裂患者语音异常检测及分析方法的研究有助于对语音功能的矫正。该文就近期对唇腭裂患者语音检测及分析的方法作一综述。

  10. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

    2001-01-01

    A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

  11. Demographics of orofacial clefts in Canada from 2002 to 2008.

    Science.gov (United States)

    Pavri, Sabrina; Forrest, Christopher R

    2013-03-01

    Objective : Orofacial clefts such as cleft lip, cleft palate, and cleft lip and palate are the most frequent congenital anomalies of the head and neck. The purpose of this study was to determine the current demographics for orofacial clefts in Canada. Methods : A request for data from all Canadian provinces (excluding Quebec due to incompatibilities with provincial coding systems) for the fiscal years 2002-2003 to 2007-2008 was submitted to the Canadian Institute for Health Information. Variables evaluated included gender, cleft type, gestational age, birth weight, income quintile, and institution health region. Results : Over the period studied, the prevalence of orofacial clefts ranged from 11.0 to 15.3 per 10,000 live births (1 in 654 to 1 in 909 live births). The distribution of cleft types for live births with orofacial clefts was 17% for cleft lip, 41% for cleft palate, and 42% for cleft lip and palate, of which cleft lip and cleft lip and palate were male dominant (62% and 66% male, respectively) and cleft palate was female dominant (56% female). Saskatchewan and Manitoba had significantly higher cleft birthrates (P orofacial clefting compared with those with no cleft. Conclusions : Canada has one of the highest orofacial cleft birthrates in the world (prevalence of 12.7 per 10,000 live births, approximately 1 in 790 live births). This study presents an updated demographic of orofacial clefts in Canadian newborns and may be useful in predicting the burden of anticipated health care.

  12. Risk of Oral Clefts in Twins

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Petersen, Inge

    2011-01-01

    BACKGROUND:: Small studies have indicated that twinning increases the risk of oral cleft. METHODS:: We used data from a Danish national population-based cohort study to investigate whether twinning was associated with isolated oral cleft, and to estimate the twin probandwise concordance rate...... and heritability. Twins (207 affected/130,710) and singletons (7766 affected/4,798,526) born from 1936 through 2004 in Denmark were ascertained by linkage among the Danish Facial Cleft Database, the Danish Twin Registry, and the Civil Registration System. We computed oral cleft prevalence and prevalence proportion...... ratio for twins versus singletons, stratified for 3 subphenotypes. Probandwise concordance rates and heritability for twins were estimated for 2 phenotypes-cleft lip with or without cleft palate (CL/P) and cleft palate (CP). RESULTS:: The prevalence of oral cleft was 15.8 per 10,000 twins and 16.6 per...

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

    Science.gov (United States)

    Hortis-Dzierzbicka, M A

    1999-01-01

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

  14. An Otorhinological study of patients with cleft lip and palate

    OpenAIRE

    Bariar, L. M.; Ahmad, Imran; Sharma, S. C.

    2001-01-01

    32 patients of cleft palate with or without cleft lip were subjected to otorhinological study from January 1998 to September 2000, with special attention to the rhinological anomalies, ear pathology, any deafness, discharge or any other findings relevant to the middle ear. Hearing loss and ear changes were not seen in any patient with cleft lip alone, hence these patients were not included in this study. These changes were confined to the patients with cleft palate only, with or without cleft...

  15. Effects of a child with a craniofacial anomaly on stability of the parental relationship.

    Science.gov (United States)

    St John, Dane; Pai, Lori; Belfer, Myron L; Mulliken, John B

    2003-09-01

    The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly contributed to divorce, and involvement in the child's welfare. Using deformational posterior plagiocephaly as a control group, rates of divorce vs. non-divorce were compared for craniofacial anomalies, categorized as asymmetric (hemifacial microsomia, unilateral coronal synostosis, cleft lip, cleft lip/palate) or symmetric (syndromic-craniosynostosis, orbital hypertelorism, Treacher Collins syndrome). Major anomalies (hemifacial microsomia, craniosynostosis, orbital hypertelorism, Treacher Collins syndrome) were also compared to minor anomalies (cleft lip, cleft lip/palate). Surveys were sent to both parents in 412 families; 403 surveys were returned; and the results were evaluated in 275 families (67%). Frequency analysis demonstrated an overall divorce rate of 6.8% and 4.9% separation. Anomalies associated with the highest rate of divorce were hemifacial microsomia (24.0%), syndromic craniosynostosis (12.2%), and cleft lip/palate (6.8%). 79% of non-divorced couples reported a strong prenatal relationship, whereas 59% of divorced couples reported a problematic relationship. Following birth of the affected child, 47% of non-divorced couples responded that the bonds became stronger and 41% of divorced couples thought the relationship worsened. Two-sided Fisher exact test comparing control vs. all other anomalies showed significance (p=.030) for rates of divorce. Separation of anomalies into asymmetric vs. symmetric and major vs. minor categories demonstrated no significant difference in divorce rate (p>.05). The mother was more likely to become a child's primary caregiver

  16. Branchial cleft cyst

    Directory of Open Access Journals (Sweden)

    Vaishali Nahata

    2016-01-01

    Full Text Available 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.

  17. Severe craniofacial sclerosis with multiple anomalies in a boy and his mother

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, G.; Friedman, J.M.

    1986-09-01

    A boy is described with severe hyperostosis of the cranium and facial bones, and many other abnormalities including macrocephaly, abnormal facies, cleft palate, conductive hearing loss, speech defect, dental and digital anomalies, delayed skeletal development, short fibulas, short stature of postnatal onset, cervical kyphosis, and progressive lumbar lordosis. His mother exhibited craniofacial sclerosis, similar dental defects, and mild osteopathia striata without other abnormalities. This family may represent a previously undescribed inherited syndrome with cranial sclerosis.

  18. An assessment of orofacial clefts in Tanzania

    Directory of Open Access Journals (Sweden)

    Mazyala Erick

    2011-02-01

    Full Text Available Abstract Background Clefts of the lip (CL, the palate (CP, or both (CLP are the most common orofacial congenital malformations found among live births, accounting for 65% of all head and neck anomalies. The frequency and pattern of orofacial clefts in different parts of the world and among different human groups varies widely. Generally, populations of Asian or Native American origin have the highest prevalence, while Caucasian populations show intermediate prevalence and African populations the lowest. To date, little is known regarding the epidemiology and pattern of orofacial clefts in Tanzania. Methods A retrospective descriptive study was conducted at Bugando Medical Centre to identify all children with orofacial clefts that attended or were treated during a period of five years. Cleft lip and/or palate records were obtained from patient files in the Hospital's Departments of Surgery, Paediatrics and medical records. Age at presentation, sex, region of origin, type and laterality of the cleft were recorded. In addition, presence of associated congenital anomalies or syndromes was recorded. Results A total of 240 orofacial cleft cases were seen during this period. Isolated cleft lip was the most common cleft type followed closely by cleft lip and palate (CLP. This is a departure from the pattern of clefting reported for Caucasian and Asian populations, where CLP or isolated cleft palate is the most common type. The distribution of clefts by side showed a statistically significant preponderance of the left side (43.7% (χ2 = 92.4, p Conclusions Unilateral orofacial clefts were significantly more common than bilateral clefts; with the left side being the most common affected side. Most of the other findings did not show marked differences with orofacial cleft distributions in other African populations.

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

    Science.gov (United States)

    Nagappan, N; John, Joseph

    2015-03-01

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

  20. Surgical correction of cleft lip and palate.

    Science.gov (United States)

    Jayaram, Rahul; Huppa, Christoph

    2012-01-01

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

  1. Cleft lip and palate: successful management trends

    OpenAIRE

    Bedon Rodriguez, Monica; universidad de manizales; Villota Gonzales, Luis Gerardo; Univerdidad de Manizales

    2011-01-01

    Cleft and palate is one of the most common congenital malformations, represents 2 - 3 % of these and is considered the most common craniofacial anomaly. Surgical repairof a patient with a cleft lip is not an emergency. Primary repair of cleft lip is done about 3 months old, consisting of a series of elective surgeries that are performed individualizingeach case as required by the patient. The aim of this review is to address the innovative treatment alternatives that are beingused in patients...

  2. Face facts: Genes, environment, and clefts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, J.C. [Univ. of Iowa, Iowa City IA (United States)

    1995-08-01

    Cleft lip and/or palate provides an ideal, albeit complex, model for the study of human developmental anomalies. Clefting disorders show a mix of well-defined syndromic causes (many with single-gene or environmental etiologies) coupled with their more common presentation in the nonsyndromic form. This summary presents some insight into the genetic causes of, etiology of and animal models for cleft lip and/or palate. 79 refs.

  3. Fordyce Happiness Program and Happiness in Mothers of Children with a Cleft Lip and Palate

    Science.gov (United States)

    Hemati, Zeinab; Mosavi Asl, Fatemeh-Sadat; Abbasi, Samira; Ghazavi, Zohre; Kiani, Davood

    2016-01-01

    Introduction: Facial deformities and aesthetic and functional anomalies in children may be a cause of real distress in families. Problems faced by parents in coping with a child’s anomaly can be upsetting and lead parents to exhibit over-severe behavior. The present study was conducted in order to study the effect of happiness program on the happiness of the mothers of children with a cleft lip and palate. Materials and Methods: In this semi-experimental study, 64 mothers of children with a cleft lip and palate enrolled by convenience random sampling were assigned to an intervention or control group based on a simple random sampling. Then, a program of happiness training was implemented consisting of 10 sessions of 2 hours each. A demographic questionnaire and the Oxford Happiness Questionnaire were completed prior to and 2 months after the last session of intervention. The data were analyzed using descriptive and analytical statistics, consisting of a paired t-test, independent t-test and Chi-square test using SPSS version 20. Results: The independent t-test indicated a significant difference in mean happiness score after training between the intervention and control groups (P0.05). Conclusion: In light of the efficacy of happiness training on the promotion of happiness in the mothers of children with a cleft lip and palate, this model is recommended as a healthcare intervention to decrease stress in mothers following the birth of an infant with a cleft lip and palate. PMID:28008390

  4. Associated anomalies in cases with anotia and microtia.

    Science.gov (United States)

    Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

    2016-12-01

    Infants with anotia and microtia (AM) often have other non-AM associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in infants with AM were collected in all livebirths, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 146 cases with AM registered during this period, representing a prevalence of 3.77 per 10,000, 49.3% had associated anomalies. There were 14 (9.6%) cases with chromosomal abnormalities including 5 trisomies 18, and 18 (12.3%) nonchromosomal recognized dysmorphic conditions including 6 cases with oculo-auriculo-vertebral spectrum. However, numerous other recognized dysmorphic conditions were registered. Forty (27.4%) of the cases had multiple congenital anomalies (MCA). Anomalies especially in the cardiovascular, the musculoskeletal, the urogenital, the central nervous, and the digestive systems, and facial clefts were the most common other anomalies. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was one in every two cases, emphasizes the need for a thorough investigation of cases with AM. A routine screening for other anomalies may be considered in infants and in fetuses with AM.

  5. Cleft Lip and Palate

    Science.gov (United States)

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

  6. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP Part 4: Oral Rehabilitation

    Directory of Open Access Journals (Sweden)

    Jose Alberto de Souza FREITAS

    2013-06-01

    Full Text Available Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients.

  7. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: oral rehabilitation.

    Science.gov (United States)

    Freitas, José Alberto de Souza; Almeida, Ana Lúcia Pompéia Fraga de; Soares, Simone; Neves, Lucimara Teixeira das; Garib, Daniela Gamba; Trindade-Suedam, Ivy Kiemle; Yaedú, Renato Yassutaka Faria; Lauris, Rita de Cássia Moura Carvalho; Oliveira, Thais Marchini; Pinto, João Henrique Nogueira

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients.

  8. Management of cleft lip and palate in adults

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2009-10-01

    Full Text Available Introduction: With advancement of medical services in developed countries and awareness among the patients, it is rare to find an adult with an unoperated cleft lip and palate. However, the scenario is totally different in developing countries. Working as a part of a team in developing country, where co-coordinated team work is primitive, resources to provide treatment are very thin, public awareness of availability of treatment for this anomaly is minimal, the age of patients reaching for primary treatment varies from few days to late forties. Though the aim and aspiration is to provide holistic multidisciplinary care, the priority is getting treatment for all cleft patients. In such situation, the management of cleft lip and palate demands changes of approach, techniques and philosophy. Aims and Objectives: The deformed anatomy especially the facial bones and dentition is described. Due to well established deformities, the approach for management is individualized. The procedures and modification of procedures has been described. Results and Outcome: The outcome of the primary repair is adults certainly have less than satisfactory outcome for obvious reasons. The expected outcome and expectation of patients and families following primary surgeries in cleft lip and palate has been discussed. Though all adult patients got some improvement in speech after palate repair, achieving normal speech was difficult. The naso-labial appearance was not perfect, but well accepted by the patients and families. There are many psychosocial problems in these patients, the objective evaluation could not be done due to too many variables. However, primary repair of cleft lip and palate is justified and beneficial for the patients.

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

    Science.gov (United States)

    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.

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

    NARCIS (Netherlands)

    Kuijpers, M.A.R.; Chiu, Y.T.; Nada, R.M.; Carels, C.E.L.; Fudalej, P.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

  11. SURGICAL METHODS OF CLEFT LIP, CLEFT PALATE AND COMBINED CLEFT LIP WITH CLEFT PALATE - OUR EXPERIENCE

    OpenAIRE

    Polisetti Ravi; Durga Prasad; Soumya; Krishna Sasanka

    2015-01-01

    INTRODUCTION Cleft lip and cleft palate is the most common congenital malformation of the face and its pattern varies with geography world wide. This study was done in 67 patients presenting to Department of ENT, Santhiram Medical College, Nandyal with cleft deformities to assess the surgical outcome of cleft lip, cleft palate and combined cleft lip cleft palate cases.

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

    Directory of Open Access Journals (Sweden)

    shahin abdollahi fakhim

    2014-10-01

    Full Text Available 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.

  13. Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears.

    NARCIS (Netherlands)

    Thomeer, H.G.; Kunst, H.P.; Verbist, B.M.; Cremers, C.W.R.J.

    2012-01-01

    OBJECTIVES: To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. STUDY DESIGN: Retrospective chart study.

  14. TAR syndrome with orofacial clefting.

    Science.gov (United States)

    Midro, A; Hubert, E; Preferansow, J; Iwaszkiewicz-Pawłowska, A

    1993-01-01

    A case of TAR syndrome with bilateral cleft lip and palate is presented. Bilateral symmetric focomelia, normal thumbs among five fingers of hands, synostosis of IVth and Vth metacarpal bones and some defects of lower limbs with associated thrombocytopenia were noted. Dysmorphic facial features included hypertelorism, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, sparse blond hair. To our knowledge this patient represents an unusual association of TAR syndrome with orofacial clefting. A common background of TAR and Roberts/SC syndrome is suggested.

  15. 罕见面裂“双侧面斜裂、唇腭裂”的临床治疗%Clinical Tretment of Rare Facial Cleft "Bilateral Prosopoanoschisis, Complete Bilateral Cleft Lip and Palate".

    Institute of Scientific and Technical Information of China (English)

    周晓敏; 郑苍尚

    2011-01-01

    目的:介绍本病例的特殊性及治疗该病例的方法.方法:采用多Z形瓣切开缝合术整复面斜裂,恢复正常的面部轮廓,腭裂采用两大瓣法整复关闭裂隙.结果:外形大为改善,患者很满意.结论:本病例为罕见病例,治疗重在面容及功能的恢复.%Objective: To introduce speciality and treatment method of one case of bilateral prosopoanoschisis, complete bilateral cleft lip and palate. Methods: We used multi - Z- plasty to resume the normal lineament, used two flaps to cure cleft palate and close the gap. Results: The face changed a lot and plastic effect was satisfactory. Conclusion: The case is rare and it is importment to resume the normal face and function of the patient.

  16. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

    NARCIS (Netherlands)

    Lugtenberg, D.; Brouwer, A.P.M. de; Oudakker, A.R.; Pfundt, R.P.; Hamel, B.C.J.; Bokhoven, H. van; Bongers, E.M.H.F.

    2009-01-01

    In a man with severe mental retardation, minor facial and genital anomalies, disproportionate short stature and a broad thorax, we identified a de novo Xq13.2q21.1 duplication by array CGH. This 7 Mb duplication encompasses 23 known genes, including the X-linked mental retardation (XLMR) genes ATRX

  17. Median cleft of the upper lip: A new classification to guide treatment decisions.

    Science.gov (United States)

    de Boutray, Marie; Beziat, Jean-Luc; Yachouh, Jacques; Bigorre, Michèle; Gleizal, Arnaud; Captier, Guillaume

    2016-06-01

    Median cleft of the upper lip (MCL) is a specific and rare entity on the spectrum of facial clefts. MCL have different clinical expressions and can be either isolated or part of multiple malformations. Confusion still exists regarding the explanation and classification of MCL; some cases have been reported in the literature, but no studies carried out a complete review of the literature. This study reviewed cases of MCL in 2 French units and conducted a systematic review of the literature, in order to derive a new classification. Fourteen patients with MCL in the 2 units and 195 cases in the literature were reviewed. They involved complete (42%), incomplete (49%), and minor forms (9%). Epidemiological and clinical data were collected, from which a classification was derived, based on the type of cleft and its belonging to other syndrome(s). Three main groups were distinguished, namely, isolated MCL, MCL within craniofacial malformations, and MCL with extrafacial malformations. Each group and subgroup was associated with a prognosis and led to specific management. This study reviewed all of the various forms of MCL and their associated anomalies, in order to have a global view of MCL and to derive a useful classification scheme to guide management of care. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  18. Clinical outcomes of primary palatoplasty in pre-school-aged cleft palate children in Srinagarind hospital: quality of life.

    Science.gov (United States)

    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

  19. Prevalence of orofacial clefts in Korean live births.

    Science.gov (United States)

    Lee, Chung Won; Hwang, Sun Mi; Lee, You Sun; Kim, Min-A; Seo, Kyung

    2015-05-01

    The aim of this study was to investigate the prevalence of orofacial clefts and identify the characteristics of other birth defects associated with orofacial clefts in Korea. This study used data from the Congenital Anomaly Survey conducted by the Korea Institute for Health and Social Affairs. The survey was conducted on birth defects documented during 2005 to 2006 in 2,348 medical institutes in Korea. This study was performed using data from medical insurance claims of the National Health Insurance Corporation. The prevalence of orofacial clefts was defined as the number of cases per 10,000 live births. Among the 883,184 live births, 25,335 infants had birth defects, which included 980 infants with orofacial clefts. The prevalence of total orofacial clefts in the total live births was 11.09 per 10,000, accounting for 3.9% of all birth defects. The most common orofacial cleft was cleft palate only (n=492), followed by cleft lip only (n=245) and cleft lip with cleft palate (n=243), with prevalence rates of 5.57, 2.77, 2.75 per 10,000 live births, respectively. While malformations of the circulatory system; digestive system; eyes, ears, face, and neck; and musculoskeletal system were most frequently encountered among infants with a cleft lip with or without a cleft palate, anomalies of most organ systems were notably observed among infants with cleft palate only. The prevalence of orofacial clefts in Korea was similar or slightly lower than that of other countries. This study informs present status of orofacial clefts and gives baseline data to lay the foundation stone for Korea's registry system of orofacial clefts.

  20. Preferential Associated Anomalies in 818 Cases of Microtia in South America

    Science.gov (United States)

    Luquetti, Daniela V; Cox, Timothy C; Lopez-Camelo, Jorge; Dutra, Maria da Graça; Cunningham, Michael L; Castilla, Eduardo E

    2013-01-01

    The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia. PMID:23554119

  1. Preferential associated anomalies in 818 cases of microtia in South America.

    Science.gov (United States)

    Luquetti, Daniela V; Cox, Timothy C; Lopez-Camelo, Jorge; Dutra, Maria da Graça; Cunningham, Michael L; Castilla, Eduardo E

    2013-05-01

    The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.

  2. Facts about Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... Information For... Media Policy Makers Facts about Cleft Lip and Cleft Palate Language: English Español (Spanish) Recommend on Facebook ... commonly are called “orofacial clefts”. What is Cleft Lip? The lip forms between the fourth and seventh ...

  3. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Nahvi H.

    2007-09-01

    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

  4. The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate.

    Science.gov (United States)

    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.

  5. Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.

    Science.gov (United States)

    Temtamy, Samia A; Ismail, Samira; Nemat, Amany

    2003-04-01

    Cenani-Lenz syndrome (CLS; MIM 212780) is a rare autosomal recessive syndactyly/synostosis syndrome. No facial dysmorphism was previously noted. We studied two families; in the first an affected female had a previously affected brother and her father was said to have been similarly affected. Extensive inbreeding in this family suggests quasidominant inheritance. In the second family there was a history of a similarly affected sib who, in addition, had genital anomalies and cleft palate. The parents were first cousins. Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. The present report suggests mild facial dysmorphism and quasidominant inheritance in one family with Cenani-Lenz syndrome.

  6. A STUDY OF CRANIOFACIAL CONGENITAL ANOMALIES IN THE MALWA REGION (MADHYA PRADESH

    Directory of Open Access Journals (Sweden)

    Seema

    2016-02-01

    Full Text Available Development of foetus is a complex chain of events, millions of factors affect it. The rapid decline in the infant mortality & morbidity in the developed countries has focused the attention of pediatricians on the problems of congenital malformations. It is impossible to know all the factors at this juncture. But so far we have come to know some factors responsible for these congenital malformations. A study was done to detect various craniofacial congenital anomalies in Malwa region (M.P. with the aim to know various etiological factors and to emphasize importance of early treatment to prevent disfigurement and functional defects; 120 patients with craniofacial congenital anomalies attending government and private hospitals of the Indore city during the period of 01/06/2009 to 31/12/2010 were taken for the study. These patients were examined for different craniofacial congenital anomalies. A detailed history and examination was carried out to evaluate relationship of sex, religion, socioeconomic status, environmental factors, maternal age, parity, occupation of parents with various craniofacial anomalies. We detected various craniofacial congenital anomalies ranging from cleft lip and palate, ear deformities, macrostoma, nose deformities, ptosis, facial nerve paralysis and vascular malformations. Most common anomaly was cleft lip and palate followed by haemangioma, hairy naevus, ear deformities and ptosis. These anomalies were significantly high in children belonging to low socioeconomic group. Exposure of pregnant mothers to agricultural chemicals and smoking were other significant factors. This study also shows that incidence of cleft lip and palate was relatively high in children who were born to mothers having age less than 20 years.

  7. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis.

    Science.gov (United States)

    Fosko, S W; Stenn, K S; Bolognia, J L

    1992-08-01

    Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate). The clinical characteristics of these entities as well as several less common syndromes are reviewed and summarized. The presence of scalp dermatitis in patients with the AEC syndrome and less often the Rapp-Hodgkin syndrome is emphasized.

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

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

    Full Text Available 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.

  9. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... help you find community and financial resources and education. For your child You can support your child in many ways: Focus on your child as a person, not on the cleft. Point out positive qualities in others that don't involve physical ...

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

    Science.gov (United States)

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

    2017-08-01

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

  11. Dental Decay Phenotype in Nonsyndromic Orofacial Clefting.

    Science.gov (United States)

    Howe, B J; Cooper, M E; Wehby, G L; Resick, J M; Nidey, N L; Valencia-Ramirez, L C; Lopez-Palacio, A M; Rivera, D; Vieira, A R; Weinberg, S M; Marazita, M L; Moreno Uribe, L M

    2017-09-01

    Although children with oral clefts have a higher risk for dental anomalies when compared with the general population, prior studies have shown conflicting results regarding their dental decay risk. Also, few studies have assessed dental decay risk in unaffected relatives of children with clefts. Thus, the question of increased risk of dental decay in individuals with oral clefts or their unaffected relatives is still open for empirical investigation. This study characterizes dental decay in the largest international cohort to date of children with nonsyndromic clefts and their relatives, as compared with controls, and it addresses whether families with oral clefts have a significantly increased risk for dental decay versus the general population. A total of 3,326 subjects were included: 639 case probands, 1,549 unaffected relatives, and 1,138 controls. Decay was identified from in-person dental examinations or intraoral photographs. Case-control differences were tested with regression analysis. No significant differences were shown in percentage decayed and filled teeth and decayed teeth in the primary dentition (dft, dt) and permanent dentition (DFT, DT) in cases versus controls. In the cleft region, no significant differences were seen in primary or permanent decay (dt, DT) when compared with controls. No difference was found with regard to cleft type and percentage dft, dt, DFT, and DT in case probands. Nonsignificant differences were found in unaffected siblings and parents versus controls (primary and permanent dentitions). Collectively, these findings indicate that individuals with nonsyndromic oral clefts and their families do not have a higher dental decay risk as compared with the general population. These results suggest that either genetic or environmental factors underlying a higher susceptibility for dental anomalies do not increase caries risk or that the seemingly higher risk for dental decay associated with increased dental anomalies in case

  12. Epidemiology of orofacial clefts in the East of ireland in the 25-year period 1984-2008.

    Science.gov (United States)

    McDonnell, Robert; Owens, Miriam; Delany, Caroline; Earley, Michael; McGillivary, Anne; Orr, David J; Duggan, Laura

    2014-07-01

    Objective : To describe the epidemiology of orofacial clefts in the east of Ireland. Design and Setting : A descriptive epidemiologic study on 851 cases of orofacial cleft identified over a 25-year period from 1984 to 2008 from more than 500,000 births. Results : There were 438 (51.5%) cases of cleft lip with or without cleft palate and 413 (48.5%) cases of cleft palate. The total birth prevalence was 16.0 per 10,000 births for all orofacial clefts, 8.2 for cleft lip with or without cleft palate, and 7.8 for cleft palate. Of all cases, 63.7% (542/851) occurred as isolated anomalies, 21.5% (183/851) were associated with multiple anomalies, and 14.8% (126/851) were associated with a syndrome or chromosomal anomaly. A significantly increasing trend over the 25-year period was observed for cleft lip with or without cleft palate associated with syndromes or chromosomal anomalies among mothers younger than 35 years but not in those older than 35 years. Conclusion : A slightly higher rate of orofacial clefts was observed in the east of Ireland than was observed in European and multinational studies during the study period, and there were higher rates of cleft palate. The rising trend in the proportion of mothers aged 35 years or older in Ireland is not contributing significantly to orofacial clefts associated with chromosomal syndromes.

  13. Effect of Nasal Floor Closure on the Size of Alveolar Cleft in Complete Unilateral or Bilateral Primary Cleft Palate

    Directory of Open Access Journals (Sweden)

    M Moghadaszadeh

    2012-10-01

    Full Text Available Introduction: Cleft lip (CL and cleft palate (CP are among the most common congenital anomalies. Constituting 65% of head and neck anomalies in isolated or syndromic forms, they are considered as the most common head and neck congenital deformities in children. Methods: 15 children from the Tabriz Children Hospital were evaluated in this descriptive-analytic cross sectional study that possessed unilateral and bilateral cleft lip and palate with inclusion criteria. The effect of nasal floor reconstruction on the size of alveolar cleft and palatal anterior fistula formation were evaluated in primary unilateral and bilateral cleft palate. Results: There were 11 (73.3% male and only 4 (26.7% female patients in the sample group. The mean duration from first consult to reconstructive surgery was 3.4±1.8 months (1 to 9 months range. The width of alveolar cleft and alveolar ridge angle on cleft side compared to normal side in sagittal and coronal axis was significant after nasal floor reconstruction (P=0.001, P=0.02, while septal angle changes were not significant (P=0.26, which means no increase in septal deviation has been documented. Conclusion: Considering the significant changes of alveolar cleft width and alveolar ridge angle on cleft side compared to normal side in sagittal and coronal axis after nasal floor closure, this method can be applied as a new interventional surgery in primary unilateral and bilateral cleft palate.

  14. Cleft lip and palate review: Epidemiology, risk factors, quality of life, and importance of classifications

    Directory of Open Access Journals (Sweden)

    Laureen Supit

    2008-12-01

    Full Text Available Cleft lip with or without cleft palate is the most occurring craniofacial anomaly in human, resulting from a complex etiology involving multiple genetic and environmental factors. The defect carries lifelong morbidity and economic burden. Children with clefts will require continuous medical interventions for at least the first 18 years of life, affecting many aspects of their lives. The extent and complexity of clefts vary infinitely, later determining individual management and outcome. Identification and classification play significant roles in initial assessment of these unique cleft cases, which affect options for following correctional attempts. Some classifications even allow measurement of progress after anatomical repositioning, and success rate after surgical repairs. The challenge of developing one such widely inclusive classification is discussed. (Med J Indones 2008; 17: 226-39Keywords: Cleft lip, cleft palate, congenital anomaly, cleft  classfications

  15. A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

    Science.gov (United States)

    Rechavi, Erez; Lev, Atar; Eyal, Eran; Barel, Ortal; Kol, Nitzan; Barhom, Sarit Farage; Pode-Shakked, Ben; Anikster, Yair; Somech, Raz; Simon, Amos J

    2016-11-01

    Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develops in some patients. We sought to further investigate the immune defect in an ICF patient with a novel missense mutation in DNMT3B and a severe phenotype. Patient lymphocytes were examined for subset counts, immunoglobulin levels, T and B cell de novo production (via excision circles) and receptor repertoire diversity. Mutated DNMT3B protein structure was modeled to assess the effect of a mutation located outside of the catalytic region on protein function. A novel homozygous missense mutation, Ala585Thr, was found in DNMT3B. The patient had decreased B cell counts with hypogammaglobulinemia, and normal T cell counts. CD4(+) T cells decreased over time, leading to an inversion of the CD4(+) to CD8(+) ratio. Excision circle copy numbers were normal, signifying normal de novo lymphocyte production, but the ratio between naïve and total B cells was low, indicating decreased in vivo B cell replication. T and B cell receptor repertoires displayed normal diversity. Computerized modeling of the mutated Ala585 residue suggested reduced thermostability, possibly affecting the enzyme kinetics. Our results highlight the existence of a T cell defect that develops over time in ICF patient, in addition to the known B cell dysfunction. With intravenous immunoglobulin (IVIG) treatment ameliorating the B cell defect, the extent of CD4(+) lymphopenia may determine the severity of ICF immunodeficiency.

  16. Cleft lip and/or palate: review.

    Science.gov (United States)

    Farronato, G; Cannalire, P; Martinelli, G; Tubertini, I; Giannini, L; Galbiati, G; Maspero, C

    2014-04-01

    Aim of the review was to provide a literature overview of the birth defects of cleft lip and/or cleft palate (CL/P). Through the use of the PubMed database items were collected that would provide information about the condition, leading to the discussion of the following topics: epidemiology, anatomical features, genetics, environmental factors, diagnosis and treatment. According to these data, the CL/P are the most common congenital malformations of the craniofacial region. There are different phenotypes and clinical features of this malformation, which differ according to the anatomical structures involved: cleft lip, cleft lip and cleft palate. The etiology is multifactorial and includes both genetic factors and environmental factors. For proper diagnosis and treatment it is important to complete a multidisciplinary approach to guide the patient from birth to the end of growth. Among the outstanding figures for the care of the anomaly are: the gynecologist, the pediatrician, the maxillofacial surgeon and orthodontist. Individuals with a cleft lip and/or cleft palate may experience problems in feeding, pronunciation, hearing and social integration, which can be corrected to a different extent by surgery, dental treatment, speech therapy and psychosocial interventions. Today the optimal treatment is difficult to find, because of the large variability of malformations and the subjective response of each patient to therapy.

  17. BILATERAL TESSIER CLEFT 3: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Utpal

    2014-06-01

    Full Text Available Tessier cleft 3 is a very rare congenital anomaly, (2 especially the bilateral form. Very few cases have been reported worldwide. (1,2 I report a case of bilateral Tessier cleft 3 presenting at the age of three months with clefts extending from philtral regions, undermining the nasal alar bases to the medial canthal areas bilaterally. There were bilateral complete alveolar clefts with mild protrusion of the pre-maxilla, but the rest of the maxilla including the palate was not involved. Surgical correction was started at the age of three months and completed at the age of one and half years in three stages. There was no intra-operative or postoperative complications and the final result was satisfactory.

  18. Facial Cosmetic Surgery

    Science.gov (United States)

    ... out more. Cleft Lip/Palate and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may ... out more. Cleft Lip/Palate and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may ...

  19. Ethnic Variation in Oral Cleft Occurrence in Denmark 1981–2002

    DEFF Research Database (Denmark)

    Pedersen, Grete Skøtt; Pedersen, Dorthe Almind; Mortensen, Laust Hvas

    2014-01-01

    cases were categorized into isolated and nonisolated cleft lip with or without palate (CL/P) and cleft palate only (CP). Birth prevalence was calculated as cases per 1,000 live born children by maternal country of origin, world region, and mixed parental groups. Results :   We identified 3094 OC cases......Objective :  To examine differences in oral cleft (OC) occurrence based on maternal only and parental country of origin in Denmark from 1981 to 2002. Methods :   Data on all live births from the Danish Medical Birth Register from 1981 to 2002 were linked with the Danish Facial Cleft Database. Cleft...

  20. Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.

    Science.gov (United States)

    Rios, Livia T; Araujo Júnior, Edward; Caetano, Ana C R; Nardozza, Luciano M; Moron, Antonio F; Martins, Marília G

    2012-01-01

    THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the "lobster-claw" hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

  1. Centralisation of services for children with cleft lip or palate in England: a study of hospital episode statistics

    Science.gov (United States)

    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. Centralisation of services for children with cleft lip or palate in England: a study of hospital episode statistics

    Directory of Open Access Journals (Sweden)

    Fitzsimons Kate J

    2012-06-01

    Full Text Available Abstract 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

  3. Cleft Lip and Palate Surgery

    Science.gov (United States)

    ... correct a physical defect caused by a cleft lip or cleft palate, which occur once in every 600 live ... recommend additional treatment for complications caused by cleft lip and cleft palate. Additional treatments may include: • Surgery to correct ...

  4. Etiology and genetic factors in clefts of lip and/or palate reported at children′s hospital, Lahore, Pakistan

    Directory of Open Access Journals (Sweden)

    Muhammad Yaqoob

    2013-01-01

    Full Text Available The etiology of cleft lip (CL and/or cleft palate (CP has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was completed from 1 st July 2010 to 31 st May 2011 for 100 cases of CL and/or CP referred to the Genetic Clinic of the Children′s Hospital, Lahore, Pakistan. A clinical examination followed by necessary diagnostic work-up was completed for each case. The cause of CL and/or CP was clear in 18% of the children ( n = 18. Environmental causes were found in 6 children (four mothers developed hyperthermia during the 2 nd month of gestation, one mother was diabetic, and one mother was a known case of epilepsy and took sodium valproate throughout her pregnancy. Six children were suffering from known genetic malformation syndromes (each with Jarcho-Levin syndrome, Oral-Facial-Digital syndrome type XI, Oral-Duplication syndrome, Kabuki syndrome, Fronto-nasal dysplasia and Nager syndrome. Novel chromosomal aberrations were identified in 2 children. In 82% of the children ( n = 82 the cause of oro-facial clefts remained unknown. Impact of gender and consanguinity on the development of CL and/or CP was also studied. Prevalence of CP was significantly more among female children as compared to that in males ( P < 0.05. Associated anomalies were present in 18% of the cases, anomalies of the craniofacial region being the most common. These findings were compared with regional and international studies.

  5. Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

    Science.gov (United States)

    Gamba, Bruno F.; Zechi-Ceide, Roseli M.; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Rosenberg, Carla; Krepischi Santos, Ana C.V.; Ribeiro-Bicudo, Lucilene; Richieri-Costa, Antonio

    2016-01-01

    We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings. A few genes within the deleted region are associated with congenital anomalies, mainly the RBM8A, DUF1220, and HYDIN2 paralogs. Our patient presents with a spectrum of unusual malformations of 1q21.1 deletion syndrome not reported up to date. PMID:27920638

  6. Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy.

    Science.gov (United States)

    Engum, Scott A

    2008-08-01

    Sternal clefts, ectopia cordis, and Cantrell's pentalogy continue to be very rare congenital anomalies in pediatric surgery. Unfortunately, these conditions present as neonatal emergencies and demand early surgical intervention. This article reviews the embryological development of the chest wall, specific sternal defect anomalies, along with available methods of treatment.

  7. Laryngo-tracheo-oesophageal clefts

    Directory of Open Access Journals (Sweden)

    Leboulanger Nicolas

    2011-12-01

    Full Text Available Abstract A laryngo-tracheo-esophageal cleft (LC is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%, mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4, and gastro-esophageal reflux disease (GERD. The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of

  8. Cleft Palate Foundation

    Science.gov (United States)

    ... available in English , Spanish , and Mandarin ! Information on Cleft Lip and Palate Our booklets and factsheets address a variety of issues related to cleft lip and palate, such as speech, hearing, genetics, and what to ...

  9. Cleft lip repair - slideshow

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/presentations/100010.htm Cleft lip repair - series—Normal anatomy To use the sharing ... abnormal opening in the middle of the upper lip. A cleft palate is an opening in the roof of ...

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

    Science.gov (United States)

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

    2014-12-01

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

  11. Basal sphenoethmoidal encephalocele in association with midline cleft lip and palate: case report

    Energy Technology Data Exchange (ETDEWEB)

    Holanda, Maurus Marques de Almeida; Rocha, Artur Bastos; Santos, Rayan Haquim Pinheiro [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil); Furtado, Paulo Germano Cavalcanti [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil). Dept. de Pediatria e Genetica

    2011-11-15

    Association of basal sphenoethmoidal encephalocele with midline cleft lip and palate is extremely rare. The authors report the case of a nine-year-old girl presenting a midline facial cleft with meningocele that was noticeable through the palatine defect as a medial intranasal pulsatile mass. An analysis of clinical and radiological findings of the present case of cranial dysraphism is carried out. (author)

  12. Risk of Breast Cancer in Families with Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Dietz, Alexander; Pedersen, Dorthe Almind; Jacobsen, Rune

    2012-01-01

    PURPOSE: To test whether female subjects in families with cleft lip and/or palate (CL/P) have an increased risk of breast cancer. METHODS: By using the Danish Facial Cleft Registry, we identified female subjects with CL/P, mothers of children with CL/P, and sisters to CL/P cases for the Danish...

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

    Science.gov (United States)

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

    2017-05-16

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

  14. Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images

    Energy Technology Data Exchange (ETDEWEB)

    Hayashi, N. [Department of Radiology, Faculty of Medicine, University of Tokyo (Japan); Department of Radiology, Section of Neuroradiology, University of California San Francisco, CA (United States); Tsutsumi, Y. [Department of Radiology, National Okura Hospital, Tokyo (Japan); Barkovich, A.J. [Department of Radiology, Section of Neuroradiology, University of California San Francisco, CA (United States)

    2002-05-01

    Although they are well documented in autopsy series, the macroscopic features and associated anomalies of schizencephalies have not been described in detail in a large clinical population. To assess the macroscopic findings of schizencephaly and the prevalence of associated findings, we conducted a retrospective MR analysis of a group of patients with schizencephaly. The MR studies of 35 patients with schizencephaly were retrospectively reviewed. The images were examined for the location and size of the schizencephalic cleft, the presence and location of associated polymicrogyria, and the presence, location, and severity of other brain anomalies. A total of 54 schizencephalic clefts were seen in the 35 patients. These clefts were unilateral in 18 (51%) patients and bilateral in 17 (49%) patients; three clefts were identified in two patients. Nine clefts (17%) had fused lips and 45 had separated-lip clefts (83%). Polymicrogyria was present inside 23 clefts (43%), while subependymal heterotopias were present at the cleft orifice in 27 clefts (50%). Polymicrogyria was identified outside the cleft, both adjacent to and remote from the cleft, in 23 patients (66%). Abnormal cerebral white-matter signal intensity was present in seven patients (20%), while white-matter volume diminution was noted in all patients. Ventricular diverticula with mass effect, roofing membranes, remnant floors, and cord-like remnants were present in 12, 1, 11, and 3 patients, respectively. Our results show that the spectrum of macroscopic findings in schizencephaly includes fused-lip and separated-lip clefts, polymicrogyric and non-polymicrogyric cleft linings, cyst-like diverticula and membranous structures, and subependymal heterotopia at the cleft. Concomitant anomalies are polymicrogyria outside the cleft, white-matter diminution, septal and optic pathway anomalies, callosal anomalies and hippocampal anomalies. Unilateral and bilateral clefts occur in a nearly equal frequency in the clinical

  15. Orofacial clefts with associated anomalies in Lithuania

    OpenAIRE

    Zarakauskaitė, Eglė; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis; Linkevičienė, Laura

    2007-01-01

    A routine screening for other associated malformations, especially skeletal, central nervous system and cardiac defects, is required. Nechromosominių sindromų grupėje buvo nustatyta 20 atskirų nozologinių vienetų, grupėje su chromosominiais persitvarkymais buvo nustatyta 11 atskirų chromosomų persitvarkymo variantų ir 420 skirtingų raidos defektų buvo nustatyta neidentifikuotų sindromų grupės pacientams. Išvados. Atlikti tyrimų rezultatai rodo, kad tikslinga šiuos pacientus konsultuoti gru...

  16. Influence of isolated cleft palate and palatoplasty on the face

    Directory of Open Access Journals (Sweden)

    Omar Gabriel da Silva Filho

    2007-06-01

    Full Text Available INTRODUCTION: The literature has demonstrated that alterations in craniofacial morphology characterizing individuals with cleft palate are observed in both operated and unoperated patients. OBJECTIVE: This study evaluated the influence of isolated cleft palate and palatoplasty on the face, based on facial analysis. MATERIAL AND METHODS: Lateral facial photographs of the right side of 85 young adult patients with cleft palate were analyzed, of whom 50 were operated on and 35 had never received any previous surgical treatment. The nasolabial angle and zygomatic projection were used to define the maxillary position in the face. Mandibular positioning was classified as Pattern I, II and III. RESULTS: Patients were distributed into 54.12% as Pattern I, 32.94% Pattern II and 12.94% Pattern III. Distribution of facial patterns did not show statistically significant differences between groups (p>0.05. Although palatoplasty did not influence the facial pattern, the zygomatic projection was vulnerable to plastic surgeries. Twenty-eight percent of the patients in the operated group showed zygomatic deficiency, compared to only 8.5% in the unoperated group. CONCLUSIONS: In patients with isolated cleft palate, palatoplasty may influence negatively the sagittal behavior of the maxilla, according to the zygomatic projection of the face, though without compromising the facial pattern.

  17. Cleft lip and palate: recommendations for dental anesthetic procedure based on anatomic evidences.

    Science.gov (United States)

    Trindade-Suedam, Ivy Kiemle; Gaia, Bruno Felipe; Cheng, Cheong Kuo; Trindade, Paulo Alceu Kiemle; Bastos, José Carlos da Cunha; Mattos, Beatriz Silva Câmara

    2012-02-01

    Patients with cleft lip and palate usually present dental anomalies of number, shape, structure and position in the cleft area and the general dentist is frequently asked to restore or extract those teeth. Considering that several anatomic variations are expected in teeth adjacent to cleft areas and that knowledge of these variations by general dentists is required for optimal treatment, the objectives of this paper are: 1) to describe changes in the innervation pattern of anterior teeth and soft tissue caused by the presence of a cleft, 2) to describe a local anesthetic procedure in unilateral and bilateral clefts, and 3) to provide recommendations to improve anesthetic procedures in patients with cleft lip and palate. The cases of 2 patients are presented: one with complete unilateral cleft lip and palate, and the other with complete bilateral cleft lip and palate. The patients underwent local anesthesia in the cleft area in order to extract teeth with poor bone support. The modified anesthetic procedure, respecting the altered course of nerves in the cleft maxilla and soft tissue alterations at the cleft site, was accomplished successfully and the tooth extraction was performed with no pain to the patients. General dentists should be aware of the anatomic variations in nerve courses in the cleft area to offer high quality treatment to patients with cleft lip and palate.

  18. Cleft lip and palate: recommendations for dental anesthetic procedure based on anatomic evidences

    Directory of Open Access Journals (Sweden)

    Ivy Kiemle Trindade-Suedam

    2012-02-01

    Full Text Available Patients with cleft lip and palate usually present dental anomalies of number, shape, structure and position in the cleft area and the general dentist is frequently asked to restore or extract those teeth. Considering that several anatomic variations are expected in teeth adjacent to cleft areas and that knowledge of these variations by general dentists is required for optimal treatment, the objectives of this paper are: 1 to describe changes in the innervation pattern of anterior teeth and soft tissue caused by the presence of a cleft, 2 to describe a local anesthetic procedure in unilateral and bilateral clefts, and 3 to provide recommendations to improve anesthetic procedures in patients with cleft lip and palate. The cases of 2 patients are presented: one with complete unilateral cleft lip and palate, and the other with complete bilateral cleft lip and palate. The patients underwent local anesthesia in the cleft area in order to extract teeth with poor bone support. The modified anesthetic procedure, respecting the altered course of nerves in the cleft maxilla and soft tissue alterations at the cleft site, was accomplished successfully and the tooth extraction was performed with no pain to the patients. General dentists should be aware of the anatomic variations in nerve courses in the cleft area to offer high quality treatment to patients with cleft lip and palate.

  19. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP - Part 5: Institutional outcomes assessment and the role of the Laboratory of Physiology

    Directory of Open Access Journals (Sweden)

    Jose Alberto de Souza Freitas

    2013-07-01

    Full Text Available The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology.

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

    Science.gov (United States)

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

    2016-12-20

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

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

    Science.gov (United States)

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

    2015-01-01

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

  2. Epidemiology of orofacial clefts in Africa: Methodological challenges in ascertainment.

    Directory of Open Access Journals (Sweden)

    Peter Mossey

    2009-04-01

    Full Text Available Background:To carry out a systematic review of the birth prevalence of cleft lip with or without cleft palate (CLP and cleft palate (CP in Africa based on available published data. Methods:Using the Cochrane search strategy and the following keywords words “cleft palate”, “prevalence”, “incidence”, “cleft lip” and “Africa” to screen Ovid Medline (1966 to March 2007, Cinahl (1982-March 2007, Pub Med, Scopus, and Web-Google. All identified published, prospective and retrospective studies on the birth prevalence of CLP and CP in Africa were included. The dates, location, sources, number of births (live births, still births, number of cleft cases, prevalence rates, sex ratio, cleft types, and clefts with associated anomalies were extracted. Results:Ascertainment of cases was through the hospitals. Overall there were 57 CL/P, 56 CL and 36 CP reported from all the studies. From seven studies combined, 21 males and 20 females had CL, 10 males and 22 females with CP and 26 males and 24 females with CL/P. There were 3 cases with CL/P, 2 with CP and 2 with CL from the three studies that reported clefts with associated anomalies. Conclusion:For an improved ascertainment of cleft cases, there is a need to set up a birth defects surveillance system in the form of a national birth registry. Future studies should then aim to include the entire population in geographically defined regions. Reliable data on incidence is an essential pre-requisite for studies into aetiology and prevention.

  3. Syndromes associated with labiopalatine clefting: A report of three cases

    Directory of Open Access Journals (Sweden)

    Thomas A

    2008-06-01

    Full Text Available Clefts of the lip and palate are a common craniofacial anomaly, The etiology is thought to be multifactorial, with both genetic and environmental factors playing a role. Because of the frequent manifestation of cleft lip and palate in association with some syndromes, it is essential that a detailed examination of these patients be carried out. This facilitates early formulation of preventive and treatment advice and aids in overcoming gross deformities in the early stages of development. In this paper, we review three such patients who presented with cleft lip and palate in association with a syndrome.

  4. 3D finite element model for treatment of cleft lip

    Science.gov (United States)

    Jiao, Chun; Hong, Dongming; Lu, Hongbing; Wang, Jianqi; Lin, Qin; Liang, Zhengrong

    2009-02-01

    Cleft lip is a congenital facial deformity with high occurrence rate in China. Surgical procedure involving Millard or Tennison methods is usually employed for treatment of cleft lip. However, due to the elasticity of the soft tissues and the mechanical interaction between skin and maxillary, the occurrence rate of facial abnormality or dehisce is still high after the surgery, leading to multiple operations of the patient. In this study, a framework of constructing a realistic 3D finite element model (FEM) for the treatment of cleft lip has been established. It consists of two major steps. The first one is the reconstruction of a 3D geometrical model of the cleft lip from scanning CT data. The second step is the build-up of a FEM for cleft lip using the geometric model, where the material property of all the tetrahedrons was calculated from the CT densities directly using an empirical curve. The simulation results demonstrated (1) the deformation procedure of the model step-by-step when forces were applied, (2) the stress distribution inside the model, and (3) the displacement of all elements in the model. With the computer simulation, the minimal force of having the cleft be repaired is predicted, as well as whether a given force sufficient for the treatment of a specific individual. It indicates that the proposed framework could integrate the treatment planning with stress analysis based on a realistic patient model.

  5. #Cleft: The Use of Social Media Amongst Parents of Infants with Clefts.

    Science.gov (United States)

    Khouri, Joseph S; McCheyne, Melisande J; Morrison, Clinton S

    2017-01-13

      Many societies and organizations are using social media to reach their target audience. The extent to which parents of patients with craniofacial anomalies use social media has yet to be determined. The goal of this study is to characterize and describe the use of social media by the parents of children with cleft lip and palate as it pertains to the care of their child.   Parents or guardian of all patients presenting for initial consultation regarding a child's congenital cleft anomaly were contacted by phone or mail to complete a survey regarding their use of social media vis-à-vis their child's cleft anomaly. Participants were asked to answer a 19-question survey.   Thirty-two families were contacted and 25 surveys were completed. Ninety-two percent of respondents used social media to learn about their child's diagnosis. Facebook (76%) and blogs (24%) were the most commonly accessed social media outlets, followed by Instagram (8%). Education about the diagnosis and treatment of cleft pathology (87%) was the most common reason for accessing social media, followed by companionship and support (56%), and advice about perioperative care (52%). Almost half (43%) of parents used social media to obtain information on their caregiver and treatment team, and 26% of parents used information gained on social media to guide their decision on where to seek care.   Social media is a readily available resource, one that will certainly shape the experiences of our patients and families for years to come.

  6. Cleft lip and palate repair

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/002979.htm Cleft lip and palate repair To use the sharing features on this page, please enable JavaScript. Cleft lip and cleft palate repair is surgery to fix birth defects ...

  7. A comparative study of craniofacial morphology of cleft lip children with or without palate

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Su Beom; Kim, Young Ju; Koh, Kwang Joon [Dept. of Oral Radiology, College of Dentistry, Chonbuk National University, Chonju (Korea, Republic of)

    1995-08-15

    The purpose of this study was to determine whether any difference existed in craniofacial morphology between cleft children and normal subjects. Thirty three measurements of the various regions of cranium and face were obtained from lateral cephalometric radiograms in 40 cleft children (27 males, 13 females) and 40 normal subjects (23 males, 17 females) in our dental hospital from Jan. 1988 to Dec. 1995. The measurements were compared with those in control subjects who had no history of craniofacial abnormalities.. The obtained results were as follows; l. In the cranium, the cleft children had significantly shorter posterior cranial base length (S-Ba) and total antero-posterior cranial base length (N-Ba) (P<0.05). 2. In the upper face, the cleft children had significantly shorter upper anterior facial height (N-ANS) and upper posterior facial height (Ptm'-SNL) (P<0.05). 3. In the lower face, the cleft children had significantly shorter antero-posterior mandibular length (Pog-Ar) and antero-posterior mandibular body length (Pog-Go) (P<0.05). 4. In the facial profile, the cleft children had significantly shorter total facial height (N-Me) and posterior facial height (S-Go) (P<0.05).

  8. 3D computed tomographic evaluation of secondary alveolar bone grafts in cleft lip and palate patients

    Energy Technology Data Exchange (ETDEWEB)

    Ohkubo, Fumio; Akai, Hidemi; Hosaka, Yoshiaki [Showa Univ., Tokyo (Japan). School of Medicine

    2001-04-01

    Alveolar bone grafting in patients with cleft lip and palate has becomes a routine part of most treatment regimes. This study was undertaken to estimate how much bone needs to be grafted into the cleft cavity and to evaluate the grafted bone using 3-DCT over a period from the early postoperative stage to after one year. Seventy-five patients divided into four groups according to the type of cleft were studied. All patients underwent secondary alveolar bone grafting using particulate cancellous bone from the anterior iliac crest. The bone graft areas were divided into two regions: the extra-cleft region and the intra-cleft region. The weight and the volume of the grafted bone were correlated and the average density was 1.5 g/ml regardless of the cleft type. The bone in the extra-cleft region could be seen in almost all slices of the CT scans, from the lower alveolar process to the piriform aperture. The extra-cleft graft ratio of unilateral and bilateral cleft lip and palate is higher than that of cleft lip and alveolus. The extra-cleft grafting is necessary to restore facial symmetry. The grafted bone was decreased in both height and volume following three months and adequate bone bridging was maintained for one year. We concluded that 3-DCT findings are one of the most valuable methods to evaluate postoperative conditions after alveolar bone grafting. (author)

  9. A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.

    Science.gov (United States)

    van Diepen, Mireille M L; Gijsbers, Antoinet C J; Bosch, Cathy A J; Oudesluys-Murphy, Anne Marie; Ruivenkamp, Claudia A L; Bijlsma, Emilia K

    2011-01-01

    We report a 797 kb de novo interstitial deletion of 18q21.31 in a 6-year-old boy with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies. Examination of the region showed two genes, TXNL1 and WDR7, to be involved in the deletion. Haploinsufficiency of these genes could potentially contribute to the phenotype. Our patient has some clinical features that overlap with earlier described patients with a larger deletion of the distal part of chromosome 18q. The small deletion in region 18q21.31 may be responsible for some of the common features found in patients with larger 18q deletions.

  10. Post-surgical dentofacial deformities and dental treatment needs in cleft-lip-palate children: A clinical study

    Directory of Open Access Journals (Sweden)

    V Krishna Priya

    2011-01-01

    Full Text Available Background: Cleft lip and palate is a common congenital defect. It is one of the most common facial deformities occurring in major racial and ethnic groups. Aims: The aim of the present study was to record the post-surgical dentofacial deformities in operated cleft lip and palate children, as well as to assess the multitude and magnitude of their dental and other related problems so as to formulate an appropriate treatment plan for complete oral rehabilitation of these children. Materials and Methods: The present in vivo study was conducted on 50 operated cleft lip and palate children (23 males and 27 females ranging from 3 to 14 years of age in an attempt to evaluate the post-surgical dentofacial abnormalities in these children. Results and Conclusions: The study revealed that the distribution of cleft deformity is shown out of 23 male children, 11 children with unilateral cleft lip, 9 children with bilateral cleft lip palate, and remaining 3 children were with cleft palate. Out of 27 female children, 19 children with unilateral cleft lip palate, 3 children with bilateral cleft lip palate, and 5 children with cleft palate. This study showed a wide range of surgical, dental, and functional problems in all operated cleft lip and palate patients. Hence, the study concluded that the effect of timing of the cleft repair on the overall development of facio skeletal-dental structures showed insignificant differences among the various operated cleft-lip-palate children.

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

    Science.gov (United States)

    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.…

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

    Science.gov (United States)

    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.…

  13. Single Visit Feeding Appliance for 1‑day‑old Neonate with Cleft ...

    African Journals Online (AJOL)

    Cleft lip and palate is one of the most common craniofacial anomalies of humans. ... It is difficult to control the flow of the impression material in the cleft area and ... A gauze piece was used to confine the impression material during functional ...

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

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    Galen W Heyne

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

  15. Cleft Lip and Palate

    Science.gov (United States)

    ... With Cleft Lip or Cleft Palate en español Labio leporino y paladar hendido Tilt your head back a bit and look in the mirror. Do you see the way your nose connects to your upper lip? Now open your mouth. Do you see the ...

  16. Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome

    Directory of Open Access Journals (Sweden)

    Elizabeth N. Schock

    2015-08-01

    Full Text Available Oral-facial-digital syndrome (OFD is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these individuals have several other characteristic abnormalities that are typical of a ciliopathy, including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. Recently, a subset of OFD cases in humans has been linked to mutations in the centriolar protein C2 Ca2+-dependent domain-containing 3 (C2CD3. Our previous work identified mutations in C2CD3 as the causal genetic lesion for the avian talpid2 mutant. Based on this common genetic etiology, we re-examined the talpid2 mutant biochemically and phenotypically for characteristics of OFD. We found that, as in OFD-affected individuals, protein-protein interactions between C2CD3 and oral-facial-digital syndrome 1 protein (OFD1 are reduced in talpid2 cells. Furthermore, we found that all common phenotypes were conserved between OFD-affected individuals and avian talpid2 mutants. In light of these findings, we utilized the talpid2 model to examine the cellular basis for the oral-facial phenotypes present in OFD. Specifically, we examined the development and differentiation of cranial neural crest cells (CNCCs when C2CD3-dependent ciliogenesis was impaired. Our studies suggest that although disruptions of C2CD3-dependent ciliogenesis do not affect CNCC specification or proliferation, CNCC migration and differentiation are disrupted. Loss of C2CD3-dependent ciliogenesis affects the dispersion and directional persistence of migratory CNCCs. Furthermore, loss of C2CD3-dependent ciliogenesis results in dysmorphic and enlarged CNCC-derived facial cartilages. Thus, these findings suggest that aberrant CNCC migration and differentiation could contribute to the pathology of oral-facial defects in OFD.

  17. Root development of permanent lateral incisor in cleft lip and palate children: A radiographic study

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    Amarlal Deepti

    2007-01-01

    Full Text Available Objective: The objective of this study was to compare the root development of lateral incisor on the cleft side with the root development of its contralateral tooth in cleft lip and palate children. Setting: Cleft lip and palate wing, Meenakshi Ammal Dental College and Hospital, Chennai, South India. Materials and Methods: A sample of 96 orthopantamograms of patients with unilateral or bilateral cleft lip and/or cleft palate was selected, regardless of sex and race. Main Outcome Measure: Orthopantamograms were analyzed for root development of lateral incisor on the cleft and noncleft side. Associated anomalies like hypodontia, supernumerary teeth, malformed lateral incisors and root development of canine, if present, were recorded. Findings and Conclusions: Root development of permanent lateral incisor was delayed on the cleft side compared to the noncleft side. There was a statistically significant relationship between levels of root development of lateral incisors on the cleft side within the different study groups ( P < 0.05. Incidence of hypodontia increased in proportion to cleft severity. Frequency of missing second premolars, supernumerary teeth and malformed lateral incisors increased in cleft lip and palate patients. Root development of canine showed a slight delay on the cleft side when compared to the canine on the noncleft side.

  18. De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

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    Shirley Lo-A-Njoe

    2016-01-01

    Full Text Available Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies.

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

    Science.gov (United States)

    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

  20. Ankyloglossia with cleft lip: A rare case report

    Directory of Open Access Journals (Sweden)

    Kritika Jangid

    2015-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

  2. Prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate and talipes equinovarus in Bayelsa State, Nigeria

    Directory of Open Access Journals (Sweden)

    Oyinbo, Charles A.

    2009-09-01

    Full Text Available Studies on incidence of birth anomalies are abundant world wide, but literatures on general population prevalence of anomalies are scanty, despite the fact that structural anomaly is the 5th leading cause of years of potential life lost prior to age 65 and a major contributor to disabilities. The purpose of this study is to estimate the general population prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate, and talipes equinovarus in Bayelsa State, Nigeria. Two thousand (2000 subjects domicile in Bayelsa State were randomly selected for this study. Subjects were physically screened for musculoskeletal anomalies. Individuals with genetic syndromes were excluded. Study did not discriminate between types or sub- types of any anomaly. Results show that the overall population prevalence of musculoskeletal anomalies is 13%; with a high proportion (67% of minor anomalies. The general population prevalence of these anomalies is comparable with known birth prevalence world wide. Thus suggestive that a general population prevalence estimate of an anomaly could be a useful estimate of congenital anomaly in developing countries were record keeping are largely poor.

  3. Median cleft of the upper lip associated with a mass: a rare case.

    Science.gov (United States)

    Jian, Xin-Chun; Zheng, Lian; Xu, Pu; Liu, De-Yu

    2014-12-01

    Median cleft lip is a midline vertical cleft through the upper lip. This is a very rare anomaly described in the literature. Median cleft lip is caused by the failure of fusion of the medial nasal prominences. In this case report, a 4-month-old boy with a median cleft associated with a mass of the upper lip is presented. The patient has no other anomalies of the nose or alveolus. The patient has normotelorism. A Z-plasty technique was used on the skin of the base of the columella. A vertical excision of the cleft with muscle approximation was performed on the white roll and the wet-dry border of either side of the defect of the upper lip. Postoperatively, the patient had a satisfactory result. The incisive scars were not visible. Cupid's bow was appropriately aligned, and the height of the upper lip was equal on both sides.

  4. Congenital medium sternal cleft with partial ectopia cordis repair.

    Science.gov (United States)

    Sousa, Paulo Rego; Antunes, Sónia; Couto, Alexandra; Santos, Gonçalo Cassiano; Leal, Luis Gagp; Magalhães, Manuel Pedro

    2009-01-01

    Congenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age. When surgery is performed shortly after birth, the procedure is easier and better results are achieved.

  5. Genetic studies in congenital anterior midline cervical cleft

    DEFF Research Database (Denmark)

    Jakobsen, L P; Pfeiffer, P; Andersen, M

    2012-01-01

    Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

  6. Molecular contribution to cleft palate production in cleft lip mice.

    Science.gov (United States)

    Sasaki, Yasunori; Taya, Yuji; Saito, Kan; Fujita, Kazuya; Aoba, Takaaki; Fujiwara, Taku

    2014-05-01

    Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip. The changes in mRNA profile of cleft palate morphogenesis were presented in a microarray analysis, and genes were restricted to lists contributing to cleft palate development in CL/Fr fetuses with cleft lip. Four candidate genes (Ywhab, Nek2, Tacc1 and Frk) were linked in a gene network that associates with cell proliferation (cell cycle, MAPK, Wnt and Tgf beta pathways). Quantitative real-time RT-PCR highlighted the candidate genes that significantly changed in CL/Fr fetuses with cleft lip (Ywhab, Nek2 and Tacc1). The results of these molecular contributions will provide useful information for a better understanding of palatogenesis in cleft palate following cleft lip. Our data indicated the genetic contribution to cleft palate morphogenesis following cleft lip.

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

    Directory of Open Access Journals (Sweden)

    Hamid Reza Kianifar

    2015-01-01

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

  8. Analysis methods for facial motion

    Directory of Open Access Journals (Sweden)

    Katsuaki Mishima

    2009-05-01

    Full Text Available Objective techniques to evaluate a facial movement are indispensable for the contemporary treatment of patients with motor disorders such as facial paralysis, cleft lip, postoperative head and neck cancer, and so on. Recently, computer-assisted, video-based techniques have been devised and reported as measuring systems in which facial movements can be evaluated quantitatively. Commercially available motion analysis systems, in which a stereo-measuring technique with multiple cameras and markers to facilitate search of matching among images through all cameras, also are utilized, and are used in many measuring systems such as video-based systems. The key is how the problems of facial movement can be extracted precisely, and how useful information for the diagnosis and decision-making process can be derived from analyses of facial movement. Therefore, it is important to discuss which facial animations should be examined, and whether fixation of the head and markers attached to the face can hamper natural facial movement.

  9. Cleft lip and palate genetics and application in early embryological development.

    Science.gov (United States)

    Yu, Wenli; Serrano, Maria; Miguel, Symone San; Ruest, L Bruno; Svoboda, Kathy K H

    2009-10-01

    The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP). An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL), is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic.

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

    Science.gov (United States)

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

    2014-10-01

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

  11. Three-Dimensional Assessment of Early Surgical Outcome in Repaired Unilateral Cleft Lip and Palate: Part 2. Lip Changes.

    LENUS (Irish Health Repository)

    Ayoub, Ashraf

    2010-09-08

    Abstract Objective: To evaluate 3D lip morphology, following primary reconstruction in children with unilateral cleft lip and palate (UCLP) relative to contemporaneous non-cleft data Design: Prospective, cross-sectional, controlled study Setting: Glasgow Dental Hospital & School, University of Glasgow, The UK. Patients and Participants: Two groups of 3-year old children (21 with unilateral cleft lip and palate and 96 controls) with facial images taken using a 3D vision based capture technique. Methods: 3D images of the face were reflected so the cleft was on the left side to create a homogenous group for statistical analysis. Three-dimensional co-ordinates of anthropometric landmarks were extracted from facial images. 3D generalised Procustes superimposition was employed and a set of linear measurements were utilised to compare between cleft and control subjects for right and left sides, adjusting for sex differences. Results: Christa philteri on both the cleft and non-cleft sides were displaced laterally and posteriorly; there was also a statistically significant increase in philtrum width. No significant differences between cleft and control regarding the cutaneous height of the upper lip. The lip in the cleft cases was flatter than in the non-cleft cases with less prominence of labialis superioris. Conclusions: Stereophotogrammetry allows detection of residual dysmorphology following cleft repair. There was significant increase of the philtrum width. The lip appeared flatter and more posterior displaced in Unilateral Cleft Lip and Palate (UCLP) cases compared with control. Keywords: child, cleft lip and palate, lip repair, three-dimensional imaging.

  12. Is PRP useful in alveolar cleft reconstruction? Platelet-rich plasma in secondary alveoloplasty

    OpenAIRE

    Luaces Rey, Ramón; Arenaz Búa, Jorge; López-Cedrún Cembranos, José Luis; Herrero Patiño, Susana; S. Sironvalle Soliva; Iglesias Candal, Emma; Pombo Castro, María

    2010-01-01

    Objective: Cleft lip and palate is a congenital facial malformation with an established treatment protocol. Mixed dentition period is the best moment for correct maxillary bone defect with an alveoloplasty. The aim of this surgical procedure is to facilitate dental eruption, re-establish maxillary arch, close any oro-nasal communication, give support to nasal ala, and in some cases allow dental rehabilitation with osteointegrated implants. Study design: Twenty cleft patients who underwent...

  13. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

    Science.gov (United States)

    Urraca, Nora; Cleary, Julie; Brewer, Victoria; Pivnick, Eniko K; McVicar, Kathryn; Thibert, Ronald L; Schanen, N Carolyn; Esmer, Carmen; Lamport, Dustin; Reiter, Lawrence T

    2013-08-01

    Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum.

  14. An illusionary prosthetic design for a unilateral cleft palate patient

    Directory of Open Access Journals (Sweden)

    Andaç Barkın Bavbek

    2014-01-01

    Full Text Available The prosthetic rehabilitation is an important part of the cleft lip and palate therapy assisting orthodontic and orthognathic treatments. Prosthesis does not only help to improve function and aesthetics but also needs to facilitate a better oral health. The aim of this report is to introduce the prosthetic approach of a 21-year-old female unilateral cleft palate patient that considered reinforcing the mobile canine adjacent to the cleft, easing the elimination of dental plaque from the remaining fistula and reaching an accurate occlusion. Facial aesthetics was established by the illusionary effect of a removable crown complex which is joined onto a fixed partial denture with a precision attachment system.

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

    Science.gov (United States)

    Pirsig, W; Haase, S; Palm, F

    2001-04-01

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

  16. Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants

    DEFF Research Database (Denmark)

    Shi, Min; Christensen, Kaare; Weinberg, Clarice R

    2007-01-01

    Maternal smoking is a recognized risk factor for orofacial clefts. Maternal or fetal pharmacogenetic variants are plausible modulators of this risk. In this work, we studied 5,427 DNA samples, including 1,244 from subjects in Denmark and Iowa with facial clefting and 4,183 from parents, siblings......, or unrelated population controls. We examined 25 single-nucleotide polymorphisms in 16 genes in pathways for detoxification of components of cigarette smoke, to look for evidence of gene-environment interactions. For genes identified as related to oral clefting, we studied gene-expression profiles in fetal...

  17. A feeding appliance for a newborn baby with cleft lip and palate

    OpenAIRE

    Agarwal, Abhay; Rana, Vivek; Shafi, Shabina

    2010-01-01

    A child born with cleft lip and palate may experience difficulties while feeding. Obtaining a good seal of the oral cavity can be difficult due to the incomplete facial and palatal structures. Nasal regurgitation and choking are common in infants with cleft palate because of inability of the palate to separate the nasal and oral cavities. The case presented here is a 3-day-old neonate born with cleft lip and palate, assisted with a new feeding appliance made with ethylene vinyl acetate using ...

  18. Craniofacial anomalies: from development to molecular pathogenesis.

    Science.gov (United States)

    Rice, David P C

    2005-11-01

    Advances in developmental biology combined with progress in human genetics are helping us decipher how the craniofacial region develops and how the consequences of misdirected development result in malformation. This review describes the molecular etiology of a number of craniofacial developmental anomalies. The more common craniofacial anomalies cleft lip and palate and craniosynostosis, as well as cleidocranial dysplasia, hemifacial microsomia, holoprosencephaly, enlarged parietal foramina, Treacher Collins syndrome and cherubism are discussed.

  19. Cleft Lip and Palate Surgery

    Science.gov (United States)

    ... 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 ...

  20. Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication.

    Science.gov (United States)

    Pope, Kathleen; Samanich, Joy; Ramesh, K H; Cannizzaro, Linda; Pan, Qiulu; Babcock, Melanie

    2012-03-01

    We report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left preauricular choristoma, hirsutism, and craniofacial abnormalities. Prenatal cytogenetic evaluation showed karyotype 46,XY,?dup(8p)ish del(8)pter. Postnatal array CGH demonstrated a 6.8 Mb terminal deletion at 8p23.3-p23, an interstitial 31.1 Mb duplication within 8p23.1-p11, and a terminal duplication of 0.24 Mb at 22q13.33, refining the karyotype to 46,XY,der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1).ish der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1) (D8S504-,MS607 + ,ARSA + ,D8Z1 + , RP115713 + +). Previous reports of distal 8p deletion, 8p duplication, and distal 22q duplication have shown similar manifestations, including congenital heart disease, intellectual impairment, and multiple minor anomalies. We correlate the patient's clinical findings with these particular areas of copy number. This case study supports the use of aCGH to identify subtle chromosomal rearrangement in infants with cardiac malformation as their most significant or only apparent birth defect. Additionally, it illustrates why aCGH is essential in the description of chromosome rearrangements, even those seemingly visible via routine karyotype. This method shows that there is often greater complexity submicroscopically, essential to an adequate understanding of a patient's genotype and phenotype.

  1. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

  2. Facial paralysis

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/003028.htm Facial paralysis To use the sharing features on this page, please enable JavaScript. Facial paralysis occurs when a person is no longer able ...

  3. [Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].

    Science.gov (United States)

    Pânzaru, Monica; Rusu, Cristina; Voloşciuc, M; Braha, Elena; Butnariu, Lăcrămioara; Ivanov, I; Grămescu, Mihaela; Popescu, Roxana; Caba, Lavinia; Sireteanu, Adriana; Macovei, M; Covic, M; Gorduza, E V

    2011-01-01

    Velo-Cardio-Facial Syndrome (VCFS) is characterized by congenital heart defects (CHD), palatal abnormalities, facial dysmorphism, neonatal hypocalcemia, immune deficit, speech and learning disabilities. SVCF is caused by microdeletion 22q11.2. Microdeletion is detected by fluorescence in situ hybridization (FISH). The highly variable phenotype makes diagnosis and selection for FISH more difficult. To retrospectively analyze and compare the phenotype of children with a clinical diagnosis of VCFS with/without 22q11 deletion; to verify the validity of literature guidelines and to describe combinations of clinical features that should lead to molecular analysis. The present study was performed in 21 patients with a clinical diagnosis of VCFS. Methaphase chromosome spreads were prepared from phytohaemagglutinin stimulated lymphocyte culture by standard methods before FISH. The patients were divided into two groups according to FISH test: positive and negative. The features commonly noticed in FISH positive patients were: palatal abnormalities/hypernasal speech, learning disabilities, facial dysmorphism, tapered fingers (6/6), CHD (5/6) and recurrent infections (2/6). In FISH negative patients the following were found: learning disabilities, CHD (12/15); facial dysmorphism (10/15), family history of CHD (7/15), short stature (6/15), hypocalcemia, tapered fingers (5/15), recurrent infections (3/15) and palatal cleft (2/15). In both groups, Tobias and McDonald-McGinn guidelines were positive. VCFS has a highly variable phenotype. Our study suggests that 22q11.2 deletion analysis by FISH should be performed in patients who have at least 2 (newborn)/3 (child, adult) specific criteria: CHD, hypocalcemia, palatal abnormalities, facial dysmorphism, learning disabilities, digital anomalies, and immune deficit.

  4. Large destructive facial hemangioma in PHACE syndrome

    Directory of Open Access Journals (Sweden)

    Nagdeve N

    2009-01-01

    Full Text Available We report an infant who presented with large facial hemangioma associated with Dandy-Walker cyst and atrial septal defect. This case is peculiar in that the large facial hemangioma in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of aorta and other cardiac defects (PHACE syndrome resulted in massive tissue destruction.

  5. Abnormal facial appearance and delayed diagnosis of congenital hearing loss.

    Science.gov (United States)

    Crysdale, W S

    1978-08-01

    Congenital hearing loss occurs in association with cranio-facial anomalies. Lay people and health professionals as well frequently regard individuals with cranio-facial anomalies as "stupid" or of lower than normal intelligence because of their odd appearance. Two case reports illustrate that this erroneous assumption will result in the delayed detection of significant hearing loss.

  6. Laryngeal cleft type 1

    Directory of Open Access Journals (Sweden)

    Danilo de Assis Pereira

    2015-06-01

    Full Text Available The clinical itinerary and the institution of conservative therapy in a case of laryngeal cleft type 1 refers to a child born by cesarean section, Apgar 9 and 10, a history of placental nd abruption in the 2 month of pregnancy, with respiratory nd distress on the 2 day of life and difficulty in breast feeding mothers. Presented evidence of aspiration pneumonia. The videodeglutogram showed aspiration of large amounts of material contrasted during swallowing. In bronchoscopy was visualized formation of threadlike small slit making the diagnosis of laryngeal cleft. We then decided, by institution of conservative treatment with enteral nutrition training and thickened with swallowing.

  7. Cone Beam Computed Tomographic Evaluation of Mandibular Asymmetry in Patients With Cleft Lip and Palate.

    Science.gov (United States)

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

    2016-07-21

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-06-01

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

  9. Examine your orofacial cleft patients for Gorlin-Goltz syndrome.

    Science.gov (United States)

    Lambrecht, J T; Kreusch, T

    1997-07-01

    The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.

  10. Prosthetic Modalities Used to Treat Cleft Palate Patients in a University Clinic: A 10-Year Review

    OpenAIRE

    Kranjčić, Josip; Žabarović, Domagoj; Čelebić, Asja; Mehulić, Ketij; Komar, Daniel; Vojvodić, Denis

    2013-01-01

    Cleft palate patients are not usually seen in general dental clinics, but this congenital anomaly is one of the most frequent of cases. General dental practitioners are usually unwilling or/and not sufficiently trained to treat such patients for whom rehabilitation and interdisciplinary cooperation is often needed. The aim of this study was to determine the incidence of prosthetic modalities most frequently used by licensed prosthodontists for prosthetic rehabilitation of cleft palate patient...

  11. The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs

    DEFF Research Database (Denmark)

    de Jong, Josta; Garne, Ester; de Jong-van den Berg, Lolkje T.W.;

    2016-01-01

    anomalies than the other newer AEDs. Four signals were found. The signals for associations between topiramate and cleft lip with/without cleft palate and hypospadias were considered strong. Associations between lamotrigine and anencephaly and transposition of great vessels were found within one study...

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

    Science.gov (United States)

    Avhad, Rajendra; Sar, Ranjukta; Tembhurne, Jyoti

    2014-09-01

    A cleft lip and palate consists of fissures of the upper lip and/or palate, and is the most commonly seen orofacial anomaly that involves the middle third of the face. Early treatment of patients with a cleft lip and palate is important because of esthetic, functional, and psychological concerns. Nasoalveolar molding provides excellent results when started immediately after birth. This clinical report describes the presurgical management of an infant with a complete unilateral cleft of the soft palate, hard palate, alveolar ridge, and lip.

  13. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  14. [Facial palsy].

    Science.gov (United States)

    Cavoy, R

    2013-09-01

    Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

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

    Energy Technology Data Exchange (ETDEWEB)

    Christensen, K.; Holm, N.V.; Kock, K. (Odense Univ. (Denmark)); Olsen, J. (Aarhus Univ. (Denmark)); Fogh-Anderson, P.

    1992-09-01

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

  16. PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

    Science.gov (United States)

    Chincharadze, S; Vadachkoria, Z; Mchedlishvili, I

    2017-01-01

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

  17. Whole blood propionylcarnitine in newborns with orofacial cleft.

    Science.gov (United States)

    Hozyasz, Kamil K; Oltarzewski, Mariusz; Lugowska, Iwona; Szymanski, Marta; Surowiec, Zbigniew

    2011-01-01

    Orofacial clefts are thought to be determined by the interplay of genetic and environmental factors. Experiments on animals demonstrated that vitamin B12 supplemented diets antagonize selected teratogens during palatogenesis. Increased propionylcarnitine in neonates is regarded as a marker of maternal vitamin B12 deficiency. The retrospective study was undertaken to determine whether increased propionylcarnitine in newborns is associated with orofacial clefts. Fifty-two newborns with isolated cleft lip with or without cleft palate (CLP) and 107 control newborns without congenital anomalies were investigated. Whole blood propionylcarnitine concentrations were measured using tandem mass spectrometry. The mean concentrations of propionylcarnitine in newborns with clefts and controls were 2.82±1.06µmolL(-1) and 2.68±0.94µmolL(-1), respectively. T-test for equality of means did not confirm any significant differences between both groups (P=0.381). Deficiency of vitamin B12 with metabolic disturbances seems not to be a risk factor for CLP in the investigated group of patients. © 2010 Blackwell Publishing Ltd.

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

    Directory of Open Access Journals (Sweden)

    Daniella Reis Barbosa Martelli

    2015-10-01

    Full Text Available ABSTRACT INTRODUCTION: Cleft lip and/or palate (CL/P represent the most common congenital anomalies of the face. OBJECTIVE: To assess the relationship between maternal smoking, gender and CL/P. METHODS: This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: Cases: mothers of children with CL/P (n = 843 and Controls: 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. RESULTS: 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. CONCLUSION: 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.

  19. Psychological issues in cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    Sousa Avinash

    2009-01-01

    Full Text Available Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical team to maximize positive outcome of surgery and rehabilitation. This study discusses psychological issues revolving around cleft lip and cleft palate along with lacunae in many psychological research studies.

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

    Science.gov (United States)

    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.

  1. Satisfaction with treatment outcome in bilateral cleft lip and palate patients

    NARCIS (Netherlands)

    Oosterkamp, B.C.; Dijkstra, Pieter; Remmelink, H; van Oort, R.P.; Goorhuis-Brouwer, S.M.; Sandham, John; de Bont, L.G.

    2007-01-01

    The aim of this case-controlled study was to assess satisfaction with facial appearance and function, and health-related quality of life (HRQL) in bilateral cleft lip and palate patients (BCLP). The study sample was composed of adult BCLP subjects and controls matched for age, gender and

  2. Cleft lip and palate repair - discharge

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000004.htm Cleft lip and palate repair - discharge To use the sharing ... Elsevier Saunders; 2015:chap 8. Read More Cleft lip and palate Cleft lip and palate repair Review Date 5/9/ ...

  3. Oral health-related quality of life in children with orofacial clefts.

    Science.gov (United States)

    Ward, Jared A; Vig, Katherine W L; Firestone, Allen R; Mercado, Ana; da Fonseca, Marcio; Johnston, William

    2013-03-01

    Objectives : To determine the impact of orofacial clefts on the oral health-related quality of life of affected children and whether the oral health-related quality of life of children with orofacial clefts differs among different age groups. To assess whether the responses of children with orofacial clefts differ from the caregivers' perceptions of their child's oral health-related quality of life and compare with data from a control group. Design : Cross-sectional study. Patients/Setting : A total of 75 subjects with cleft lip and/or cleft palate (mean age, 13.0 years) from the Nationwide Children's Hospital Craniofacial Anomalies Clinic, as well as their caregivers, and 75 control subjects (mean age, 13.9 years). Main Outcome Measure : Self-reported oral health-related quality of life measured with the Child Oral Health Impact Profile, a reliable and valid questionnaire designed for use with children and teenagers. Results : Children with orofacial clefts had statistically significant lower quality of life scores than control subjects had for overall oral health-related quality of life, Functional Well-being, and Social Emotional Well-being. There was a statistically significant difference in the interaction of age group and Social-Emotional Well-being between children with orofacial clefts and control children. No statistically significant differences were found between the responses of children with orofacial clefts and their caregivers' reports. Conclusions : Presence of an orofacial cleft significantly decreases overall oral health-related quality of life, Functional Well-being, and Social-Emotional Well-being in children and adolescents. The negative impact of orofacial clefts on Social-Emotional Well-being is greater in 15- to 18-year-olds than in younger age groups. Children with orofacial clefts and their caregivers had very similar evaluations of the child's oral health-related quality of life.

  4. Maternal Risk Factors for Oral Clefts: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Elham Mobasheri

    2011-01-01

    Full Text Available Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran.  Materials and Methods: This hospital-based case-control study was performed in three hospitals in Gorgan, Northern Iran between April 2006 and December 2009. The case group contained 33 newborns with oral clefts and the control group contained 63 healthy newborns. Clinical and demographic factors, including date of birth, gender of the newborns, type of oral cleft, consanguinity of the parents, parental ethnicity, and the mother's parity, age, education and intake of folic acid were recorded for analysis.  Results: A significant association was found between parity higher than 2 and the risk of an oral cleft (OR= 3.33, CI 95% [1.20, 9.19], P> 0.02. According to ethnicity, the odds ratio for oral clefts was 0.87 in Turkmens compared with Sistani people (CI 95% [0.25, 2.96] and 1.11 in native Fars people compared with Sistani people (CI 95% [0.38, 3.20]. A lack of folic acid consumption was associated with an increased risk of oral clefts but this was not statistically significant (OR = 1.42, CI 95% [0.58, 3.49]. There were no significant associations between sex (OR boy/girl = 0.96, CI 95% [0.41, 2.23], parent familial relations (OR = 1.07, CI 95% [0.43, 2.63], mother's age and oral clefts.  Conclusions:  The results of this study indicate that higher parity is significantly associated with an increased risk of an oral cleft, while Fars ethnicity and a low intake of folic acid increased the incidence of oral clefts but not significantly.

  5. Post-surgical dentofacial deformities and dental treatment needs in cleft-lip-palate children: A clinical study

    OpenAIRE

    V Krishna Priya; J Sharada Reddy; Ramakrishna, Y.; C Pujita Reddy

    2011-01-01

    Background: Cleft lip and palate is a common congenital defect. It is one of the most common facial deformities occurring in major racial and ethnic groups. Aims: The aim of the present study was to record the post-surgical dentofacial deformities in operated cleft lip and palate children, as well as to assess the multitude and magnitude of their dental and other related problems so as to formulate an appropriate treatment plan for complete oral rehabilitation of these children. Materials and...

  6. Alveolar bone grafting with simultaneous cleft lip rhinoplasty.

    Science.gov (United States)

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

    2016-11-01

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

  7. Clefting in pumpkin balloons

    Science.gov (United States)

    Baginski, F.; Schur, W.

    NASA's effort to develop a large payload, high altitude, long duration balloon, the Ultra Long Duration Balloon, focuses on a pumpkin shape super-pressure design. It has been observed that a pumpkin balloon may be unable to pressurize into the desired cyclically symmetric equilibrium configuration, settling into a distorted, undesired stable state instead. Hoop stress considerations in the pumpkin design leads to choosing the lowest possible bulge radius, while robust deployment is favored by a large bulge radius. Some qualitative understanding of design aspects on undesired equilibria in pumpkin balloons has been obtained via small-scale balloon testing. Poorly deploying balloons have clefts, but most gores away from the cleft deploy uniformly. In this paper, we present models for pumpkin balloons with clefts. Long term success of the pumpkin balloon for NASA requires a thorough understanding of the phenomenon of multiple stable equilibria and means for quantitative assessment of measures that prevent their occurrence. This paper attempts to determine numerical thresholds of design parameters that distinguish between properly deploying designs and improperly deploying designs by analytically investigating designs in the vicinity of criticality. Design elements which may trigger the onset undesired equilibria and remedial measures that ensure deployment are discussed.

  8. A comparative study of craniofacial morphology of parents with and without cleft lip and/or palate children

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Sug Young; Koh, Kwang Joon [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Chonbuk National University, Chonju (Korea, Republic of)

    1993-02-15

    The purpose of this study was to determine whether any difference existed in craniofacial morphology between parents of children with cleft lip and/or palate and parents of children without cleft lip and/or palate. Thirty three measurements of the various regions of cranium and face were obtained from lateral cephalometric radiograms in parents of 28 children with cleft lip and palate, 18 children with cleft lip, and 22 children with cleft palate. There were 28 couples and 40 single parents in this sample. There were 92 individuals including 41 males and 51 females. The measurements were compared with those in control subjects, including 40 adult males and 40 adult females, who had no history of craniofacial abnormalities. The total sample was compared for the sex independently. The obtained results were as follows. 1. In the cranium, both parents of cleft children had significantly shorter posterior cranial base length (S-Ba). 2. In the upper face, a significantly shorter anteroposterior length of maxilla (A'-Ptm'), particularly in the anterior region (A'-K'), anterior facial depth (A-SBaL), posterior facial height (Ptm'-SNL) and relation of subnasale to the cranial base (BaN{sup S}n) were noted in fathers of cleft children. But, all measurements were not found to be significantly different between experimental group and control group in all mothers. 3. In the lower face, both parents of cleft children showed a significantly greater Y axis angle (NSGn) and ramal plane angle (SNL-RP) in faters of cleft children. Thus both parents showed a posteriorly rotation of mandible. The thickness of the lower lip (B-B) was significantly thicker in fathers of cleft children. 4. In the facial profile, a significantly shorter posterior facial height (S-Go) and greater angle of soft tissue facial convexity (BaN'Pog') were noted in the fathers of cleft children. But, all measurements were not found to be significantly different between

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

    Science.gov (United States)

    Paradowska-Stolarz, Anna M; Kawala, Beata

    2015-01-01

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

  10. Communication disorders in individuals with cleft lip and palate: An overview

    Directory of Open Access Journals (Sweden)

    Nagarajan Roopa

    2009-10-01

    Full Text Available The need for an interdisciplinary approach in the comprehensive management of individuals with cleft lip and palate is well recognized. This article provides an introduction to communication disorders in individuals with cleft lip and palate for members of cleft care teams. The speech pathologist is involved in identifying those infants who are at risk for communication disorders and also for initiating early intervention to prevent or mitigate communication disorders caused by the cleft. Even with early cleft repair, some children exhibit ′cleft palate speech′ characterized by atypical consonant productions, abnormal nasal resonance, abnormal nasal airflow, altered laryngeal voice quality, and nasal or facial grimaces. These manifestations are evaluated to identify those that (a are developmental, (b can be corrected through speech therapy alone, and, (c those that may require both surgery and speech therapy. Speech is evaluated perceptually using several types of stimuli. It is important to identify compensatory and obligatory errors in articulation. When velopharyngeal dysfunction is suspected, the assessment should include at least one direct measure such as nasoendoscopy or videofluoroscopy. This provides information about the adequacy of the velopharyngeal valve for speech production, and is useful for planning further management of velopharyngeal dysfunction. The basic principle of speech therapy in cleft lip and palate is to establish the correct placement of the articulators and appropriate air flow. Appropriate feedback is important during therapy for establishing the correct patterns of speech.

  11. Facial swelling

    Science.gov (United States)

    ... help reduce facial swelling. When to Contact a Medical Professional Call your health care provider if you have: Sudden, painful, or severe facial ... or if you have breathing problems. The health care provider will ask about your medical and personal history. This helps determine treatment or ...

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

    Science.gov (United States)

    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.

  13. The Dehiscent Facial Nerve Canal

    Directory of Open Access Journals (Sweden)

    Sertac Yetiser

    2012-01-01

    Full Text Available Accidental injury to the facial nerve where the bony canal defects are present may result with facial nerve dysfunction during otological surgery. Therefore, it is critical to know the incidence and the type of facial nerve dehiscences in the presence of normal development of the facial canal. The aim of this study is to review the site and the type of such bony defects in 144 patients operated for facial paralysis, myringoplasty, stapedotomy, middle ear exploration for sudden hearing loss, and so forth, other than chronic suppurative otitis media with or without cholesteatoma, middle ear tumors, and anomaly. Correlation of intraoperative findings with preoperative computerized tomography was also analyzed in 35 patients. Conclusively, one out of every 10 surgical cases may have dehiscence of the facial canal which has to be always borne in mind during surgical manipulation of the middle ear. Computerized tomography has some limitations to evaluate the dehiscent facial canal due to high false negative and positive rates.

  14. An evaluation of surgical outcome of bilateral cleft lip surgery using a modified Millard′s (Fork Flap technique

    Directory of Open Access Journals (Sweden)

    W L Adeyemo

    2013-01-01

    Full Text Available Background: The central third of the face is distorted by the bilateral cleft of the lip and palate and restoring the normal facial form is one of the primary goals for the reconstructive surgeons. The history of bilateral cleft lip repair has evolved from discarding the premaxilla and prolabium and approximating the lateral lip elements to a definitive lip and primary cleft nasal repair utilising the underlying musculature. The aim of this study was to review surgical outcome of bilateral cleft lip surgery (BCLS done at the Lagos University Teaching Hospital. Materials and Methods: A review of all cases of BCLS done between January 2007 and December 2012 at the Lagos University Teaching Hospital was done. Data analysis included age and sex of patients, type of cleft deformity and type of surgery (primary or secondary and whether the cleft deformity was syndromic and non-syndromic. Techniques of repair, surgical outcome and complications were also recorded. Results: A total of 39 cases of BCLS involving 21 males and 18 females were done during the period. This constituted 10% (39/390 of all cases of cleft surgery done during the period. There were 5 syndromic and 34 non-syndromic cases. Age of patients at time of surgery ranged between 3 months and 32 years. There were 24 bilateral cleft lip and palate deformities and 15 bilateral cleft lip deformities. Thirty-one of the cases were primary surgery, while 8 were secondary (revision surgery. The most common surgical technique employed was modified Fork flap (Millard technique, which was employed in 37 (95% cases. Conclusion: Bilateral cleft lip deformity is a common cleft deformity seen in clinical practice, surgical repair of which can be a challenge to an experienced surgeon. A modified Fork flap technique for repair of bilateral cleft lip is a reliable and versatile technique associated with excellent surgical outcome.

  15. Three-Dimensional Assessment of Early Surgical Outcome in Repaired Unilateral Cleft Lip and Palate: Part 1. Nasal changes.

    LENUS (Irish Health Repository)

    Ayoub, Ashraf

    2010-08-11

    Abstract Objective: To evaluate 3D nasal morphology following primary reconstruction in children with unilateral cleft lip and palate relative to contemporaneous non-cleft data Design: Prospective, cross-sectional, controlled study. Setting: Glasgow Dental Hospital & School, Faculty of Medicine, Glasgow University Patients and Participants: Two groups of 3-year old children (21 with unilateral cleft lip and palate and 96 controls) with facial images taken using a 3D vision based capture technique. Methods: 3D images of the face were reflected so the cleft was on the left side to create a homogenous group for statistical analysis. Three-dimensional co-ordinates of anthropometric landmarks were extracted from facial images by a single operator. A set of linear measurements was utilised to compare cleft and control subjects on right and left sides, adjusting for sex differences Results: the mean nasal base width and the width of the nostril floor on right and left sides differed significantly between control and Unilateral Cleft Lip and Palate (UCLP) groups. The measurements were greater in UCLP children. The difference in the mean nasal height and mean nasal projection between the groups were not statistically significant. Mean columellar lengths were different between the left and right sides in UCLP cases. Conclusions: There were significant nasal deformities following the surgical repair of UCLP. Keywords: child, cleft lip and palate, three-dimensional imaging.

  16. Clinical Experience of Treatment of Facial Malformations in Oto-Palato-Digital Syndrome: A Familial Patient.

    Science.gov (United States)

    Kira-Koizumi, Tomoe; Mitsukawa, Nobuyuki; Morishita, Tadashi; Akita, Shinsuke; Kubota, Yoshitaka; Satoh, Kaneshige

    2017-06-01

    Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results. The mother had a milder phenotype with less prominent craniofacial defects that did not require surgical correction. The older brother required a 2-jaw surgery whereas the younger brother required a surgically assisted rapid palatal expansion. In the second series of operations, both brothers underwent scraping of their prominent supraorbital ridge. They have been free of complications throughout their 16-year follow-up. The authors also screened the family for possible genetic etiologies and identified mutations in the causative gene of OPD1 on Xq28 in all 3 patients. In conclusion, the authors have identified 3 patients with OPD1, performed surgical treatments on the affected brothers and have obtained good reconstructive results. There are no reports involving OPD1 patients who have received good surgical treatment. With careful examination and identification of patients with characteristic facies and skeletal abnormalities, it is our opinion that the authors can help more patients with this disease through surgical management.

  17. Late detection of cleft palate

    NARCIS (Netherlands)

    Hanny, K H; de Vries, I A C; Haverkamp, S J; Oomen, K P Q; Penris, W M; Eijkemans, M J C; Kon, M; Mink van der Molen, A B; Breugem, C C

    2016-01-01

    Cleft palate only (CPO) is a common congenital malformation, and most patients are diagnosed within the first weeks after birth. Late diagnosis of the cleft palate (CP) could initially result in feeding and growth impairment, and subsequently speech and hearing problems later in life. The purpose of

  18. Six years analysis of cleft palate in a university hospital center

    Directory of Open Access Journals (Sweden)

    Farahvash M

    1999-08-01

    Full Text Available Cleft palate is a congenital condition that occurs with the incidence rate of one out of 2000 births. This anomaly produces intraoral pressure changes (increase or decrease, can cause speech, sucking and feeding problems of involved patient. On the other hand, if cleft palate is associated with cleft of the lip or alveolar area, growth and alignment of teeth may change the appearance of the patient and affect the psychologic and occupational future of the patient. Eustatian tube malfunction in involved neonates increase. Many procedures are used to repair the cleft palate and correction of palatal muscles which are: 1 Von Langenbeck (18.5%. 2 Veau-Wardil-Kilner (72.5%. 3 Double opposing Z-Plasty (9%. In this research the demographic criteria of patients including age of the patient at operation rime (mean age 30.14 months, city of residence, family history of cleft palate (12.4%, familial relation of parents (15.2%, associated anomalies, complete or incomplete lesion, weight of patients at the time of surgery (mean 11.28 Kg, hemoglobin (11.3 mg/dl, complications, otitis media and the side of cleft palate are studied in 178 admitted patients to Imam General Hospital between 1989 and 1995.

  19. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    Science.gov (United States)

    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…

  20. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].

    Science.gov (United States)

    Sun, Jin-qiao; Wang, Lai-shuan; Qi, Chun-hua; Ying, Wen-jing; Guo, Xiao-hong; Liu, Dan-ru; Hui, Xiao-ying; Liu, Fang; Cao, Yun; Luo, Fei-hong; Wang, Xiao-chuan

    2012-12-01

    To investigate the clinical features and molecular diagnostic methods of three patients with DiGeorge anomaly. The clinical manifestations and immunological features of the three cases with DiGeorge anomaly were analyzed. We detected the chromosome 22q11.2 gene deletion by fluorescence in situ hybridization (FISH). (1) CLINICAL MANIFESTATIONS: All three cases had varying degrees of infection, congenital heart disease and small thymus by imaging; two cases had significant hypocalcemia (1.11 mmol/L and 1.22 mmol/L, respectively), accompanied by convulsions; only 1 case had cleft palate and all had no significant facial deformity. (2) Immunological characteristics: All three cases had varying degrees of T-cell immune function defects (percentage of T lymphocytes was 24% - 43%, absolute count was 309 - 803/µl), and levels of immunoglobulin G, A, M, and percent of B lymphocytes and absolute count were normal. (3) Detection of the chromosome 22q11.2 gene deletion: 400 cells of each case were detected. All cells showed two green and one red hybridization signal, indicating the presence of gene deletions in chromosome 22q11.2. (4) OUTCOME: All three cases were treated with thymosin, and appropriate clinical intervention for cardiac malformations, hypocalcemia, and were followed-up for 4 - 18 months, the prognosis was good. DiGeorge anomaly showed diverse clinical manifestations. We should consider the disease if patients had congenital heart disease, thymic hypoplasia, hypocalcemia and/or impaired immune function. FISH for detecting chromosome 22q11.2 gene deletion can be used as accurate and rapid diagnostic method. Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

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

    2016-01-01

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

  3. Facial anatomy.

    Science.gov (United States)

    Marur, Tania; Tuna, Yakup; Demirci, Selman

    2014-01-01

    Dermatologic problems of the face affect both function and aesthetics, which are based on complex anatomical features. Treating dermatologic problems while preserving the aesthetics and functions of the face requires knowledge of normal anatomy. When performing successfully invasive procedures of the face, it is essential to understand its underlying topographic anatomy. This chapter presents the anatomy of the facial musculature and neurovascular structures in a systematic way with some clinically important aspects. We describe the attachments of the mimetic and masticatory muscles and emphasize their functions and nerve supply. We highlight clinically relevant facial topographic anatomy by explaining the course and location of the sensory and motor nerves of the face and facial vasculature with their relations. Additionally, this chapter reviews the recent nomenclature of the branching pattern of the facial artery.

  4. Facial tics

    Science.gov (United States)

    Tic - facial; Mimic spasm ... Tics may involve repeated, uncontrolled spasm-like muscle movements, such as: Eye blinking Grimacing Mouth twitching Nose wrinkling Squinting Repeated throat clearing or grunting may also be ...

  5. Facial Recognition

    National Research Council Canada - National Science Library

    Mihalache Sergiu; Stoica Mihaela-Zoica

    2014-01-01

    .... From birth, faces are important in the individual's social interaction. Face perceptions are very complex as the recognition of facial expressions involves extensive and diverse areas in the brain...

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

    Directory of Open Access Journals (Sweden)

    Daniela Gamba Garib

    2015-10-01

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

  7. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant.

    Science.gov (United States)

    Hiremath, Vinuta Siddayya; Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-04-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle.

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

    Science.gov (United States)

    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.

  9. Facial dysostoses: Etiology, pathogenesis and management.

    Science.gov (United States)

    Trainor, Paul A; Andrews, Brian T

    2013-11-01

    Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. Here we describe recent advances in our understanding of the development of facial dysostosis with a view towards early in utero identification and intervention which could minimize the manifestation of anomalies prior to birth. The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis.

  10. PHACE syndrome in antenatally diagnosed posterior fossa anomaly

    Directory of Open Access Journals (Sweden)

    Seema Pavaman Sindgikar

    2014-01-01

    Full Text Available PHACE is a neurocutaneous syndrome, an acronym to describe patients with facial segmental hemangiomas and other malformations. We describe a newborn antenatally diagnosed to have posterior fossa anomaly and subsequently as PHACE syndrome.

  11. Anomaly holography

    Energy Technology Data Exchange (ETDEWEB)

    Gripaios, Ben [Rudolf Peierls Centre for Theoretical Physics, University of Oxford, 1 Keble Rd., Oxford OX1 3NP (United Kingdom); Merton College, Oxford OX1 4JD (United Kingdom)], E-mail: b.gripaios1@physics.ox.ac.uk; West, Stephen M. [Rudolf Peierls Centre for Theoretical Physics, University of Oxford, 1 Keble Rd., Oxford OX1 3NP (United Kingdom)], E-mail: s.west1@physics.ox.ac.uk

    2008-01-21

    We consider, in the effective field theory context, anomalies of gauge field theories on a slice of a five-dimensional, anti-de Sitter geometry and their four-dimensional, holographic duals. A consistent effective field theory description can always be found, notwithstanding the presence of the anomalies and without modifying the degrees of freedom of the theory. If anomalies do not vanish, the d=4 theory contains additional pseudoscalar states, which are either present in the low-energy theory as physical, light states, or are eaten by (would-be massless) gauge bosons. We show that the pseudoscalars ensure that global anomalies of the four-dimensional dual satisfy the 't Hooft matching condition and comment on the relevance for warped models of electroweak symmetry breaking.

  12. PHACE Syndrome: Persistent Fetal Vascular Anomalies: A Case Report

    OpenAIRE

    Prochazka, V.; Hrbac, T.; Chmelova, J.; Skoloudik, D.; M. Prochazka

    2005-01-01

    PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma...

  13. Microdeletion of chromosome 15q24.3-25.2 and orofacial clefting.

    Science.gov (United States)

    Sing, Bindya; Song, Dongli; DeSandre, Glenn; Govindaswami, Balaji; Rosenthal, Scott; Gunn, Shelly; Wallerstein, Robert

    2011-09-01

    We report a case of de novo microdeletion of 15q24.3-q25.2 in an infant with orofacial cleft and general hypotonia and suggest that this may be a critical region in orofacial development. In addition, this case highlights the usefulness of comparative genomic microarray in the evaluation of children with congenital anomalies with such defects.

  14. Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

    NARCIS (Netherlands)

    Gennery, A.R.; Slatter, M.A.; Bredius, R.G.; Hagleitner, M.M.; Weemaes, C.M.R.; Cant, A.J.; Lankester, A.C.

    2007-01-01

    Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by mutations in DNMT3B, a DNA methyltransferase

  15. Facial Sports Injuries

    Science.gov (United States)

    ... Find an ENT Doctor Near You Facial Sports Injuries Facial Sports Injuries Patient Health Information News media interested in ... should receive immediate medical attention. Prevention Of Facial Sports Injuries The best way to treat facial sports injuries ...

  16. Children and Facial Trauma

    Science.gov (United States)

    ... an ENT Doctor Near You Children and Facial Trauma Children and Facial Trauma Patient Health Information News ... staff at newsroom@entnet.org . What is facial trauma? The term facial trauma means any injury to ...

  17. Facial Cosmetic Surgery

    Science.gov (United States)

    ... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ...

  18. Facial Scar Revision: Understanding Facial Scar Treatment

    Science.gov (United States)

    ... a facial plastic surgeon Facial Scar Revision Understanding Facial Scar Treatment When the skin is injured from a cut or tear the body heals by forming scar tissue. The appearance of the scar can range from ...

  19. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki

    2016-01-01

    Full Text Available A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis.

  20. Facial blindsight

    Directory of Open Access Journals (Sweden)

    Marco eSolcà

    2015-09-01

    Full Text Available Blindsight denotes unconscious residual visual capacities in the context of an inability to consciously recollect or identify visual information. It has been described for color and shape discrimination, movement or facial emotion recognition. The present study investigates a patient suffering from cortical blindness whilst maintaining select residual abilities in face detection. Our patient presented the capacity to distinguish between jumbled/normal faces, known/unknown faces or famous people’s categories although he failed to explicitly recognize or describe them. Conversely, performance was at chance level when asked to categorize non-facial stimuli. Our results provide clinical evidence for the notion that some aspects of facial processing can occur without perceptual awareness, possibly using direct tracts from the thalamus to associative visual cortex, bypassing the primary visual cortex.

  1. Bilateral cleft lip nasal deformity

    OpenAIRE

    Singh Arun; Nandini R.

    2009-01-01

    Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the li...

  2. Quantification of negative aesthetic ratings in primary unrepaired unilateral cleft lip infants by modified paired comparison method.

    Science.gov (United States)

    Uchiyama, Takeshi; Kitamura, Nobutaka; Watanabe, Akira; Suga, Ken-Ichiro; Nakano, Yoko; Hitoshi, Ohhata; Takagiwa, Mutsumi

    2014-01-01

    To quantify negative aesthetic ratings in primary unrepaired cleft lip infants by further refining our previously reported paired comparison method. The Thurstone paired comparison method was used to quantify negative aesthetic ratings of plaster facial models selected and ordered according to a table of paired random numbers. A total of 30 facial models of unrepaired incomplete unilateral cleft lip infants were used in this study. Raters comprised 20 oral surgeons and anesthesiologists. Quantification of aesthetic ratings for the 30 face models of unrepaired incomplete unilateral cleft lip infants was obtained. The ratings ranged from 0 to 5.08. Quantification of the aesthetic ratings for the 30 face models will be used as objective variables in a multivariate analysis in the third stage of this ongoing study.

  3. Rating nasolabial appearance on three-dimensional images in cleft lip and palate: a comparison with standard photographs

    NARCIS (Netherlands)

    Stebel, A.; Desmedt, D.; Bronkhorst, E.M.; Kuijpers, M.A.; Fudalej, P.S.

    2016-01-01

    BACKGROUND/OBJECTIVE: Judgement of nasolabial aesthetics in cleft lip and palate (CLP) is a vital component of assessment of treatment outcome. It is usually performed based on two-dimensional (2D) facial photographs. An increasing use of three-dimensional (3D) imaging warrants an assessment if 3D

  4. One-stage (Warsaw) and two-stage (Oslo) repair of unilateral cleft lip and palate: Craniofacial outcomes

    NARCIS (Netherlands)

    Fudalej, P.S.; Wegrodzka, E.; Semb, G.; Hortis-Dzierzbicka, M.

    2015-01-01

    The aim of this study was to compare facial development in subjects with complete unilateral cleft lip and palate (CUCLP) treated with two different surgical protocols. Lateral cephalometric radiographs of 61 patients (42 boys, 19 girls; mean age, 10.9 years; SD, 1) treated consecutively in Warsaw w

  5. Rejuvenecimiento facial

    Directory of Open Access Journals (Sweden)

    L. Daniel Jacubovsky, Dr.

    2010-01-01

    Full Text Available El envejecimiento facial es un proceso único y particular a cada individuo y está regido en especial por su carga genética. El lifting facial es una compleja técnica desarrollada en nuestra especialidad desde principios de siglo, para revertir los principales signos de este proceso. Los factores secundarios que gravitan en el envejecimiento facial son múltiples y por ello las ritidectomías o lifting cérvico faciales descritas han buscado corregir los cambios fisonómicos del envejecimiento excursionando, como se describe, en todos los planos tisulares involucrados. Esta cirugía por lo tanto, exige conocimiento cabal de la anatomía quirúrgica, pericia y experiencia para reducir las complicaciones, estigmas quirúrgicos y revisiones secundarias. La ridectomía facial ha evolucionado hacia un procedimiento más simple, de incisiones más cortas y disecciones menos extensas. Las suspensiones musculares han variado en su ejecución y los vectores de montaje y resección cutánea son cruciales en los resultados estéticos de la cirugía cérvico facial. Hoy estos vectores son de tracción más vertical. La corrección de la flaccidez va acompañada de un interés en reponer el volumen de la superficie del rostro, en especial el tercio medio. Las técnicas quirúrgicas de rejuvenecimiento, en especial el lifting facial, exigen una planificación para cada paciente. Las técnicas adjuntas al lifting, como blefaroplastias, mentoplastía, lipoaspiración de cuello, implantes faciales y otras, también han tenido una positiva evolución hacia la reducción de riesgos y mejor éxito estético.

  6. Prevalence of cleft lip and/or palate in children from Lodz between years 1981-2010.

    Science.gov (United States)

    Antoszewski, Bogusław; Fijałkowska, Marta

    2016-03-01

    Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981-2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April 1997. The team has managed to obtain data, from the Registry, concerning the total number of all live born infants and the number of children with cleft lip and/or palate, who were born in Lodz, between 1998 and 2010. In years 1981-2010, 319 children, in 210 952 live born infants, were born with cleft lip and/or palate in Lodz. The isolated cleft palate was observed more frequently in girls and the unilateral cleft of lip and palate in boys. In all three decades palate clefts are more common whereas bilateral lip, alveolus and palate clefts are more infrequent. A small tendency to decrease in actual cleft lip and/or palate frequency among children, in the period of 30 years, is observed in Lodz. Over the years it has still been observed that the isolated cleft palate is the most common type of defect.

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

    Science.gov (United States)

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

    1999-10-01

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

  8. A rare report of mandibular facial talon cusp and its management

    Directory of Open Access Journals (Sweden)

    Sivakumar Nuvvula

    2014-01-01

    Full Text Available Talon cusp is an uncommon dental anomaly showing morphologically well delineated, accessory cusp-like structure projecting from cingulum to the incisal edge of anterior teeth. This anomaly is rare in the mandibular dentition and rarer on the facial aspect. A case of this infrequent entity of mandibular facial talon cusp and its management is reported here.

  9. Cleft lip and cleft palate relationship with familial marriage: a study in 136 cases

    Directory of Open Access Journals (Sweden)

    Azimi C

    2010-02-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Clefts of the lip and palate are one of the most common congenital birth anomalies. Genetic factors play a great role in the etiology of them and the high percentage of the consanguineous marriage of the parents of the affected persons is one of the reasons. These defects not only make abnormal changes on appearance of the neonate, but also make a lot of stress and psychological problems for the patients and their families. Study on the prevalence of clefts, their risk factors and also genetic counseling for affected persons and their families can be a guideline for general population and probably reduce these anomalies over the generations."n"nMethods: Patients referred to the Department of Genetics, Imam Khomeini Hospital, Tehran, Iran were studied. A total of 7374 pedigrees of all the patients admitted to the Department, were studied during 2002-2005 and 99 pedigrees with the patients with cleft lip± palate or isolated cleft palate were separated. The total number of cases among these 99 pedigrees was 136. The effects of consanguineous marriage, positive family history and sex were investigated among cases."n"nResults: 70.8% of patients with syndromic clefts and 58.7% of patients with nonsyndromic CL

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

    2015-09-01

    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.

  12. Is PRP useful in alveolar cleft reconstruction? Platelet-rich plasma in secondary alveoloplasty.

    Science.gov (United States)

    Luaces-Rey, Ramon; Arenaz-Búa, Jorge; Lopez-Cedrún-Cembranos, José-Luis; Herrero-Patiño, Susana; Sironvalle-Soliva, Sheyla; Iglesias-Candal, Emma; Pombo-Castro, María

    2010-07-01

    Cleft lip and palate is a congenital facial malformation with an established treatment protocol. Mixed dentition period is the best moment for correct maxillary bone defect with an alveoloplasty. The aim of this surgical procedure is to facilitate dental eruption, re-establish maxillary arch, close any oro-nasal communication, give support to nasal ala, and in some cases allow dental rehabilitation with osteointegrated implants. Twenty cleft patients who underwent secondary alveoloplasty were included. In 10 of them autogenous bone graft were used and in other 10 autogenous bone and platelet-rich plasma (PRP) obtained from autogenous blood. Bone formation was compared by digital orthopantomography made on immediate post-operatory and 3 and 6 months after the surgery. No significant differences were found between both therapeutic groups on bone regeneration. We do not find justified the use of PRP for alveoloplasty in cleft patients' treatment protocol.

  13. Passive Smoke Exposure as a Risk Factor for Oral Clefts-A Large International Population-Based Study.

    Science.gov (United States)

    Kummet, Colleen M; Moreno, Lina M; Wilcox, Allen J; Romitti, Paul A; DeRoo, Lisa A; Munger, Ronald G; Lie, Rolv T; Wehby, George L

    2016-05-01

    Maternal cigarette smoking is a well-established risk factor for oral clefts. Evidence is less clear for passive (secondhand) smoke exposure. We combined individual-level data from 4 population-based studies (the Norway Facial Clefts Study, 1996-2001; the Utah Child and Family Health Study, 1995-2004; the Norwegian Mother and Child Cohort Study, 1999-2009; and the National Birth Defects Prevention Study (United States), 1999-2007) to obtain 4,508 cleft cases and 9,626 controls. We categorized first-trimester passive and active smoke exposure. Multivariable logistic models adjusted for possible confounders (maternal alcohol consumption, use of folic acid supplements, age, body size, education, and employment, plus study fixed effects). Children whose mothers actively smoked had an increased risk of oral clefts (odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.11, 1.46). Children of passively exposed nonsmoking mothers also had an increased risk (OR = 1.14, 95% CI: 1.02, 1.27). Cleft risk was further elevated among babies of smoking mothers who were exposed to passive smoke (OR = 1.51, 95% CI: 1.35, 1.70). Using a large pooled data set, we found a modest association between first-trimester passive smoking and oral clefts that was consistent across populations, diverse study designs, and cleft subtypes. While this association may reflect subtle confounding or bias, we cannot rule out the possibility that passive smoke exposure during pregnancy is teratogenic.

  14. Median cleft of mandible and lower lip with ankyloglossia and ectopic minor salivary gland on tongue

    Directory of Open Access Journals (Sweden)

    Rana Roshani

    2004-01-01

    Full Text Available Median cleft of lower lip and mandible is a rare anomaly. This Cleft has also been described as Cleft No. 30 of Tessier′s classification. In minor forms only lower lip is cleft. Frequently, the cleft extends into the mandibular symphysis and the tongue is attached to the cleft alveolar margin. At times the tongue may be bifid or absent, hyoid absent, thyroid cartilage underdeveloped, strap muscles atrophic, manubrium sterni absent, clavicles widely spaced etc. The earliest report of this anomaly was by Couronne′ in 1819. Since then very few cases have been reported in literature with variations. We describe a male child who presented at the age of 6 months with an ectopic salivary gland on the dorsum of the tongue in addition to median cleft of lower lip, ankyloglossia and notching of the mandible. Excision of mass on dorsum of tongue, release of ankyloglossia and lip from the alveolus followed by repair was done. No bony work was done since the mandible was only notched. On post-operative follow-up at 18 months, dentition was delayed in both maxillary as well as mandibular teeth and there was a gap between the lower central incisors. At the age of 2 years 4 months, the dentition is still not complete and the gap between the lower central incisors is very apparent. There is a supernumerary upper central incisor on right side. There is no mobility between the two segments of mandible. Speech is normal. A regular follow-up will be done to study the eruption of permanent central incisors at the age of 7 years and till eruption of all permanent teeth to assess the occlusion and to decide whether any bony work is needed or not.

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

    Energy Technology Data Exchange (ETDEWEB)

    Stein, J.D.; Nelson, L.D.; Conner, B.J. [Univ. of Texas, Houston (United States)] [and others

    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, 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.

  16. Timing and sequence of primary tooth eruption in children with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Tatiana Yuriko Kobayashi

    2010-06-01

    Full Text Available OBJECTIVE: To determine the timing and sequence of eruption of primary teeth in children with complete bilateral cleft lip and palate. MATERIAL AND METHODS: This cross-sectional study was conducted at the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, Bauru, SP, Brazil, with a sample of 395 children (128 girls and 267 boys aged 0 to 48 months, with complete bilateral cleft lip and palate. RESULTS: Children with complete bilateral clefts presented a higher mean age of eruption of all primary teeth for both arches and both genders, compared to children without clefts. This difference was statistically signifcant for all teeth, except for the maxillary first molar. Mean age of eruption of most teeth was lower for girls compared to boys. The greatest delay was found for the maxillary lateral incisor, which was the eighth tooth of children with clefts of both genders. Analyzing by gender, the maxillary lateral incisor was the eighth tooth to erupt in girls and the last in boys. CONCLUSION: The results suggest an interference of the cleft on the timing and sequence of eruption of primary teeth.

  17. Considerations on morphological abnormalities of permanent teeth in children with cleft lip and palate.

    Science.gov (United States)

    Răducanu, Anca Maria; Didilescu, Andreea Cristiana; Feraru, Ion Victor; Dumitrache, Mihaela Adina; Hănţoiu, Tudor Alexandru; Ionescu, Ecaterina

    2015-01-01

    Oral clefts are commonly associated with dental anomalies of number, size, shape, structure, position and eruption affecting both dentitions. Dental malformations may affect the development, growth and functions of the dento-maxillary apparatus (chewing, aesthetics, speech). The purpose of this paper was to assess the dental morphological variations in a group of patients with cleft lip and/or palate (CLP), as compared with a group of healthy subjects. The study sample included 48 patients with various types of CLP (15 girls and 33 boys) aged between 12.6 years and 17.3 years. The control group (without CLP) consisted of 1447 patients (545 girls and 903 boys). The proportion of patients with dental shape anomalies in the control group was 8.6%, while the proportion of patients with dental shape anomalies in the CLP group was 56.3% (pdental hemiarch affected by CLP were most affected in their morphology.

  18. Growth-related changes of skeletal and upper-airway features in bilateral cleft lip and palate patients.

    Science.gov (United States)

    Akarsu-Guven, Bengisu; Karakaya, Jale; Ozgur, Figen; Aksu, Muge

    2015-10-01

    The craniofacial morphology of subjects with cleft lip and palate differs from that of subjects without clefts. Subjects with bilateral cleft lip and palate tend to have maxillary retrognathism, a smaller mandible with an obtuse gonial angle, greater anterior upper and lower facial heights, and retroclined maxillary incisors. The purposes of this research were to compare the skeletal and upper-airway features of subjects with bilateral cleft lip and palate with the same features in control subjects without clefts and to determine the growth-related changes at different growth stages. The sample comprised 212 subjects divided into 2 groups: 68 with bilateral cleft lip and palate, and 144 controls without clefts; each group was further divided into 4 subgroups according to growth stage using the cervical vertebral maturation stage method. The subgroups were defined as early childhood (stage 1), prepubertal (stage 2), pubertal (stage 3), and postpubertal (stage 4). The cephalometric variables were evaluated with 2-way analysis of variance and the Bonferroni test. Maxillary position showed no significant differences between the male groups. The maxilla was more prognathic at stage 2 and became more retrognathic at stages 3 and 4 in the females. The mandible was more retrusive in the bilateral cleft lip and palate subjects at stage 1 in males and at stages 3 and 4 in females. ANB was larger at stages 1 and 2, and it became similar to the controls at stages 3 and 4 in male and female bilateral cleft lip and palate subjects. Vertical growth was seen in the bilateral cleft lip and palate subjects regardless of sex, and no change was observed with age. Posterior airway space was narrower in all stages (except for stage 1 in females). Middle airway space was wider after stage 1 in the male and female bilateral cleft lip and palate subjects. Inferior airway space was narrower in the male bilateral cleft lip and palate patients at the early childhood and pubertal stages. Age

  19. Understanding Cleft and Craniofacial Team Care

    Science.gov (United States)

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Parents & Individuals Cleft Lip/Palate & Craniofacial Specialists in Your Area Team Disclaimer States: ...

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

    Science.gov (United States)

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

    2014-08-01

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

  1. Comparison of periodontal status among patients with cleft lip, cleft palate, and cleft lip along with a cleft in palate and alveolus

    OpenAIRE

    Boloor Vinita; Thomas Biju

    2010-01-01

    Background and Objectives : A healthy periodontium is an important prerequisite for unhindered dentition and long-term oral health. In cleft subjects, especially in those with cleft lip, alveolus and palate (CLAP), maintenance of oral hygiene is a difficult task for the patients because of the patent oro-nasal communication. Crowding of teeth in cleft patients is a common finding, especially in those with CLAP and those with cleft palate (CP). In the case of multiple tooth-malpositions , tran...

  2. Duplication of mental nerve in a patient with cleft lip-palate and rubella syndrome.

    Science.gov (United States)

    Goodday, R H; Precious, D S

    1988-02-01

    A case of duplication of the mental nerve in a patient with cleft lip, cleft palate, and rubella syndrome is presented. The most vulnerable period of fetal infection by rubella virus corresponds with the critical period of development of the maxilla, mandible, and corresponding orofacial structures. The significance of duplication of the mental nerve is discussed in relation to the influence that this anatomic structure has on the growth and development of the mandible. The concept of activisms to explain such anomalies is reviewed.

  3. Roberts-SC syndrome, a rare syndrome and cleft palate repair

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2008-01-01

    Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

  4. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    Institute of Scientific and Technical Information of China (English)

    LI Yang; XIONG Wan-lin; SHI Bing

    2006-01-01

    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

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

    Science.gov (United States)

    Justin, Grant A; Brietzke, Scott E

    2017-01-01

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

  6. Two cases of orbital dystopia: Tessier III cleft and craniofacial osteomas.

    Science.gov (United States)

    Furnas, D W; Achauer, B M

    1981-01-01

    Two cases of orbital dystopia are reported. One was caused by a Tessier III cleft and was treated by cranio-facial osteotomies of three walls of the orbit, allowing the left to be moved upward. The second involved multiple craniofacial osteomas and was treated by extractional osteotomies of four walls of the orbit including a transverse split of the roof. These osteotomies were entirely extramucosal.

  7. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

    Science.gov (United States)

    Shotelersuk, V; Tifft, C J; Vacha, S; Peters, K F; Biesecker, L G

    1999-09-17

    The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.

  8. [Team management of orofacial clefts].

    Science.gov (United States)

    Kuijpers-Jagtman, A M; Borstlap-Engels, V M; Spauwen, P H; Borstlap, W A

    2000-11-01

    In the Netherlands 15 centres provide multidisciplinary care for cleft lip and palate patients. Usually the following disciplines participate in such teams: paediatrics, plastic and reconstructive surgery, orthodontics, genetics, social work or nursing, ENT, speech therapy, maxillofacial surgery, prosthetic dentistry, psychology and oral hygiene. An overview is given of the treatment protocol from birth until 20 years of age for a child with a complete UCLP or BCLP. It is concluded that properly designed prospective clinical trials are rare, resulting in a lack of evidence based care in the field of cleft lip and palate. Furthermore it should be investigated whether it is preferable to centralise the cleft care in less centres than the present 15 ones.

  9. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  10. 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.

    Science.gov (United States)

    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.

  11. Cleft lip: The historical perspective

    Directory of Open Access Journals (Sweden)

    Bhattacharya S

    2009-10-01

    Full Text Available The earliest documented history of cleft lip is based on a combination of religion, superstition, invention and charlatanism. While Greeks ignored their existence, Spartans and Romans would kill these children as they were considered to harbour evil spirits. When saner senses prevailed Fabricius ab Aquapendente (1537-1619 was the first to suggest the embryological basis of these clefts. The knowledge of cleft lip and the surgical correction received a big boost during the period between the Renaissance and the 19th century with the publication of Pierre Franco′s Petit Traite and Traite des Hernies in which he described the condition as "lievre fendu de nativite" (cleft lip present from birth. The first documented Cleft lip surgery is from China in 390 BC in an 18 year old would be soldier, Wey Young-Chi. Albucasis of Arabia and his fellow surgeons used the cautery instead of the scalpel and Yperman in 1854 recommended scarifying the margins with a scalpel before suturing them with a triangular needle dipped in wax. The repair was reinforced by passing a long needle through the two sides of the lip and fixing the shaft of the needle with a figure-of-eight thread over the lip. Germanicus Mirault can be credited to be the originator of the triangular flap which was later modified by C.W. Tennison in 1952 and Peter Randall in 1959. In the late 50s, Ralph Millard gave us his legendary ′cut as you go′ technique. The protruding premaxilla of a bilateral cleft lip too has seen many changes throughout the ages - from being discarded totally to being pushed back by wedge resection of vomer to finally being left to the orthodontists.

  12. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

    Science.gov (United States)

    Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland; Bongers, Ernie; de Leeuw, Nicole; Pfundt, Rolph; Fannemel, Madeleine; Rødningen, Olaug; Brendehaug, Atle; Haukanes, Bjørn Ivar; Hovland, Randi; Helland, Gunnar; Houge, Gunnar

    2014-07-01

    MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development. We confirm and extend a recent single clinical report stating that deletions in MEIS2 can cause cleft palate [Crowley et al. (2010); Am J Med Genet 152A:1326-1327]. Here we report on five additional patients with 15q14 deletions of sizes 0.6, 0.6, 1.0, 1.9, and 4.8 Mb, respectively, all involving MEIS2. In addition, we present a family with four affected individuals and an intragenic 58 kb direct duplication disrupting MEIS2. In total, 7/9 cases had clefting, from mild (submucous cleft palate) to severe (cleft lip and palate), and 3/9 cases had ventricular septal defects. All cases had delayed motor development and most had learning disability, at worst in the mild intellectual disability range. The cases had overlapping facial features (broad forehead, finely arched eyebrows, mildly shortened philtrum, and tented upper lip) but individually they were not considered to be dysmorphic. Our results show that MEIS2 is a gene needed for palate closure. In syndromic cases of cleft palate, MEIS2 should be considered among the candidate genes, for example, in cases without 22q11.2 deletions.

  13. Paralisia facial periférica congênita familiar Familial congenital peripheral facial palsy

    Directory of Open Access Journals (Sweden)

    Ehrenfried O. Wittig

    1968-03-01

    Full Text Available Os autores referem 6 casos de paralisia facial periférica congênita que se sucederam em três gerações. O estudo genético sugere a atuação de um gen autosômico dominante. Na mesma família foram assinalados outras alterações congênitas (estrabismo, nistagmo. Um dos pacientes com paralisia facial (caso II-7 também apresentava micrognatia. Os pacientes com outras alterações congênitas não foram examinados adequadamente, não sendo possível, por isso, estbelecer relação etiológica entre esses achados e a paralisia facial.Six cases of congenital peripheral facial diplegia occurring in three generations are reported. The action of an autosomal dominant gene is suggested. In the same family were observed other congenital anomalies (strabismus, nistagmus. One of the patients with facial palsy had also micrognathy. Patients with other congenital anomalies but without facial palsy were examined not adequately; therefore it was impossible to correlate these findings with those concerning the facial palsy.

  14. What Is Expected of the Facial Nerve in Michel Aplasia? Anatomic Variation

    OpenAIRE

    2010-01-01

    We sought better understanding about the facial nerve anatomy in the rare inner ear Michel anomaly to help better define this aplasia and prevent potential complications in surgery on these patients. The data from computed tomography scans and magnetic resonance images of six Michel aplastic ears (three patients) were evaluated for a facial nerve course. Facial nerve course and anatomic landmarks were noted. Based on data obtained from this group of very rare patients, three different facial ...

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

    Science.gov (United States)

    Wahaj, Aiyesha; Ahmed, Imtiaz

    2015-11-01

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

  16. Oral cleft prevention program (OCPP

    Directory of Open Access Journals (Sweden)

    Wehby George L

    2012-11-01

    Full Text Available Abstract Background Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. Methods/design This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P, on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg to that of a historical control group. The study has been approved by IRBs (ethics committees of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. Discussion The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study

  17. Surgical treatment of cleft lip

    Directory of Open Access Journals (Sweden)

    Mateus Domingues Miachon

    Full Text Available We performed a systematic review of the literature on the surgical treatment of cleft lip, emphasizing the prevalence, complications associated with the treatment and the points of disagreement between authors. We conducted a literature cross-sectional search that analyzed publications in books, articles and on the databases SciELO - Scientific Electronic Library Online, PubMed, of the National Center for Biotechnology Information. We conclude that: 1 the severity of the cleft will indicate the technique presenting more advantages; 2 the different approaches indicate that there is no consensus on the optimal technique; and 3 the surgeon experience contributes to choosing the best option.

  18. Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.

    Science.gov (United States)

    Davies, A F; Stephens, R J; Olavesen, M G; Heather, L; Dixon, M J; Magee, A; Flinter, F; Ragoussis, J

    1995-01-01

    Orofacial clefting is genetically complex, no single gene being responsible for all forms. It can, however, result from a single gene defect either as part of a syndrome (e.g. van der Woude syndrome, Treacher-Collins syndrome, velo-cardio-facial syndrome) or as an isolated phenotypic effect (e.g. X-linked cleft palate; non-syndromic, autosomal dominant orofacial clefting). Several studies have suggested that chromosome 6p is a candidate region for a locus involved in orofacial clefting. We have used YAC clones from contigs in 6p25-p23 to investigate three unrelated cases of cleft lip and palate coincident with chromosome 6p abnormalities. Case 1 has bilateral cleft lip and palate and a balanced translocation reported as 46,XY,t(6,7)(p23;q36.1). Case 2 has multiple abnormalities including cleft lip and palate and was reported as 46,XX,del(6)(p23;pter). Case 3 has bilateral cleft lip and palate and carries a balanced translocation reported as 46,XX,t(6;9)(p23;q22.3). We have identified two YAC clones, both of which cross the breakpoint in cases 1 and 3 and are deleted in case 2. These clones map to 6p24.3 and therefore suggest the presence of a locus for orofacial clefting in this region. The HGP22 and AP2 genes, potentially involved in face formation, have been found to flank this region, while F13A maps further telomeric in 6p24.3/25.

  19. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine (Japan); Haga, Yoshihiko [Department of Orthopaedics, Shizuoka Children`s Hospital, Shizuoka (Japan); Aoki, Katsuhiko [Department of Radiology, Shizuoka Children`s Hospital, Shizuoka (Japan); Hasegawa, Tomoko [Division of Clinical Genetics, Shizuoka Children`s Hospital, Shizuoka (Japan)

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.) With 4 figs., 8 refs.

  20. Oral Clefts and Academic Performance in Adolescence

    DEFF Research Database (Denmark)

    Clausen, Nicola G; Pedersen, Dorthe A; Pedersen, Jacob K

    2017-01-01

    OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group......:   Oral cleft type rather than number and timing of anesthesia and operations associate to poorer academic performance. Although a potential neurotoxic effect due to anesthetic agents is not reflected in the data, it cannot be completely excluded....

  1. Presurgical nasoalveolar molding: A boon to facilitate the surgical repair in infants with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Prabhakar Ramasetty Attiguppe

    2016-01-01

    Full Text Available 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.

  2. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.

    Science.gov (United States)

    Ala-Mello, Sirpa; Siggberg, Linda; Knuutila, Sakari; von Koskull, Harriet; Taskinen, Mervi; Peippo, Maarit

    2008-10-01

    The oculoauriculovertebral anomaly (OAV) or Goldenhar syndrome is a malformation complex that has been described in several chromosomal rearrangements. Among them a deletion of the terminal 5p has recurred in seven previous patients. We wish to report on an additional such patient in order to reinforce the significance of this genomic region in the cause of at least a subgroup of OAV cases. Future studies, particularly in the OAV patients with a lateral facial cleft, might define one genetic background of the disorder. Our patient had a complex translocation chromosome 45,XX, inv(2) (q32q37)mat, dic(5;21) (p15.3;q22.3)dn, resulting in a terminal 5p deletion, a terminal deletion of 21q demonstrated by FISH studies, and a duplication of 21q22.11-q22.12 documented by molecular karyotyping. In addition to OAV she developed myelodysplasia treated with bone marrow transplantation. We discuss her clinical findings with reference to her karyotype findings and review the patients with OAV and a terminal deletion of 5p. Copyright 2008 Wiley-Liss, Inc.

  3. Pediatric facial nerve rehabilitation.

    Science.gov (United States)

    Banks, Caroline A; Hadlock, Tessa A

    2014-11-01

    Facial paralysis is a rare but severe condition in the pediatric population. Impaired facial movement has multiple causes and varied presentations, therefore individualized treatment plans are essential for optimal results. Advances in facial reanimation over the past 4 decades have given rise to new treatments designed to restore balance and function in pediatric patients with facial paralysis. This article provides a comprehensive review of pediatric facial rehabilitation and describes a zone-based approach to assessment and treatment of impaired facial movement.

  4. The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.

    Science.gov (United States)

    Gowans, Lord Jephthah Joojo; Busch, Tamara D; Mossey, Peter A; Eshete, Mekonen A; Adeyemo, Wasiu L; Aregbesola, Babatunde; Donkor, Peter; Arthur, Fareed K N; Agbenorku, Pius; Olutayo, James; Twumasi, Peter; Braimah, Rahman; Oti, Alexander A; Plange-Rhule, Gyikua; Obiri-Yeboah, Solomon; Abate, Fikre; Hoyte-Williams, Paa E; Hailu, Taye; Murray, Jeffrey C; Butali, Azeez

    2017-03-01

    Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants in IRF6 in orofacial clefts cohorts from Africa. We carried out Sanger Sequencing on DNA from 184 patients with nonsyndromic orofacial clefts and 80 individuals with multiple congenital anomalies that presented with orofacial clefts. We sequenced all the nine exons of IRF6 as well as the 5' and 3' untranslated regions. In our analyses pipeline, we used various bioinformatics tools to detect and describe the potentially etiologic variants. We observed that potentially etiologic exonic and splice site variants were nonrandomly distributed among the nine exons of IRF6, with 92% of these variants occurring in exons 4 and 7. Novel variants were also observed in both nonsyndromic orofacial clefts (p.Glu69Lys, p.Asn185Thr, c.175-2A>C and c.1060+26C>T) and multiple congenital anomalies (p.Gly65Val, p.Lys320Asn and c.379+1G>T) patients. Our data also show evidence of compound heterozygotes that may modify phenotypes that emanate from IRF6 variants. This study demonstrates that exons 4 and 7 of IRF6 are mutational 'hotspots' in our cohort and that IRF6 mutants-induced orofacial clefts may be prevalent in the Africa population, however, with variable penetrance and expressivity. These observations are relevant for detection of high-risk families as well as genetic counseling. In conclusion, we have shown that there may be a need to combine both molecular and clinical evidence in the grouping of orofacial clefts into syndromic and nonsyndromic forms.

  5. Maxillary Expansion and Midline Correction by Asymmetric Transverse Distraction Osteogenesis in a Patient With Unilateral Cleft Lip/Palate: A Case Report.

    Science.gov (United States)

    Shintaku, Yuko; Tanikawa, Chihiro; Iida, Seiji; Aikawa, Tomonao; Kogo, Mikihiko; Yamashiro, Takashi

    2015-09-01

    This case report presents the management of a female patient with unilateral cleft lip and palate presenting with skeletal Class III malocclusion and a narrow upper dental arch with a midline deviation. The treatment plan involved asymmetric transverse distraction osteogenesis of the maxilla to make the upper dental midline coincident with the facial midline. After the treatment, a good facial profile and a close intercuspation of teeth were achieved. Occlusion remained stable with normal overjet and overbite after 2-year retention.

  6. Simulating clefts in pumpkin balloons

    Science.gov (United States)

    Baginski, Frank; Brakke, Kenneth

    2010-02-01

    The geometry of a large axisymmetric balloon with positive differential pressure, such as a sphere, leads to very high film stresses. These stresses can be significantly reduced by using a tendon re-enforced lobed pumpkin-like shape. A number of schemes have been proposed to achieve a cyclically symmetric pumpkin shape, including the constant bulge angle (CBA) design, the constant bulge radius (CBR) design, CBA/CBR hybrids, and NASA’s recent constant stress (CS) design. Utilizing a hybrid CBA/CBR pumpkin design, Flight 555-NT in June 2006 formed an S-cleft and was unable to fully deploy. In order to better understand the S-cleft phenomenon, a series of inflation tests involving four 27-m diameter 200-gore pumpkin balloons were conducted in 2007. One of the test vehicles was a 1/3-scale mockup of the Flight 555-NT balloon. Using an inflation procedure intended to mimic ascent, the 1/3-scale mockup developed an S-cleft feature strikingly similar to the one observed in Flight 555-NT. Our analysis of the 1/3-scale mockup found it to be unstable. We compute asymmetric equilibrium configurations of this balloon, including shapes with an S-cleft feature.

  7. Facial Scar Revision: Understanding Facial Scar Treatment

    Science.gov (United States)

    ... more to fully heal and achieve maximum improved appearance. Facial plastic surgery makes it possible to correct facial flaws that can undermine self-confidence. Changing how your scar looks can help change ...

  8. Facial attractiveness: General patterns of facial preferences

    National Research Council Canada - National Science Library

    Kościński, Krzysztof

    2007-01-01

    This review covers universal patterns in facial preferences. Facial attractiveness has fascinated thinkers since antiquity, but has been the subject of intense scientific study for only the last quarter of a century...

  9. Microdeletion del(22(q12.2 encompassing the facial development-associated gene, MN1 (meningioma 1 in a child with Pierre-Robin sequence (including cleft palate and neurofibromatosis 2 (NF2: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Davidson Tom B

    2012-03-01

    Full Text Available Abstract Background Pierre-Robin sequence (PRS is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2 is an autosomal dominant syndrome caused by mutations in the NF2 gene on chromosome 22q12.2. NF2 is characterized by bilateral vestibular schwannomas, spinal cord schwannomas, meningiomas and ependymomas, and juvenile cataracts. To date, NF2 and PRS have not been described together in the same patient. Case presentation We report a female with PRS (micrognathia, cleft palate, microcephaly, ocular hypertelorism, mental retardation and bilateral hearing loss, who at age 15 was also diagnosed with severe NF2 (bilateral cerebellopontine schwannomas and multiple extramedullary/intradural spine tumors. This is the first published report of an individual with both diagnosed PRS and NF2. High resolution karyotype revealed 46, XX, del(22(q12.1q12.3, FISH confirmed a deletion encompassing NF2, and chromosomal microarray identified a 3,693 kb deletion encompassing multiple genes including NF2 and MN1 (meningioma 1. Five additional patients with craniofacial dysmorphism and deletion in chromosome 22-adjacent-to or containing NF2 were identified in PubMed and the DECIPHER clinical chromosomal database. Their shared chromosomal deletion encompassed MN1, PITPNB and TTC28. MN1, initially cloned from a patient with meningioma, is an oncogene in murine hematopoiesis and participates as a fusion gene (TEL/MN1 in human myeloid leukemias. Interestingly, Mn1-haploinsufficient mice have abnormal skull development and secondary cleft palate. Additionally, Mn1 regulates maturation and function of calvarial osteoblasts and is an upstream regulator of Tbx22, a gene associated with murine and human cleft palate. This suggests that deletion of MN1 in the six patients we describe may be causally linked to their cleft palates and/or craniofacial

  10. [Surgical facial reanimation after persisting facial paralysis].

    Science.gov (United States)

    Pasche, Philippe

    2011-10-01

    Facial reanimation following persistent facial paralysis can be managed with surgical procedures of varying complexity. The choice of the technique is mainly determined by the cause of facial paralysis, the age and desires of the patient. The techniques most commonly used are the nerve grafts (VII-VII, XII-VII, cross facial graft), dynamic muscle transfers (temporal myoplasty, free muscle transfert) and static suspensions. An intensive rehabilitation through specific exercises after all procedures is essential to archieve good results.

  11. Bilateral cleft lip nasal deformity

    Directory of Open Access Journals (Sweden)

    Singh Arun

    2009-01-01

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

  12. Facial porokeratosis.

    Science.gov (United States)

    Carranza, Dafnis C; Haley, Jennifer C; Chiu, Melvin

    2008-01-01

    A 34-year-old man from El Salvador was referred to our clinic with a 10-year history of a pruritic erythematous facial eruption. He reported increased pruritus and scaling of lesions when exposed to the sun. He worked as a construction worker and admitted to frequent sun exposure. Physical examination revealed well-circumscribed erythematous to violaceous papules with raised borders and atrophic centers localized to the nose (Figure 1). He did not have lesions on the arms or legs. He did not report a family history of similar lesions. A biopsy specimen was obtained from the edge of a lesion on the right ala. Histologic examination of the biopsy specimen showed acanthosis of the epidermis with focal invagination of the corneal layer and a homogeneous column of parakeratosis in the center of that layer consistent with a cornoid lamella (Figure 2). Furthermore, the granular layer was absent at the cornoid lamella base. The superficial dermis contained a sparse, perivascular lymphocytic infiltrate. No evidence of dysplasia or malignancy was seen. These findings supported a diagnosis of porokeratosis. The patient underwent a trial of cryotherapy with moderate improvement of the facial lesions.

  13. Secondary bone grafting for alveolar cleft in children with cleft lip or cleft lip and palate

    NARCIS (Netherlands)

    Guo, J.; Li, C.; Zhang, Q.; Wu, G.; Deacon, S.A.; Chen, J.; Hu, H.; Zou, S.; Ye, Q.

    2011-01-01

    BACKGROUND: Secondary alveolar bone grafting has been widely used to reconstruct alveolar cleft. However, there is still some controversy. OBJECTIVES: To compare the effectiveness and safety of different secondary bone grafting methods. SEARCH STRATEGY: The final electronic and handsearches were car

  14. Comparison of periodontal status among patients with cleft lip, cleft palate, and cleft lip along with a cleft in palate and alveolus

    Directory of Open Access Journals (Sweden)

    Boloor Vinita

    2010-01-01

    Full Text Available Background and Objectives : A healthy periodontium is an important prerequisite for unhindered dentition and long-term oral health. In cleft subjects, especially in those with cleft lip, alveolus and palate (CLAP, maintenance of oral hygiene is a difficult task for the patients because of the patent oro-nasal communication. Crowding of teeth in cleft patients is a common finding, especially in those with CLAP and those with cleft palate (CP. In the case of multiple tooth-malpositions , transverse deficiency, arch length deficiency and primary cross-bite; periodontal trauma increases and is detrimental to periodontal health . According to literature, a critical periodontal situation was found in patients with CLAP. Hence a study was conducted to analyze the periodontal status of patients with cleft lip (CL; those with cleft palate; and those with cleft lip, alveolus and palate. Materials and Methods: The present study consisted of 60 cleft subjects divided into 3 groups: those with cleft lip; those with cleft palate; and those with cleft lip, alveolus and palate. Subjects with permanent dentition were selected, and the clinical examination included determination of oral hygiene status using Oral Hygiene Index - Simplified (OHI-S index and periodontal status using community periodontal index (CPI. Results: Statistically significant increase in the periodontal disease in the CLAP group as compared with the other 2 groups, and the oral hygiene was seen to be generally poor with the CLAP group. Interpretation and Conclusion: Individuals with clefts are more prone to periodontal disease due to the presence of cleft, which causes retention of food in the defect sites and inability to maintain good oral hygiene; but the severity of periodontal disease is more if the defect is large and involving the lip, alveolus and palate.

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

    Directory of Open Access Journals (Sweden)

    Aditi Jindal

    2011-01-01

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

  16. 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.

    Science.gov (United States)

    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.

  17. Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Pedersen, Jacob Krabbe;

    2010-01-01

    Our objective in this Danish population-based cohort study was to estimate the recurrence risk of isolated oral cleft (OC) for offspring of the unaffected co-twins of OC discordant twin pairs and to compare this risk to the recurrence risk in the offspring of the affected co-twin as well...... as to the risk in the background population. During 1936-2004, 207 twin pairs were ascertained, among whom at least one twin had an OC. The index persons were twins discordant for OC who had children (N=117), and their offspring (N=239). The participants were ascertained by linkage between The Danish Facial...... Cleft Database, The Danish Twin Registry and The Danish Civil Registration System. In the study OC recurrence risk for offspring of the affected and unaffected twin and relative risk were compared to the background prevalence. We found that among 110 children of the 54 OC affected twins, two (1...

  18. Measuring Facial Movement

    Science.gov (United States)

    Ekman, Paul; Friesen, Wallace V.

    1976-01-01

    The Facial Action Code (FAC) was derived from an analysis of the anatomical basis of facial movement. The development of the method is explained, contrasting it to other methods of measuring facial behavior. An example of how facial behavior is measured is provided, and ideas about research applications are discussed. (Author)

  19. Genetics Home Reference: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

    Science.gov (United States)

    ... Home Health Conditions AEC syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Enable Javascript to view the expand/ ... mouth (a cleft palate ), a split in the lip (a cleft lip ), or both. Cleft lip or cleft palate ...

  20. Facial Recognition

    Directory of Open Access Journals (Sweden)

    Mihalache Sergiu

    2014-05-01

    Full Text Available During their lifetime, people learn to recognize thousands of faces that they interact with. Face perception refers to an individual's understanding and interpretation of the face, particularly the human face, especially in relation to the associated information processing in the brain. The proportions and expressions of the human face are important to identify origin, emotional tendencies, health qualities, and some social information. From birth, faces are important in the individual's social interaction. Face perceptions are very complex as the recognition of facial expressions involves extensive and diverse areas in the brain. Our main goal is to put emphasis on presenting human faces specialized studies, and also to highlight the importance of attractiviness in their retention. We will see that there are many factors that influence face recognition.

  1. Dental Care for a Child with Cleft Lip and Palate

    Science.gov (United States)

    ... Volunteer Efforts Dental Care for a Child with Cleft Lip and Palate skip to submenu Parents & Individuals Information for Parents & ... version of this factsheet, click here How does cleft lip/palate affect the teeth? A cleft of the lip, ...

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

    Science.gov (United States)

    ... here What treatment is available for adults with cleft lip and palate? Treatments currently available to infants and children with cleft lip and palate are also available to adults with clefts. Although ...

  3. Congenital Tracheal Stenosis in a Patient with Cleft Lip | Qureshi ...

    African Journals Online (AJOL)

    Congenital Tracheal Stenosis in a Patient with Cleft Lip. ... of the distal trachea, in addition to a right sided cleft lip without cleft palate. Management of CTS depends on several factors, with surgery being the definitive form of treatment.

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

    Science.gov (United States)

    ... here What treatment is available for adults with cleft lip and palate? Treatments currently available to infants and children with cleft lip and palate are also available to adults with clefts. Although ...

  5. Comparison of dental arch dimensions in models of preschool children with cleft lip/palate repaired by means of surgery alone versus controls.

    Science.gov (United States)

    Burhan, Ahmad S; Nawaya, Fehmieh R

    2016-09-01

    Cleft lip and palate (CLP) anomaly is one of the most prevalent congenital defects causing disturbances of dental arch dimensions. This study aimed at investigating differences in these dimensions between preschool children with cleft lip/palate and a matched control group representing healthy individuals with normal occlusion (NO). The sample of this cross-sectional analytical study consisted of 108 plaster models of children aged from 4 to 5.5 years. They were divided into five groups: the cleft lip group, the cleft palate (CP) group, the unilateral cleft lip and palate group, the bilateral cleft lip and palate group, and the NO group. The NO group was used as a control group. All cleft-affected children were treated only with surgery. Dental arch length and widths were measured. The dental arch dimensions of the cleft lip group were nearly similar to those in the controls. Moreover, the mandibular transverse widths of the CP group were close to those in the controls. However, the mandibular arch length and all maxillary dimensions of the CP group were smaller than those in the controls. In the unilateral cleft lip and palate group, the arch lengths in both jaws and the maxillary transverse widths were smaller than those in the controls, whereas the mandibular transverse widths were similar to those in the controls. In the bilateral cleft lip and palate group, the arch lengths in both jaws were close to those in the controls, but both arches were narrower than those in the controls. The various types of CLP were found to be associated with differences in most maxillary and some mandibular arch dimensions. These data can be used for cleft patient counseling and treatment planning.

  6. FOXE1 Association with both Isolated Cleft Lip with or without Cleft Palate; and Isolated Cleft Palate

    DEFF Research Database (Denmark)

    Moreno, Lina M; Mansilla, Maria Adela; Bullard, Steve A

    2009-01-01

    Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we......) and rs4460498 (p=6.51E-12) were located inside a 70Kb high LD block containing FOXE1. Association signals for Caucasians and Asians clustered 5' and 3' of FOXE1, respectively. Isolated cleft palate (CP) was also associated indicating that FOXE1 plays a role in two phenotypes thought to be genetically...

  7. [Peripheral facial nerve palsy].

    Science.gov (United States)

    Pons, Y; Ukkola-Pons, E; Ballivet de Régloix, S; Champagne, C; Raynal, M; Lepage, P; Kossowski, M

    2013-06-01

    Facial palsy can be defined as a decrease in function of the facial nerve, the primary motor nerve of the facial muscles. When the facial palsy is peripheral, it affects both the superior and inferior areas of the face as opposed to central palsies, which affect only the inferior portion. The main cause of peripheral facial palsies is Bell's palsy, which remains a diagnosis of exclusion. The prognosis is good in most cases. In cases with significant cosmetic sequelae, a variety of surgical procedures are available (such as hypoglossal-facial anastomosis, temporalis myoplasty and Tenzel external canthopexy) to rehabilitate facial aesthetics and function.

  8. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad - Iran

    Directory of Open Access Journals (Sweden)

    Morteza Noorollahian

    2015-01-01

    Full Text Available Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%; frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively. Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics.

  9. X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia.

    Directory of Open Access Journals (Sweden)

    Astanand Jugessur

    Full Text Available BACKGROUND: Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis of X-linked markers. METHODOLOGY/PRINCIPAL FINDINGS: We added new functionalities in the HAPLIN statistical software to enable association analysis of X-linked markers and an exploration of various causal scenarios relevant to orofacial clefts. Genotypes for 48 SNPs in 18 candidate genes on the X chromosome were analyzed in two population-based samples from Scandinavia (562 Norwegian and 235 Danish case-parent triads. For haplotype analysis, we used a sliding-window approach and assessed isolated cleft lip with or without cleft palate (iCL/P separately from isolated cleft palate only (iCPO. We tested three statistical models in HAPLIN, allowing for: i the same relative risk in males and females, ii sex-specific relative risks, and iii X-inactivation in females. We found weak but consistent associations with the oral-facial-digital syndrome 1 (OFD1 gene (formerly known as CXORF5 in the Danish iCL/P samples across all models, but not in the Norwegian iCL/P samples. In sex-specific analyses, the association with OFD1 was in male cases only. No analyses showed associations with iCPO in either the Norwegian or the Danish sample. CONCLUSIONS: The association of OFD1 with iCL/P is plausible given the biological relevance of this gene. However, the lack of replication in the Norwegian samples highlights the need to verify these preliminary findings in other large datasets. More generally, the novel analytic methods presented here are widely applicable to investigations of the role of X-linked genes in complex traits.

  10. X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia.

    Science.gov (United States)

    Jugessur, Astanand; Skare, Øivind; Lie, Rolv T; Wilcox, Allen J; Christensen, Kaare; Christiansen, Lene; Nguyen, Truc Trung; Murray, Jeffrey C; Gjessing, Håkon K

    2012-01-01

    Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis of X-linked markers. We added new functionalities in the HAPLIN statistical software to enable association analysis of X-linked markers and an exploration of various causal scenarios relevant to orofacial clefts. Genotypes for 48 SNPs in 18 candidate genes on the X chromosome were analyzed in two population-based samples from Scandinavia (562 Norwegian and 235 Danish case-parent triads). For haplotype analysis, we used a sliding-window approach and assessed isolated cleft lip with or without cleft palate (iCL/P) separately from isolated cleft palate only (iCPO). We tested three statistical models in HAPLIN, allowing for: i) the same relative risk in males and females, ii) sex-specific relative risks, and iii) X-inactivation in females. We found weak but consistent associations with the oral-facial-digital syndrome 1 (OFD1) gene (formerly known as CXORF5) in the Danish iCL/P samples across all models, but not in the Norwegian iCL/P samples. In sex-specific analyses, the association with OFD1 was in male cases only. No analyses showed associations with iCPO in either the Norwegian or the Danish sample. The association of OFD1 with iCL/P is plausible given the biological relevance of this gene. However, the lack of replication in the Norwegian samples highlights the need to verify these preliminary findings in other large datasets. More generally, the novel analytic methods presented here are widely applicable to investigations of the role of X-linked genes in complex traits.

  11. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad — Iran

    Science.gov (United States)

    Noorollahian, Morteza; Nematy, Mohsen; Dolatian, Atiyeh; Ghesmati, Hengameh; Akhlaghi, Saeed; Khademi, Gholam Reza

    2015-01-01

    Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H) Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%); frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively). Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics. PMID:26712297

  12. Intraoperative and early postoperative complications using the buccal fat pad during cleft palate surgery in East Indonesia

    Directory of Open Access Journals (Sweden)

    Eveline Vere Konijnendijk

    2016-06-01

    Full Text Available Six baby’s with cleft are born in Indonesia every hour. There is no standardized treatment of cleft in East Indonesia. Closure is an important aspect during cleft lip and palate surgery. Various techniques have been advocated to gain tissue for closure of cleft area. Mostly these techniques may only provide a small amount of additional length. For lager defects they may be use the local flaps or the buccal fat pad flap. The aim of this study is gain more information about intraoperative and early postoperative complications using the buccal fat pat during cleft palate surgery in East Indonesia. The mouth can be divided in six parts therefor the LAHSAL index will be used. This LAHSAL system is a diagrammatic classification of cleft lip and palate. The LAHSAL system is being used for this study as this system classifies the cleft primarily on location and also on the cleft being complete or incomplete, which can be significant for the research. After diagnosis and classification, the following patient data was obtained: patient age, weight, gender, type of surgery (primary or following, i.e. when the surgery is a correction of a previous treatment, if a bone graft is needed for closure, history of maxillofacial surgery or orthodontics, operation technique, operation duration, type of an aesthesia (local or general, radiographical records and light photos. These data were collected during the pre-operative consultation, about 24 hours before surgery. It was the policy of the team to admit and see all patients one day prior to surgery for counselling, postoperative instructions and evaluating the patient's facial defect.

  13. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2015-01-01

    Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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

  17. 20 years of cleft lip and palate missions.

    Science.gov (United States)

    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.

  18. 20 years of cleft lip and palate missions

    Science.gov (United States)

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

    2014-01-01

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

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

    Science.gov (United States)

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

    1988-07-01

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

  20. Improving Informed Consent for Cleft Palate Repair

    Science.gov (United States)

    2016-09-22

    Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

  1. Separation of mouse embryonic facial ectoderm and mesenchyme.

    Science.gov (United States)

    Li, Hong; Williams, Trevor

    2013-04-12

    Orofacial clefts are the most frequent craniofacial defects, which affect 1.5 in 1,000 newborns worldwide. Orofacial clefting is caused by abnormal facial development. In human and mouse, initial growth and patterning of the face relies on several small buds of tissue, the facial prominences. The face is derived from six main prominences: paired frontal nasal processes (FNP), maxillary prominences (MxP) and mandibular prominences (MdP). These prominences consist of swellings of mesenchyme that are encased in an overlying epithelium. Studies in multiple species have shown that signaling crosstalk between facial ectoderm and mesenchyme is critical for shaping the face. Yet, mechanistic details concerning the genes involved in these signaling relays are lacking. One way to gain a comprehensive understanding of gene expression, transcription factor binding, and chromatin marks associated with the developing facial ectoderm and mesenchyme is to isolate and characterize the separated tissue compartments. Here we present a method for separating facial ectoderm and mesenchyme at embryonic day (E) 10.5, a critical developmental stage in mouse facial formation that precedes fusion of the prominences. Our method is adapted from the approach we have previously used for dissecting facial prominences. In this earlier study we had employed inbred C57BL/6 mice as this strain has become a standard for genetics, genomics and facial morphology. Here, though, due to the more limited quantities of tissue available, we have utilized the outbred CD-1 strain that is cheaper to purchase, more robust for husbandry, and tending to produce more embryos (12-18) per litter than any inbred mouse strain. Following embryo isolation, neutral protease Dispase II was used to treat the whole embryo. Then, the facial prominences were dissected out, and the facial ectoderm was separated from the mesenchyme. This method keeps both the facial ectoderm and mesenchyme intact. The samples obtained using this

  2. Early secondary alveoloplasty in cleft lip and palate.

    Science.gov (United States)

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

    2008-09-01

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

  3. Influence of lip closure on alveolar cleft width in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Schmelzle Rainer

    2011-01-01

    Full Text Available Abstract Background The influence of surgery on growth and stability after treatment in patients with cleft lip and palate are topics still under discussion. The aim of the present study was to investigate the influence of early lip closure on the width of the alveolar cleft using dental casts. Methods A total of 44 clefts were investigated using plaster casts, 30 unilateral and 7 bilateral clefts. All infants received a passive molding plate a few days after birth. The age at the time of closure of the lip was 2.1 month in average (range 1-6 months. Plaster casts were obtained at the following stages: shortly after birth, prior to lip closure, prior to soft palate closure. We determined the width of the alveolar cleft before lip closure and prior to soft palate closure measuring the alveolar cleft width from the most lateral point of the premaxilla/anterior segment to the most medial point of the smaller segment. Results After lip closure 15 clefts presented with a width of 0 mm, meaning that the mucosa of the segments was almost touching one another. 19 clefts showed a width of up to 2 mm and 10 clefts were still over 2 mm wide. This means a reduction of 0% in 5 clefts, of 1-50% in 6 clefts, of 51-99% in 19 clefts, and of 100% in 14 clefts. Conclusions Early lip closure reduces alveolar cleft width. In most cases our aim of a remaining cleft width of 2 mm or less can be achieved. These are promising conditions for primary alveolar bone grafting to restore the dental bony arch.

  4. Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management.

    Science.gov (United States)

    Ysunza, Antonio; Carmen Pamplona, Maria; Santiago Morales, M A

    2011-10-01

    Velocardiofacial syndrome (VCFS) is the most common genetic syndrome associated with cleft palate. There are reports describing several anomalies associated with the palatal cleft in patients with VCFS, which can affect the characteristics of the velopharyngeal insufficiency (VPI) in these cases. The purpose of this study is to assess velopharyngeal sphincter function during speech, using videonasopharyngoscopy (VNP) and videofluoroscopy (VF), in patients with VCFS, as compared with patients with non-syndromic palatal clefts (NSCP). Twenty patients with VCFS corroborated by a FISH test were studied. All patients showed a palatal cleft. All patients had received previous management including speech therapy and palatal repair. These patients underwent a thorough clinical speech evaluation, including VNP and VF. Twenty patients with NSCP matched by sex, type of cleft and within the age range of the patients with VCFS were studied as controls. From the patients with VCFS, seventeen patients showed a submucous cleft palate. Three patients showed sub-total cleft of the secondary palate. Fourteen patients (70%) showed a coronal velopharyngeal closure pattern. Six patients (30%) showed a circular pattern. In contrast, 10 patients (50%) from the NSCP group showed a circular pattern, two of them showed a Passavant's ridge. Seven patients (35%) showed a coronal pattern and 3 patients (15%) showed a saggital pattern. Mean velum (V) and lateral pharyngeal wall (LPW) motion were significantly decreased in patients with VCFS (V=46% vs 71%; LPW=14% vs 30%; Pspeech was significantly increased in patients with VCFS (34.57% vs 67.37%; Pspeech is significantly different in patients with VCFS as compared with patients with NSCP. Several anomalies associated with the palatal cleft in patients with VCFS can explain these differences. Thus, the surgical approach for repairing a palatal cleft should consider these differences. Moreover, surgical planning should be performed according to

  5. Anomaly Structure of Supergravity and Anomaly Cancellation

    CERN Document Server

    Butter, Daniel

    2009-01-01

    We display the full anomaly structure of supergravity, including new D-term contributions to the conformal anomaly. This expression has the super-Weyl and chiral U(1)_K transformation properties that are required for implementation of the Green-Schwarz mechanism for anomaly cancellation. We outline the procedure for full anomaly cancellation. Our results have implications for effective supergravity theories from the weakly coupled heterotic string theory.

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

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron Andre; Ersbøll, Bjarne Kjær

    2014-01-01

    Structured Abstract Objectives To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). Setting and sample population The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral...... the risk of having a cleft palate. Results The mean mandibular length in the group with CP was about 4mm 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...

  7. Current status of presurgical infant orthopaedic treatment for cleft lip and palate patients: A critical review

    Science.gov (United States)

    Niranjane, P. Priyanka; Kamble, R. H.; Diagavane, S. Pallavi; Shrivastav, S. Sunita; Batra, Puneet; Vasudevan, S. D.; Patil, Pushkar

    2014-01-01

    Rehabilitation of cleft lip and palate (CLP) patients is a challenge for all the concerned members of the cleft team, and various treatment modalities have been attempted to obtain aesthetic results. Presurgical infant orthopaedics (PSIO) was introduced to reshape alveolar and nasal segments prior to surgical repair of cleft lip. However, literature reports lot of controversy regarding the use of PSIO in patients with CLP. Evaluation of long-term results of PSIO can provide scientific evidence on the efficacy and usefulness of PSIO in CLP patients. The aim was to assess the scientific evidence on the efficiency of PSIO appliances in patients with CLP and to critically analyse the current status of PSIO. A PubMed search was performed using the terms PSIO, presurgical nasoalveolar moulding and its long-term results and related articles were selected for the review. The documented studies report no beneficial effect of PSIO on maxillary arch dimensions, facial aesthetics and in the subsequent development of dentition and occlusion in CLP patients. Nasal moulding seems to be more beneficial and effective in unilateral cleft lip and palate patients with better long-term results. PMID:25593413

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

    Science.gov (United States)

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

    2013-01-01

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

  9. Current status of presurgical infant orthopaedic treatment for cleft lip and palate patients: A critical review

    Directory of Open Access Journals (Sweden)

    P Priyanka Niranjane

    2014-01-01

    Full Text Available Rehabilitation of cleft lip and palate (CLP patients is a challenge for all the concerned members of the cleft team, and various treatment modalities have been attempted to obtain aesthetic results. Presurgical infant orthopaedics (PSIO was introduced to reshape alveolar and nasal segments prior to surgical repair of cleft lip. However, literature reports lot of controversy regarding the use of PSIO in patients with CLP. Evaluation of long-term results of PSIO can provide scientific evidence on the efficacy and usefulness of PSIO in CLP patients. The aim was to assess the scientific evidence on the efficiency of PSIO appliances in patients with CLP and to critically analyse the current status of PSIO. A PubMed search was performed using the terms PSIO, presurgical nasoalveolar moulding and its long-term results and related articles were selected for the review. The documented studies report no beneficial effect of PSIO on maxillary arch dimensions, facial aesthetics and in the subsequent development of dentition and occlusion in CLP patients. Nasal moulding seems to be more beneficial and effective in unilateral cleft lip and palate patients with better long-term results.

  10. A facial talon cusp on maxillary permanent central incisors

    Directory of Open Access Journals (Sweden)

    Suneelkumar Chinni

    2012-01-01

    Full Text Available Talon cusp is a dental anomaly that occurs as an accessory cusp like structure, from the cingulum of maxillary and mandibular anterior teeth. Lingual location is usually considered pathognomic. This case report discuss about the unusual appearance of talon cusp on the facial surface of the maxillary left permanent central incisor and a mild talon cusp on the facial surface of the maxillary right permanent central incisor.

  11. Surgical-Allogeneic Facial Reconstruction: Facial Transplants

    OpenAIRE

    Marcelo Coelho Goiato; Daniela Micheline Dos Santos; Lisiane Cristina Bannwart; Marcela Filié Haddad; Leonardo Viana Pereira; Aljomar José Vechiato Filho

    2014-01-01

    Several factors including cancer, malformations and traumas may cause large facial mutilation. These functional and aesthetic deformities negatively affect the psychological perspectives and quality of life of the mutilated patient. Conventional treatments are prone to fail aesthetically and functionally. The recent introduction of the composite tissue allotransplantation (CTA), which uses transplanted facial tissues of healthy donors to recover the damaged or non-existent facial tissue of mu...

  12. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.

    Science.gov (United States)

    Guion-Almeida, M L; Richieri-Costa, A

    2001-04-01

    We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].

  13. An/micr-ophthalmia, cleft lip/palate, and short limbs: a new syndrome simulating a short rib syndrome.

    Science.gov (United States)

    Kariminejad, Ariana; Ghaderi-Sohi, Siavash; Kariminejad, Mohammad Hassan; Lachman, Ralph

    2012-10-01

    We report on a male infant born at 38 weeks of gestation with hydrocephalus, right anophthalmia, left microphthalmia, cleft palate, midline cleft of lip, and microphallus. Autopsy showed pulmonary bronchial lymphangiectasia, hepatic periportal fibrosis, adrenal agenesis, ventricular septal defect, aortic stenosis, and undescended testes. The radiographic findings include short limbs and mild shortness of ribs. Karyotype with high-resolution banding was normal (46,XY). The combination of anomalies in this case could suggest a ciliopathy and may represent a new entity similar to that described by Cideciyan et al. [1].

  14. Vomer flap for hard palate repair is related to favorable maxillary growth in unilateral cleft lip and palate.

    Science.gov (United States)

    Liao, Yu-Fang; Lee, Ying-Hsin; Wang, Ruby; Huang, Chiung-Shing; Chen, Philip Kuo-Ting; Lo, Lun-Jou; Chen, Yu-Ray

    2014-05-01

    Vomer flap repair is assumed to improve maxillary growth because of reduced scarring in growth-sensitive areas of the palate. Our aim was to evaluate whether facial growth in patients with unilateral cleft lip and palate was significantly affected by the technique of hard palate repair (vomer flap versus two-flap). For this retrospective longitudinal study, we analyzed 334 cephalometric radiographs from 95 patients with nonsyndromic complete unilateral cleft lip and palate who underwent hard palate repair by two different techniques (vomer flap versus two-flap). Clinical notes were reviewed to record treatment histories. Cephalometry was used to determine facial morphology and growth rate. The associations among facial morphology at age 20, facial growth rate, and technique of hard palate repair were assessed using generalized estimating equation analysis. The hard palate repair technique significantly influenced protrusion of the maxilla (SNA: β = -3.5°, 95 % CI = -5.2-1.7; p = 0.001) and the anteroposterior jaw relation (ANB: β = -4.2°, 95 % CI = -6.4-1.9; p = 0.001; Wits: β = -5.7 mm, 95 % CI = -9.6-1.2; p = 0.01) at age 20, and their growth rates (SNA p = 0.001, ANB p cleft lip and palate, vomer flap repair has a smaller adverse effect than two-flap on growth of the maxilla. This effect on maxillary growth is on the anteroposterior development of the alveolar maxilla and is progressive with age. We now perform hard palate closure with vomer flap followed by soft palate closure using Furlow palatoplasty. These findings may improve treatment outcome by modifying the treatment protocol for patients with unilateral cleft lip and palate.

  15. PRENATAL EXPOSURE TO PHENYTOIN, FACIAL DEVELOPMENT, AND A POSSIBLE ROLE FOR VITAMIN-K

    NARCIS (Netherlands)

    HOWE, AM; LIPSON, AH; SHEFFIELD, LJ; HAAN, EA; HALLIDAY, JL; JENSON, F; DAVID, DJ; WEBSTER, WS

    1995-01-01

    Ten patients with maxillonasal hypoplasia (Binder ''syndrome''), who were prenatally exposed to phenytoin (usually in combination with other anticonvulsants), were identified retrospectively. In addition to their facial anomalies, 6 of the patients were radiographed neonatally and showed punctate ca

  16. PRENATAL EXPOSURE TO PHENYTOIN, FACIAL DEVELOPMENT, AND A POSSIBLE ROLE FOR VITAMIN-K

    NARCIS (Netherlands)

    HOWE, AM; LIPSON, AH; SHEFFIELD, LJ; HAAN, EA; HALLIDAY, JL; JENSON, F; DAVID, DJ; WEBSTER, WS

    1995-01-01

    Ten patients with maxillonasal hypoplasia (Binder ''syndrome''), who were prenatally exposed to phenytoin (usually in combination with other anticonvulsants), were identified retrospectively. In addition to their facial anomalies, 6 of the patients were radiographed neonatally and showed punctate

  17. Dental materials for cleft palate repair.

    Science.gov (United States)

    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.

  18. Sub mucous cleft palate with fenestration

    OpenAIRE

    Shah, Sheerin; Garg, Ramneesh; Uppal, Sanjeev K.; Mittal, Rajinder K.

    2014-01-01

    Congenital fenestration in sub mucous cleft palate is not a common identity. This patient is a 16-year-old female who presented with nasal speech. On examination, she had associated microform cleft lip with nasal deformity. Successful palatoplasty with intra velar veloplasty was done.

  19. Frontonasal and fibrous dysplasia in a patient with unilateral cleft lip and palate.

    Science.gov (United States)

    Weathers, William M; Wolfswinkel, Erik M; Albright, Steven B; Hollier, Larry H; Buchanan, Edward P

    2013-07-01

    Frontonasal dysplasia is a rare entity. It has characteristic physical deformities: hypertelorism, broad nasal root, median facial cleft of the upper lip or palate, clefting of the nasal alae, poorly formed nasal tip, cranium bifidum occultum, and a widow's peak hairline. Fibrous dysplasia is a benign bone tumor in which normal bone is replaced by fibrous, poorly formed osseus tissues. We present a patient with frontonasal dysplasia who desired correction of her hypertelorism. Incidentally, fibrous dysplasia was found in her left orbit complicating surgical correction. In addition, the patient has velopharyngeal insufficiency and a class III malocclusion. The interplay of all these craniofacial defects makes the sequencing and timing of surgery important in this unique patient.

  20. Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate

    DEFF Research Database (Denmark)

    Pedersen, Kirsten Mølsted; Humerinta, Kirsti; Küseler, Annelise

    2017-01-01

    BACKGROUND AND AIM: 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...... the three trials. CONCLUSION: 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. TRIAL REGISTRATION: ISRCTN...... 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...

  1. Invariant properties of representations under cleft extensions

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    The main aim of this paper is to give the invariant properties of representations of algebras under cleft extensions over a semisimple Hopf algebra. Firstly, we explain the concept of the cleft extension and give a relation between the cleft extension and the crossed product which is the approach we depend upon. Then, by making use of them, we prove that over an algebraically closed field k, for a finite dimensional Hopf algebra H which is semisimple as well as its dual H*, the representation type of an algebra is an invariant property under a finite dimensional H-cleft extension . In the other part, we still show that over an arbitrary field k, the Nakayama property of a k-algebra is also an invariant property under an H -cleft extension when the radical of the algebra is H-stable.

  2. Diagnosis and management of traumatic cyclodialysis cleft.

    Science.gov (United States)

    Malandrini, Alex; Balestrazzi, Angelo; Martone, Gianluca; Tosi, Gian Marco; Caporossi, Aldo

    2008-07-01

    A 48-year-old man presented with hyphema, iridocyclitis, iridophacodonesis, and maculopathy after a contusive trauma. Ultrasound biomicroscopy identified a 90-degree cyclodialysis cleft with severe damage of the zonular fibers. Echographic B-scan examination revealed intravitreal hemorrhage and a 360-degree choroidal detachment. One month later, phacoemulsification was performed and a single-piece poly(methyl methacrylate) intraocular lens was inserted into the ciliary sulcus, with the haptic rotated toward the cyclodialysis cleft area. Postoperatively, the visual acuity improved and the intraocular pressure returned to normal. Ultrasound biomicroscopy showed closure of the cleft by reattachment of the ciliary body to the scleral spur. Optical coherence tomography revealed complete resolution of the macular and choroidal folds. Ultrasound biomicroscopy is a useful method for appropriate management of traumatic cyclodialysis cleft. In cases of small cyclodialysis clefts, with the surgical method we describe, the lens haptics apply directional force toward the sclera, fostering adherence of the ciliary body fibers.

  3. Quantitative analysis of orofacial development and median clefts in Xenopus laevis.

    Science.gov (United States)

    Kennedy, Allyson E; Dickinson, Amanda J

    2014-05-01

    Xenopus has become a useful tool to study the molecular mechanisms underlying orofacial development. However, few quantitative analyses exist to describe the anatomy of this region. In this study we combine traditional facial measurements with geometric morphometrics to describe anatomical changes in the orofacial region during normal and abnormal development. Facial measurements and principal component (PC) analysis indicate that during early tadpole development the face expands primarily in the midface region accounting for the development of the upper jaw and primary palate. The mouth opening correspondingly becomes flatter and wider as it incorporates the jaw elements. A canonical variate analysis of orofacial and mouth opening shape emphasized that changes in the orofacial shape occur gradually. Orofacial anatomy was quantified after altered levels of retinoic acid using all-trans retinoic acid or an inhibitor of retinoic acid receptors or by injecting antisense oligos targeting RALDH2. Such perturbations resulted in major decreases in the width of the midface and the mouth opening illustrated in facial measurements and a PC analysis. The mouth opening shape also had a gap in the primary palate resulting in a median cleft in the mouth opening that was only illustrated quantitatively in the morphometric analysis. Finally, canonical and discriminant function analysis statistically distinguished the orofacial and mouth opening shape changes among the different modes used to alter retinoic acid signaling levels. By combining quantitative analyses with molecular studies of orofacial development we will be better equipped to understand the complex morphogenetic processes involved in palate development and clefting.

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

    Science.gov (United States)

    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.

  5. Facial Injuries and Disorders

    Science.gov (United States)

    Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, ... your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. For ...

  6. X-linked genes and risk of orofacial clefts

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Skare, Øivind; Lie, Rolv T

    2012-01-01

    Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis...

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

    Science.gov (United States)

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

    2012-05-01

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

  8. Parents' age and the risk of oral clefts

    DEFF Research Database (Denmark)

    Bille, C.; Skytthe, A.; Vach, W.

    2005-01-01

    . METHODS: Among the 1,489,014 live births in Denmark during 1973-1996, there were 1920 children with nonsyndromic cleft lip with or without cleft palate and 956 children with nonsyndromic cleft palate. We used logistic regression to assess the impact of parental age on the occurrence of cleft lip....... In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age...

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

    Science.gov (United States)

    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.

  10. Facial Expression Analysis

    NARCIS (Netherlands)

    Pantic, Maja; Li, S.; Jain, A.

    2009-01-01

    Facial expression recognition is a process performed by humans or computers, which consists of: 1. Locating faces in the scene (e.g., in an image; this step is also referred to as face detection), 2. Extracting facial features from the detected face region (e.g., detecting the shape of facial compon

  11. Facial Expression Recognition

    NARCIS (Netherlands)

    Pantic, Maja; Li, S.; Jain, A.

    2009-01-01

    Facial expression recognition is a process performed by humans or computers, which consists of: 1. Locating faces in the scene (e.g., in an image; this step is also referred to as face detection), 2. Extracting facial features from the detected face region (e.g., detecting the shape of facial

  12. Facial paralysis in children.

    Science.gov (United States)

    Reddy, Sashank; Redett, Richard

    2015-04-01

    Facial paralysis can have devastating physical and psychosocial consequences. These are particularly severe in children in whom loss of emotional expressiveness can impair social development and integration. The etiologies of facial paralysis, prospects for spontaneous recovery, and functions requiring restoration differ in children as compared with adults. Here we review contemporary management of facial paralysis with a focus on special considerations for pediatric patients.

  13. Surgical-allogeneic facial reconstruction: facial transplants.

    Directory of Open Access Journals (Sweden)

    Marcelo Coelho Goiato

    2014-12-01

    Full Text Available Several factors including cancer, malformations and traumas may cause large facial mutilation. These functional and aesthetic deformities negatively affect the psychological perspectives and quality of life of the mutilated patient. Conventional treatments are prone to fail aesthetically and functionally. The recent introduction of the composite tissue allotransplantation (CTA, which uses transplanted facial tissues of healthy donors to recover the damaged or non-existent facial tissue of mutilated patients, resulted in greater clinical results. Therefore, the present study aims to conduct a literature review on the relevance and effectiveness of facial transplants in mutilated subjects. It was observed that the facial transplants recovered both the aesthetics and function of these patients and consequently improved their quality of life.

  14. Chiral anomalies and differential geometry

    Energy Technology Data Exchange (ETDEWEB)

    Zumino, B.

    1983-10-01

    Some properties of chiral anomalies are described from a geometric point of view. Topics include chiral anomalies and differential forms, transformation properties of the anomalies, identification and use of the anomalies, and normalization of the anomalies. 22 references. (WHK)

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

    Science.gov (United States)

    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.

  16. Feeding methods for children with cleft lip and/or palate: a systematic review.

    Science.gov (United States)

    Duarte, Giesse Albeche; Ramos, Ramon Bossardi; Cardoso, Maria Cristina de Almeida Freitas

    2016-01-01

    Feeding difficulties in children with cleft lip and palate (CLP) are frequent and appear at birth due to impairment of sucking and swallowing functions. The use of appropriate feeding methods for the different types of cleft and the period of the child's life is of utmost importance for their full development. Review studies comparing feeding methods for children with CLP, pre- and postoperatively. The search covered the period between January 1990 and August 2015 in the PubMed, LILACS, SciELO, and Google Scholar databases using the terms: cleft lip or cleft palate and feeding methods or breastfeeding or swallowing disorders and their synonyms. This systematic review was recorded in PROSPERO under number CRD42014015011. Publications that compared feeding methods and published in Portuguese, English, and Spanish were included in the review. Studies with associated syndromes, orthopedic methods, or comparing surgical techniques were not included. The three reviewed studies on the period prior to surgical repair showed better feeding performance with three different methods: squeezable bottle, syringe, and paladai bottle. Only one study addressed the postoperative period of cleft lip and/or palate repair, with positive results for the feeding method with suction. Likewise, the post-lip repair studies showed better results with suction methods. After palatoplasty, two studies showed better performance with alternative feeding routes, one study with suction method, and one study that compared methods with no suction showed better results with spoon. The studies show that prior to surgical repair, the use of alternative methods can be beneficial. In the postoperative period following lip repair, methods with suction are more beneficial. However, in the postoperative period of palatoplasty, there are divergences of opinion regarding the most appropriate feeding methods. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published

  17. Implementing the Brazilian Database on Orofacial Clefts

    Directory of Open Access Journals (Sweden)

    Isabella Lopes Monlleó

    2013-01-01

    Full Text Available Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%, cleft palate to 99 (26.8%, and cleft lip to 73 (19.7% cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.

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

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron Andre; Ersbøll, Bjarne Kjær

    2014-01-01

    Structured Abstract Objectives To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). Setting and sample population The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral...... incomplete cleft lip (UICL). Material and Methods Cephalometric X-rays were obtained. Mandibular length (L-m) was measured and corrected for body length (L-b) to remove influence of varying body length in the sample. Logistic regression was applied to the corrected mandibular length (L-mc) to calculate...... the risk of having a cleft palate. Results The mean mandibular length in the group with CP was about 4mm 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...

  19. A case of dextrocardia, radial ray malformation and renal anomaly.

    Science.gov (United States)

    Nallegowda, M; Singh, U; Shivananda; Shukla, R; Kabra, M

    2003-10-01

    A 12-year-old boy is described with bilateral radial club hands, scoliosis, hypospadias, isolated dextrocardia, hypoplastic ribs, an ectopic kidney and spina bifida occulta. Although some of the clinical features of this patient are seen in VATER association and sacrococcygeal dysgenesis, the presence of dextrocardia, facial dysmorphism, radial, renal and vertebral anomalies preclude these diagnoses.

  20. Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome.

    Science.gov (United States)

    Takci, S; Yigit, S; Haliloglu, M; Boduroglu, K; Kiper, N

    2013-01-01

    Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome.

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

    Science.gov (United States)

    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.

  2. Prevalence of cleft lip and cleft palate in rural north-central guatemala.

    Science.gov (United States)

    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.

  3. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    Directory of Open Access Journals (Sweden)

    Lovya George

    2015-10-01

    Full Text Available Preterm infants (PIs often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure.

  4. Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort.

    Science.gov (United States)

    Grosen, Dorthe; Bille, Camilla; Pedersen, Jacob Krabbe; Skytthe, Axel; Murray, Jeffrey C; Christensen, Kaare

    2010-10-01

    Our objective in this Danish population-based cohort study was to estimate the recurrence risk of isolated oral cleft (OC) for offspring of the unaffected co-twins of OC discordant twin pairs and to compare this risk to the recurrence risk in the offspring of the affected co-twin as well as to the risk in the background population. During 1936-2004, 207 twin pairs were ascertained, among whom at least one twin had an OC. The index persons were twins discordant for OC who had children (N=117), and their offspring (N=239). The participants were ascertained by linkage between The Danish Facial Cleft Database, The Danish Twin Registry and The Danish Civil Registration System. In the study OC recurrence risk for offspring of the affected and unaffected twin and relative risk were compared to the background prevalence. We found that among 110 children of the 54 OC affected twins, two (1.8%) children had OC corresponding to a significantly increased relative risk (RR=10; 95% CI 1.2-35) when compared to the frequency in the background population. Among the 129 children of the 63 unaffected twins, three (2.3%) children were affected, corresponding to a significantly increased relative risk (RR=13; 95% CI 2.6-36) when compared the background prevalence. We concluded that in OC discordant twin pairs similar increased recurrence risks were found among offspring of both OC affected and OC unaffected twins. This provides further evidence for a genetic component in cleft etiology and is useful information for genetic counseling of twin pairs discordant for clefting. Copyright © 2010 Wiley-Liss, Inc.

  5. Weight, Length, and Body Mass Index Growth of Children Under 2 Years of Age With Cleft Lip and Palate.

    Science.gov (United States)

    Miranda, Gabriela Serrano; Marques, Ilza Lazarini; de Barros, Suely Prietto; Arena, Eliane Petean; de Souza, Luiz

    2016-05-01

    To study the growth of length-for-age (L/A), weight-for-age (W/A), and body mass index (BMI) of children with cleft lip and palate receiving a normal diet; to establish specific growth curves for children with cleft palate with or without cleft lip (CLP/ICP) who had not undergone palatoplasty and for children with isolated cleft lip (ICL); and to assess if CLP/ICP growth differed from ICL growth and if CLP/ICP and ICL growth differed from growth for typical children. Prospective and cross-sectional study. Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, São Paulo, Brazil. Weight and length of 381 children with cleft lip and palate and who were younger than 2 years were recorded and used to calculate W/A, L/A, and BMI growth curves. The 2006 World Health Organization growth charts were used as a reference for typical children. All children received a normal diet for age. Children with CLP/ICP had median W/A and BMI growth curves below growth curves for typical children but showed spontaneous recovery starting at approximately 5 months of age, even with nonoperated cleft palate. Children with ICL had growth similar to that of typical children. Children with CLP/ICP, who initially had W/A and BMI values less than those of the ICL group, had W/A and BMI equal to or higher than the ICL group after 9 months of age. Children with CLP/ICP had impaired W/A and BMI growth with spontaneous recovery starting early in childhood. This study established specific W/A, BMI, and L/A growth curves for children with cleft lip and palate.

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

    Science.gov (United States)

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

    2008-03-01

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

  7. Bone Regeneration in Artificial Jaw Cleft by Use of Carbonated Hydroxyapatite Particles and Mesenchymal Stem Cells Derived from Iliac Bone

    Directory of Open Access Journals (Sweden)

    Motoko Yoshioka

    2012-01-01

    Full Text Available Objectives of the Study. Cleft lip and palate (CLP is a prevalent congenital anomaly in the orofacial region. Autogenous iliac bone grafting has been frequently employed for the closure of bone defects at the jaw cleft site. Since the related surgical procedures are quite invasive for patients, it is of great importance to develop a new less invasive technique. The aim of this study was to examine bone regeneration with mesenchyme stem cells (MSCs for the treatment of bone defect in artificially created jaw cleft in dogs. Materials and Methods. A bone defect was prepared bilaterally in the upper incisor regions of beagle dogs. MSCs derived from iliac bone marrow were cultured and transplanted with carbonated hydroxyapatite (CAP particles into the bone defect area. The bone regeneration was evaluated by standardized occlusal X-ray examination and histological observation. Results. Six months after the transplantation, perfect closure of the jaw cleft was achieved on the experimental side. The X-ray and histological examination revealed that the regenerated bone on the experimental side was almost equivalent to the original bone adjoining the jaw cleft. Conclusion. It was suggested that the application of MSCs with CAP particles can become a new treatment modality for bone regeneration for CLP patients.

  8. Massive facial teratoma managed with the ex utero intrapartum treatment (EXIT procedure and use of a 3-dimensional printed model for planning of staged debulking

    Directory of Open Access Journals (Sweden)

    Maggie M. Hodges

    2017-02-01

    Full Text Available Teratomas are the most frequent solid tumor found in neonates. However, only 1.5% of neonatal teratomas originate from facial structures. Neonatal facial teratomas are associated with polyhydramnios, preterm birth, pulmonary hypoplasia, cleft palate, cleft lip, and life-threatening airway compromise. The overall survival reported with these lesions has been between 17 and 87.5%; however survival in the setting of antenatally diagnosed facial teratomas has only been described anecdotally. We present a case of an antenatally diagnosed massive facial teratoma originating from the pterygomaxillary fossa, which was associated with polyhydramnios and pre-term birth. We managed this complex tumor with an ex utero intrapartum treatment (EXIT procedure, multidisciplinary medical and surgical team, and staged excision and reconstruction aided by use of a 3-dimensional printed model. Here we review the surgical management of this rare and complex tumor.

  9. Surgical treatment of facial paralysis.

    Science.gov (United States)

    Mehta, Ritvik P

    2009-03-01

    The management of facial paralysis is one of the most complex areas of reconstructive surgery. Given the wide variety of functional and cosmetic deficits in the facial paralysis patient, the reconstructive surgeon requires a thorough understanding of the surgical techniques available to treat this condition. This review article will focus on surgical management of facial paralysis and the treatment options available for acute facial paralysis (facial paralysis (3 weeks to 2 yr) and chronic facial paralysis (>2 yr). For acute facial paralysis, the main surgical therapies are facial nerve decompression and facial nerve repair. For facial paralysis of intermediate duration, nerve transfer procedures are appropriate. For chronic facial paralysis, treatment typically requires regional or free muscle transfer. Static techniques of facial reanimation can be used for acute, intermediate, or chronic facial paralysis as these techniques are often important adjuncts to the overall management strategy.

  10. Assessment of middle ear function in patients with cleft palate treated under "Smile Train Project"

    Directory of Open Access Journals (Sweden)

    Prachi Gautam

    2011-01-01

    Full Text Available Objective: To evaluate the middle ear function in patients of cleft palate treated under "Smile Train Project". Materials and Methods: Sixty patients (120 ears; 32 male and 28 female of cleft palate with or without cleft lip were evaluated in pediatrics and ENT OPD in preoperative period. A general medical check up was performed in pediatrics OPD to evaluate the associated craniofacial anomalies. Middle ear function was evaluated in ENT OPD. Otoscopy was done in all patients. Cases under five years of age were evaluated for middle ear function by tympanometry and cases with more than five years of age were evaluated by tympanometry for middle ear function and pure tone audiometry to establish the type of hearing loss. The results are presented as number of ears. Results: A total of 50% of the patients in the study group were in zero- to two-year age group. Otoscopy findings in 120 ears showed that 66.66% of the patients had dull tympanic membrane suggesting a diagnosis of otitis media with effusion. Tympanometry was done in 110 ears, of which, 72.72% of ears had type B tympanogram suggesting otitis media with effusion. Pure tone audiometry in more than five years age group showed that 81.25% ears had conductive hearing loss. Conclusion: This study suggests the need of preoperative ENT check up and audiological assessment in patients of cleft palate undergoing palatal surgery under "Smile Train Project". The association of otitis media with effusion in patients with cleft palate appears strong and a high degree of suspicion for the disease should be kept in them. The anatomical defect and possible causative pathophysiology also supports the inference. Otitis media with effusion causing hearing loss in these patients causes speech delay and unfavorable outcome despite aggressive speech therapy in postoperative period. A co-ordinate team approach of concerned specialists involved in managing these patients would definitely improve their outcome.

  11. Nasoalveolar Molding: A new Method for Cleft Lip and Palate Rehabilitation

    Directory of Open Access Journals (Sweden)

    A Jahanbin

    2014-04-01

    Full Text Available Introduction: Cleft lip and palate is a congenital anomaly occurring in 3 in 1000 live birth. One the major concern in this patient is about cleft gap and its surgical problems. Several surgical and non-surgical procedures have been done to decrease this gap. They aimed to achieve the more esthetic results as well as feeding success. Nasoalveolar Molding (NAM is a new method for reshaping nasal and alveolar bones, presurgically. Matsuo et al described that auricular cartilage could be molded permanently when treatment was done within 6 weeks of life. High levels of maternal estrogen in the fetal circulation can triggers hyaluronic acid which can alter the cartilage, ligament and connective tissue elasticity.Estrogen level continue to drop after 6 weeks of age. This concept was applied for the correction of nasal deformities in cleft lip patients. Nasolaveolar molding may stimulate immature nasal chondroblasts and produce interstitial expansion.   Aims of Nasoalveolar Molding: a. Active molding and repositioning of the deformed nasal cartilages and alveolar processes. b. Appropriate Lengthening of the columellac. Better bone healing after surgey due to reducing the gaped. Reduces the need for secondary alveolar bone grafts. Correction of lip position with minimal scarf. Reducing hospital stay for nasal esthetic surgeryg. Better weight gain in early infancy   Conclusion: Management of cleft lip and palate has been changed with more emphasis on the nasal and alveolar molding prior to the primary lip repair. This method reduces the number reconstructive surgeries  for the purpose of esthetics as well as may cause better feeding in early infancy.   Keywords: Cleft Lip and Palate, Infant Orthopedics, Nasal Molding.  

  12. Contemporary facial reanimation.

    Science.gov (United States)

    Bhama, Prabhat K; Hadlock, Tessa A

    2014-04-01

    The facial nerve is the most commonly paralyzed nerve in the human body. Facial paralysis affects aesthetic appearance, and it has a profound effect on function and quality of life. Management of patients with facial paralysis requires a multidisciplinary approach, including otolaryngologists, plastic surgeons, ophthalmologists, and physical therapists. Regardless of etiology, patients with facial paralysis should be evaluated systematically, with initial efforts focused upon establishing proper diagnosis. Management should proceed with attention to facial zones, including the brow and periocular region, the midface and oral commissure, the lower lip and chin, and the neck. To effectively compare contemporary facial reanimation strategies, it is essential to employ objective intake assessment methods, and standard reassessment schemas during the entire management period.

  13. Tracheobronchial Branching Anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick [Soonchunhyang University, Cheonan Hospital, Cheonan (Korea, Republic of); Park, A Young [Soonchunhyang University College of Medicine, Asan (Korea, Republic of)

    2010-04-15

    There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

  14. Cleft sidedness and congenitally missing teeth in patients with cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Abdolreza Jamilian

    2016-05-01

    Full Text Available Abstract Background The aim of this study was to investigate the prevalence of cleft sidedness, and the number of congenitally missing teeth in regard to cleft type and gender. Methods The charts, models, radiographs, and intraoral photographs of 201 cleft patients including 131 males with the mean age of 12.3 ± 4 years and 70 females with the mean age of 12.6 ± 3.9 years were used for the study. T test, Chi-square, and binomial tests were used for assessment of the data. Results and conclusions One hundred forty-eight of the subjects suffered from cleft lip and palate followed by 41 subjects who suffered from cleft lip and alveolus. Chi-square test did not show any significant difference between the genders. Binomial test showed that left-sided cleft was more predominant in unilateral cleft lip and palate patients (P < 0.001. This study also showed that the upper lateral incisors were the most commonly missing teeth in the cleft area.

  15. Facial Reconstruction and Rehabilitation.

    Science.gov (United States)

    Guntinas-Lichius, Orlando; Genther, Dane J; Byrne, Patrick J

    2016-01-01

    Extracranial infiltration of the facial nerve by salivary gland tumors is the most frequent cause of facial palsy secondary to malignancy. Nevertheless, facial palsy related to salivary gland cancer is uncommon. Therefore, reconstructive facial reanimation surgery is not a routine undertaking for most head and neck surgeons. The primary aims of facial reanimation are to restore tone, symmetry, and movement to the paralyzed face. Such restoration should improve the patient's objective motor function and subjective quality of life. The surgical procedures for facial reanimation rely heavily on long-established techniques, but many advances and improvements have been made in recent years. In the past, published experiences on strategies for optimizing functional outcomes in facial paralysis patients were primarily based on small case series and described a wide variety of surgical techniques. However, in the recent years, larger series have been published from high-volume centers with significant and specialized experience in surgical and nonsurgical reanimation of the paralyzed face that have informed modern treatment. This chapter reviews the most important diagnostic methods used for the evaluation of facial paralysis to optimize the planning of each individual's treatment and discusses surgical and nonsurgical techniques for facial rehabilitation based on the contemporary literature.

  16. [Facial tics and spasms].

    Science.gov (United States)

    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.

  17. Behavioral pattern in Chinese school-aged children with cleft lip and palate

    Institute of Scientific and Technical Information of China (English)

    Pin Ha; Xu-Qing Zhuge; Qian Zheng; Bing Shi; Cai-Xia Gong; Yan Wang

    2013-01-01

    Objective:To obtain descriptive information of behavioral pattern inChinese school-aged children with cleft lip and palate.Methods:A total of93 cleft lip and palate patients between the age of6-11 year-old and treated atWestChinaStomatologyHospital were selected.And another 100 unaffected controls, matched for age and gender, were recruited randomly from a common primary school inChengdu.Chart review of medical records was used to obtain psychosocial checklists.Scores were compared with published norms and controls to evaluate the risk of problems, separately for three diagnostic groups.Results:The patients group had lower scores of social and academic competencies, especially those with facial deformity or speech problem. No difference was found in the aspect of activity competency.All patients showed elevations in behavior problems.But the type of behavior problems varied in different genders.Conclusions:Chinese school-aged children with cleft lip and palate are at raised risk for social and academic difficulties.Specific pattern of behavior problems displays differently depending on gender of the patient.

  18. Goldenhar syndrome associated with cleft lip and palate. A case report.

    Directory of Open Access Journals (Sweden)

    Nayaret Soto

    2012-12-01

    Full Text Available In the literature is possible to find an extense variety of syndromes associated with cleft palate, so in patients with this condition is essential to ask if the damage is or not associated with some syndrome. Necessary to provide adequate treatment. Case report: To the Service of Orthodontics, Las Higueras Hospital was derived a female patient, born on June 22th, 2012. Clinical diagnosis was cleft lip and full cracked palate with a GAP of 17mm, left and right macrostomia, malformed ears, epibulbar cyst in left eyeball, serie of oral papillomas and headphone level, apparently associating this condition to some kind of syndrome. It was made an acrylic plate for the patient can feed and initiates the treatment presurgical orthopedics. The mother recounts in the clinical History suffer diabetes, one of his sons has cognitive delay, not associated to syndrome. Imaging test shows mild hydrocephalus, jaw fully formation, normal audiometry. All changes are in facial area at the rest of the body is shown within normal parameters.Was performed a complete clinical and imaging examination and request help from geneticist, who collected all the facts confirm the presumptive diagnosis of Goldenhar syndrome.Many syndromes that manifest cleft palate are associated with genetic component, except that even Goldenhar syndrome of unknown cause.It is important to note that there are syndromes expressing varying degrees of severity of cracked palate to also give the patient a full treatment.

  19. 3-D shape analysis of palatal surface in patients with unilateral complete cleft lip and palate.

    Science.gov (United States)

    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.

  20. Modified technique of presurgical infant maxillary orthopedics for complete unilateral cleft lip and palate.

    Science.gov (United States)

    Choo, Hyeran; Maguire, Meg; Low, David W

    2012-01-01

    This article introduces a modified device fabrication and facial taping method that increases the efficiency and efficacy of presurgical infant maxillary orthopedic therapy for babies born with complete cleft lip and palate. Interarch and intra-arch relationships of the maxillary and mandibular dental arches were evaluated on mounted stone models before and after treatment. The palatal plate device was custom-fabricated in a manner that bypassed the need for periodic acrylic addition and removal, thereby eliminating the risk of natural maxillary growth restriction during therapy. Elastic labial tapes were fabricated and applied in a configuration that mimicked normal function of the orbicularis oris muscle. A nasal stent wire was utilized from the initiation of therapy to enhance intraoral retention and stability of the device. Examples of infants undergoing a unilateral complete cleft lip and palate treatment protocol are presented. Treatment objectives were achieved within 7 to 8 weeks of therapy for patients who had an initial alveolar cleft size more than 10 to 12 mm. The modified protocol of presurgical infant maxillary orthopedic therapy is an effective and efficient treatment modality in reversing the pre-existing orofacial dysmorphism by redirecting the infant's natural growth.

  1. History of facial pain diagnosis

    DEFF Research Database (Denmark)

    Zakrzewska, Joanna M; Jensen, Troels S

    2017-01-01

    Premise Facial pain refers to a heterogeneous group of clinically and etiologically different conditions with the common clinical feature of pain in the facial area. Among these conditions, trigeminal neuralgia (TN), persistent idiopathic facial pain, temporomandibular joint pain, and trigeminal...

  2. Adult psychological functioning of individuals born with craniofacial anomalies.

    Science.gov (United States)

    Sarwer, D B; Bartlett, S P; Whitaker, L A; Paige, K T; Pertschuk, M J; Wadden, T A

    1999-02-01

    This study represents an initial investigation into the adult psychological functioning of individuals born with craniofacial disfigurement. A total of 24 men and women born with a craniofacial anomaly completed paper and pencil measures of body image dissatisfaction, self-esteem, quality of life, and experiences of discrimination. An age- and gender-matched control group of 24 non-facially disfigured adults also completed the measures. As expected, craniofacially disfigured adults reported greater dissatisfaction with their facial appearance than did the control group. Craniofacially disfigured adults also reported significantly lower levels of self-esteem and quality of life. Dissatisfaction with facial appearance, self-esteem, and quality of life were related to self-ratings of physical attractiveness. More than one-third of craniofacially disfigured adults (38 percent) reported experiences of discrimination in employment or social settings. Among disfigured adults, psychological functioning was not related to number of surgeries, although the degree of residual facial deformity was related to increased dissatisfaction with facial appearance and greater experiences of discrimination. Results suggest that adults who were born with craniofacial disfigurement, as compared with non-facially disfigured adults, experience greater dissatisfaction with facial appearance and lower self-esteem and quality of life; however, these experiences do not seem to be universal.

  3. Speech therapy for errors secondary to cleft palate and velopharyngeal dysfunction.

    Science.gov (United States)

    Kummer, Ann W

    2011-05-01

    Individuals with a history of cleft lip/palate or velopharyngeal dysfunction may demonstrate any combination of speech sound errors, hypernasality, and nasal emission. Speech sound distortion can also occur due to other structural anomalies, including malocclusion. Whenever there are structural anomalies, speech can be affected by obligatory distortions or compensatory errors. Obligatory distortions (including hypernasality due to velopharyngeal insufficiency) are caused by abnormal structure and not by abnormal function. Therefore, surgery or other forms of physical management are needed for correction. In contrast, speech therapy is indicated for compensatory articulation productions where articulation placement is changed in response to the abnormal structure. Speech therapy is much more effective if it is done after normalization of the structure. When speech therapy is appropriate, the techniques involve methods to change articulation placement using standard articulation therapy principles. Oral-motor exercises, including the use of blowing and sucking, are never indicated to improve velopharyngeal function. The purpose of this article is to provide information regarding when speech therapy is appropriate for individuals with a history of cleft palate or other structural anomalies and when physical management is needed. In addition, some specific therapy techniques are offered for the elimination of common compensatory articulation productions.

  4. A unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Levin, M.L.; Shaffer, L.G.; Lewis, R.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Contiguous gene or microdeletion syndromes occurring on chromosome 17p include the Smith-Magenis and Miller-Dieker syndromes associated with interstitial deletions of 17p11.2 and 17p13.3, respectively. Other cytogenetically visible interstitial deletions on chromosome 17 are quite rare or unique. We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del(17)(q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. We have compared our patient`s phenotype and karyotype to two reported patients with deletion 17q with minor clinical overlap. The most striking clinical features of this patient were severe intrauterine growth retardation, widespread skeletal malformations (split sutures, hypoplastic acetabulae and scapulae, vertebral anomalies, and digital hypoplasia), cutis verticis gyrata, dysmorphic facial features, and oropharyngeal malformations (absent uvula and submucous cleft palate). Mild congenital heart disease and anomalous optic nerves were also present. Parental karyotyps were normal. DNA from parents and patient has been collected and cell lines established on both parents. Genes which have been previously mapped to the region that is apparently deleted in this patient include: chorionic somatomammotropin A, growth hormone (normal), acid alpha-glucosidase, apolipoprotein H, and the alpha peptide of type 4 voltage gated sodium channel. As in other clinical cytogenetic syndromes, further descriptions of patients with similar or overlapping rearrangements in this region will be necessary to delineate genotype/phenotype correlations for chromosome 17.

  5. Congenital anomalies associated with trisomy 18 or trisomy 13

    DEFF Research Database (Denmark)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation......), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted...... in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had...

  6. Lexical selectivity in Danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    Objective: To study if Danish toddlers with cleft palate display lexical selectivity in their early lexicon at 18 months of age. Design: A cross-sectional study. Participants: Thirty-four children with unilateral cleft lip and palate and 35 children without cleft palate, matched for gender and age...... productions establishing an observed productive vocabulary size for each participant. Results: At 18 months of age Danish toddlers with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months of age in a previous study of the children...... with cleft palate was almost perfectly reflected in their early lexicon at 18 months. The early lexicon of children with cleft palate differed from the early lexicon of their non cleft peers. Conclusions & Implications: Danish toddlers with cleft palate display lexical selectivity in the early lexicon...

  7. Lexical selectivity in Danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    Objective: To study if Danish toddlers with cleft palate display lexical selectivity in their early lexicon at 18 months of age. Design: A cross-sectional study. Participants: Thirty-four children with unilateral cleft lip and palate and 35 children without cleft palate, matched for gender and age...... productions establishing an observed productive vocabulary size for each participant. Results: At 18 months of age Danish toddlers with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months of age in a previous study of the children...... with cleft palate was almost perfectly reflected in their early lexicon at 18 months. The early lexicon of children with cleft palate differed from the early lexicon of their non cleft peers. Conclusions & Implications: Danish toddlers with cleft palate display lexical selectivity in the early lexicon...

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    Agarwal, Rajiv; Chandra, Ramesh

    2012-09-01

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

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

    Science.gov (United States)

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

    2016-06-01

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

  11. Facial expression and sarcasm.

    Science.gov (United States)

    Rockwell, P

    2001-08-01

    This study examined facial expression in the presentation of sarcasm. 60 responses (sarcastic responses = 30, nonsarcastic responses = 30) from 40 different speakers were coded by two trained coders. Expressions in three facial areas--eyebrow, eyes, and mouth--were evaluated. Only movement in the mouth area significantly differentiated ratings of sarcasm from nonsarcasm.

  12. Holistic facial expression classification

    Science.gov (United States)

    Ghent, John; McDonald, J.

    2005-06-01

    This paper details a procedure for classifying facial expressions. This is a growing and relatively new type of problem within computer vision. One of the fundamental problems when classifying facial expressions in previous approaches is the lack of a consistent method of measuring expression. This paper solves this problem by the computation of the Facial Expression Shape Model (FESM). This statistical model of facial expression is based on an anatomical analysis of facial expression called the Facial Action Coding System (FACS). We use the term Action Unit (AU) to describe a movement of one or more muscles of the face and all expressions can be described using the AU's described by FACS. The shape model is calculated by marking the face with 122 landmark points. We use Principal Component Analysis (PCA) to analyse how the landmark points move with respect to each other and to lower the dimensionality of the problem. Using the FESM in conjunction with Support Vector Machines (SVM) we classify facial expressions. SVMs are a powerful machine learning technique based on optimisation theory. This project is largely concerned with statistical models, machine learning techniques and psychological tools used in the classification of facial expression. This holistic approach to expression classification provides a means for a level of interaction with a computer that is a significant step forward in human-computer interaction.

  13. Facial talon cusps.

    LENUS (Irish Health Repository)

    McNamara, T

    1997-12-01

    This is a report of two patients with isolated facial talon cusps. One occurred on a permanent mandibular central incisor; the other on a permanent maxillary canine. The locations of these talon cusps suggests that the definition of a talon cusp include teeth in addition to the incisor group and be extended to include the facial aspect of teeth.

  14. The use of SymNose for quantitative assessment of lip symmetry following repair of complete bilateral cleft lip and palate.

    Science.gov (United States)

    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 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.

  15. Soft tissue chondroma of hard palate associated with cleft palate

    OpenAIRE

    Rajendra Nehete; Anita Nehete; Sandeep Singla; Sudhir Sankalecha

    2012-01-01

    Soft tissue chondroma of palate is very rare. It has never been reported in a cleft palate patient. We report a case of 22-year-old male who came with asymptomatic swelling on the palate since birth, along with complete cleft of secondary palate. He had symptoms related to cleft palate only, i.e., nasal regurgitation and speech abnormalities. Swelling was excised and the cleft palate was repaired. Histopathological examination revealed chondroma of the palate. The patient had no recurrence af...

  16. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    OpenAIRE

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

    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 managemen...

  17. Dermatoglyphic peculiarities in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Mathew L

    2005-01-01

    Full Text Available In humans, the development of the primary palate and the lip is completed by the 7th week of intra uterine life and that of secondary palate by 12th week. The dermal ridges develop in relation to the volar pads, which are formed by the 6th week of gestation and reach maximum size between 12th and 13th weeks. This means that the genetic message contained in the genome - normal or abnormal is deciphered during this period and is also reflected by dermatoglyphics.Hence this study was done in order to observe the differences in dermatoglyphic patterns between the children with oral clefts and normal children and to determine the usefulness of dermatoglyphics in studying the genetic etiology of oral clefts.Dermatoglyphic data from 50 oral cleft children and 50 normal children were collected using the ink method and comparison was done between them. In the present study, we found an increase in the ulnar loop patterns on the distal phalanges of the ten fingers, an increase in the atd angle and an increase in the fluctuating asymmetry of the atd angle in the oral cleft children which indicates the degree of developmental instability of the oral cleft individual.

  18. Cleft palate caused by congenital teratoma.

    Science.gov (United States)

    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.

  19. Diagnosis and management of type I posterior laryngeal clefts.

    Science.gov (United States)

    Bakthavachalam, Sivi; Schroeder, James W; Holinger, Lauren D

    2010-04-01

    We review the diagnosis and management of type I posterior laryngeal clefts (PLCs). We performed a retrospective study at a tertiary-care children's hospital of children who were diagnosed with a PLC between January 2003 and August 2008. We studied concurrent airway anomalies, comorbidities, presenting symptoms, age at the time of aspiration resolution, and rate of aspiration resolution. Sixty-seven children with PLCs were identified (41 boys and 26 girls). Fifty-nine had type I clefts, 6 had type II, and 2 had type III. Of the 59 type I cases, 15 (25.4%) were surgically repaired by endoscopy. Eleven of these 15 children (73.3%) have had symptomatic improvement since the surgery, and 7 of those 11 (63.6%) are tolerating thin liquids by mouth. Two of the 15 (13.3%) displayed no improvement with surgery, and 2 of the 15 (13.3%) were lost to follow-up. Forty-four of the 59 type I clefts (74.6%) were managed nonsurgically. Twenty of these 44 children (45.5%) did not present with aspiration. Twenty-four of the 44 (54.5%) presented with aspiration, and 16 of the 24 (66.7%) are now tolerating thin liquids by mouth. Seven of these 24 patients (29.2%) are still aspirating, and 1 has died. The average time to resolution of aspiration was 7.8 months for the surgical group and 13.6 months for the nonsurgical group (p = 0.19). In the surgical group, the average age at resolution of aspiration for patients who received their diagnosis at 0 to 6 months of age was 21.5 months; that for those with a diagnosis at 6 to 12 months was 27.3 months; and that for those with a diagnosis at older than 12 months was 27.3 months (p = 0.31). In the nonsurgical group, the average age at resolution of aspiration for patients who received their diagnosis at 0 to 12 months of age was 15.8 months; that for those with a diagnosis at 12 to 24 months was 27.3 months; and that for those with a diagnosis at older than 24 months was 77.3 months (p = 0.0015). We found that (1) the reported incidence of

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

    Science.gov (United States)

    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 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.

  1. Patterns of tooth agenesis in patients with orofacial clefts

    NARCIS (Netherlands)

    Hermus, Ruurd R.; van Wijk, Arjen J.; Tan, Stephan P. K.; Kramer, Gem J. C.; Ongkosuwito, Edwin M.

    2013-01-01

    Orofacial clefts are a common oral disorder associated with tooth agenesis. As information on the simultaneous absence of teeth can be an aid in treatment planning, a large sample of orofacial cleft patients was examined. The sample consisted of 910 patients with cleft lip and palate. Tooth agenesis

  2. Isolated congenital palatal fistula without submucous cleft palate.

    Science.gov (United States)

    Karacan, Mehmet; Olgun, Haşim; Tan, Onder; Caner, Ibrahim

    2009-09-01

    Congenital fistula of the palate is a rare deformity. It has been generally associated with cleft palate. Treatment of cleft palate is surgical intervention. We present a child with congenital fistula of palate that was not associated with submucous cleft and closed spontaneously at 18 months.

  3. Spontaneous Facial Mimicry in Response to Dynamic Facial Expressions

    Science.gov (United States)

    Sato, Wataru; Yoshikawa, Sakiko

    2007-01-01

    Based on previous neuroscientific evidence indicating activation of the mirror neuron system in response to dynamic facial actions, we hypothesized that facial mimicry would occur while subjects viewed dynamic facial expressions. To test this hypothesis, dynamic/static facial expressions of anger/happiness were presented using computer-morphing…

  4. Sound-induced facial synkinesis following facial nerve paralysis

    NARCIS (Netherlands)

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

    2009-01-01

    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

  5. Síndrome brânquio-óculo-facial (BOFS e cardiopatias congênitas Síndrome branquio óculo facial (BOFS y cardiopatías congénitas Branchio-oculo-facial syndrome (BOFS and congenital heart defects

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2009-02-01

    Full Text Available Relatamos aqui o caso de um menino com 43 dias de vida, apresentando síndrome brânquio-óculo-facial (BOFS e cardiopatia congênita. Na avaliação clínica, ele possuía retardo de crescimento, pregas epicânticas, fendas palpebrais pequenas, telecanto, base nasal alargada, fenda labial falsa (pseudocleft, micrognatia, orelhas displásicas e rotadas posteriormente, fendas branquiais, pescoço curto e alado, mamilo extranumerário, hipotonia e reflexos tendinosos profundos diminuídos. A ecocardiografia verificou presença de um defeito do septo atrioventricular completo do tipo A e persistência do canal arterial. Essa descrição fortalece a possibilidade de que defeitos cardíacos congênitos possam fazer parte do espectro de anormalidades observado na BOFS.Relatamos en este estudio el caso de un niño con 43 días de vida, que presentaba síndrome branquio óculo facial (BOFS y cardiopatía congénita. En la evaluación clínica, revelaba retardo de crecimiento, pliegues epicánticos, hendiduras palpebrales pequeñas, telecanto, base nasal ensanchada, hendidura labial falsa (pseudocleft, micrognatia, orejas displásicas y rotadas posteriormente, hendiduras branquiales, cuello corto y alado, pezón extranumerario, hipotonía y reflejos tendinosos profundos diminuidos. La ecocardiografía verificó la presencia de un defecto del septo atrioventricular completo del tipo A y conducto arterial persistente. Dicha descripción fortalece la posibilidad de que defectos cardiacos congénitos puedan forman parte del espectro de anormalidades observado en la BOFS.We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia

  6. Immediate rehabilitation with feeding appliance of a three day old neonate with cleft lip and palate- a case report

    Directory of Open Access Journals (Sweden)

    Deepika Kapoor

    2017-07-01

    Full Text Available Orofacial clefts (OFC are one of the most common congenital problems seen with a very high incidence. It imparts a negative effect on the overall health of the child by hindering in his feeding practices, normal facial growth, development of dentition and hence speech. Infants born with orofacial clefts have oronasal communication which creates a problem with the creation of negative pressure inside the oral cavity required for suckling.The treatment for such patients is with the multidisciplinary approach but the preliminary  concern for the neonate is to help with the feeding for which a feeding appliance is given. This case report presents a case of a 3-day old infant to whom a feeding appliance was given to aid in suckling. 

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

    Science.gov (United States)

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

    2001-12-01

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

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

    Science.gov (United States)

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

    2013-01-01

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

  9. Genetics and Management of the Patient with Orofacial Cleft

    Directory of Open Access Journals (Sweden)

    Luciano Abreu Brito

    2012-01-01

    Full Text Available Cleft lip or palate (CL/P is a common facial defect present in 1 : 700 live births and results in substantial burden to patients. There are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and exposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood. Recent genome-wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient management, since the patient, followup may be partially influenced by their genetic background. This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist.

  10. The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

    Science.gov (United States)

    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...

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

    Science.gov (United States)

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

    2017-04-01

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

  12. Craniofacial morphology of children with complete unilateral cleft lip and palate following labioplasty and palatoplasty

    Directory of Open Access Journals (Sweden)

    Sigit Handoko Utomo

    2012-06-01

    Full Text Available Background: A complete unilateral cleft lip and palate generally results in asymmetry of the midface. The lack of continuity in the perilabial musculature through the midline contributes to a malpositioning of the underlying osseus structures which are often underdeveloped. Purpose: The purpose of this study was to determine whether there are differences in the craniofacial morphology among children with complete unilateral cleft lip and palate following labioplasty and palatoplasty as compared with children without cleft lip and palate at the same pubertal age. Methods: A series of 14 consecutively treated subjects with complete unilateral cleft lip and palate following labioplasty and palatoplasty were compared with 14 pubertal stage-matched controls with normal craniofacial structure. Pubertal stage was determined with cervical vertebral maturation (CVM method improved by Baccetti et al, 2002. Lateral cephalograms were used for comparison. An unpaired t-test was run for 14 subjects with complete unilateral cleft lip and palate and 14 normal subjects. Results: There were significant cephalometric differences in anterior cranial base length (p = .002, cranial base length (p = .001, maxillary length (p = .000, mandibular length (p = .000, mandibular ramus height (p = .000, mandibular body length (p = .002, and upper anterior face height (p = .004. There was no significant cephalometric difference in posterior cranial base length (p = .051, lower anterior face height (p = .206, posterior face height (p = .865, growth pattern/ facial type (p = .202. Conclusion: There were craniofacial morphology differences between children with complete unilateral cleft lip and palate post labioplasty and palatoplasty and children without cleft lip and palate at the age of pubertal. Children with complete unilateral cleft lip and palate post labioplasty and palatoplasty had shorter length of the anterior cranial base, cranial base, maxilla, mandible, mandibular

  13. Transmigration of mandibular second premolar in a patient with cleft lip and palate: case report

    Directory of Open Access Journals (Sweden)

    Daniel Berretta Moreira Alves

    2008-10-01

    Full Text Available Disturbances involving abnormalities in tooth eruption are named ectopia. Transmigration is the name assigned to ectopia in the presence of teeth in areas distant from the alveolar process. Initial angulation of the tooth bud of the second premolar and premature loss of permanent mandibular 1st molars can influence the distal migration of the second premolar. Some studies have observed that ectopic teeth can be found in a variety of places around the oral cavity and also in other areas of the human body. There are records of teeth in the maxillary sinus, mandibular condyle, coronoid process, mandibular angle, orbit, palate, mentum and also the skin. The prevalence of tooth abnormalities is higher in children with cleft lip and palate compared to children without clefts. This paper presents a case report of migration of the mandibular left second premolar in a patient attending the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC/USP, Brazil. Migration of the mandibular left 2nd premolar was confirmed by 8 panoramic and 1 periapical radiographs obtained during patient's treatment between 1978 and 2002, which were available in the files of the Department of Dental Radiology of HRAC/USP. It can be assumed that distal migration of the mandibular left 2nd premolar is not associated with presence of cleft lip and palate; observation of these two events in a same patient is rare, since no similar reported cases were found in the literature.

  14. A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction

    Directory of Open Access Journals (Sweden)

    M Pasupathy

    2016-01-01

    Full Text Available Acampomelic campomelic dysplasia (CD is a type of CD (CD; OMIM #114290, a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD. A child previously diagnosed with acampomelic CD was brought to our outpatient clinic for cleft palate reconstruction. Our neurosurgeon cautioned us against performing surgery with extension of the neck in view of the possibility of producing quadriparesis, due to narrowing of the spinal canal as part of the osseous anomaly noted in the magnetic resonance imaging study of the spine, thus making the anaesthesia, surgical and post-operative procedures difficult. The cleft palate reconstruction was performed with all precautions and was uneventful.

  15. Live facial feature extraction

    Institute of Scientific and Technical Information of China (English)

    ZHAO JieYu

    2008-01-01

    Precise facial feature extraction is essential to the high-level face recognition and expression analysis. This paper presents a novel method for the real-time geomet-ric facial feature extraction from live video. In this paper, the input image is viewed as a weighted graph. The segmentation of the pixels corresponding to the edges of facial components of the mouth, eyes, brows, and nose is implemented by means of random walks on the weighted graph. The graph has an 8-connected lattice structure and the weight value associated with each edge reflects the likelihood that a random walker will cross that edge. The random walks simulate an anisot-ropic diffusion process that filters out the noise while preserving the facial expres-sion pixels. The seeds for the segmentation are obtained from a color and motion detector. The segmented facial pixels are represented with linked lists in the origi-nal geometric form and grouped into different parts corresponding to facial com-ponents. For the convenience of implementing high-level vision, the geometric description of facial component pixels is further decomposed into shape and reg-istration information. Shape is defined as the geometric information that is invari-ant under the registration transformation, such as translation, rotation, and iso-tropic scale. Statistical shape analysis is carried out to capture global facial fea-tures where the Procrustes shape distance measure is adopted. A Bayesian ap-proach is used to incorporate high-level prior knowledge of face structure. Ex-perimental results show that the proposed method is capable of real-time extraction of precise geometric facial features from live video. The feature extraction is robust against the illumination changes, scale variation, head rotations, and hand inter-ference.

  16. Submucous cleft palate and the general practitioner

    Science.gov (United States)

    Lowry, R. B.; Courtemanche, A. D.; MacDonald, C.

    1973-01-01

    Submucous cleft palate refers to a situation where the soft palate is largely composed of mucosa with little or no muscle. The defect is often not obvious on inspection of the mouth and pharynx. There is considerable clinical variation, with speech ranging from normal or minimal nasality to severe nasality and defective articulation. Many patients who have latent submucous cleft palate have the condition unmasked by an adenoidectomy because the adenoid pad had served as a compensatory factor in effecting palatopharyngeal closure. All physicians who perform tonsillectomy and adenoidectomy should be aware of the signs and symptoms which may suggest the diagnosis. ImagesFIG. 2 PMID:4758872

  17. Nutritional standard for children with orofacial clefts.

    Science.gov (United States)

    Rowicka, Grażyna; Weker, Halina

    2014-01-01

    Treatment of children with orofacial clefts is a multi-stage process, usually extending over many years and requiring intervention of numerous specialists. Most of the problems in such children before the tissue reconstruction surgery are related to feeding and airway protection during swallowing. Feeding of children with orofacial clefts is the more difficult the more severe the defect is. Such children are at an increased risk of body weight deficit and malnutrition. The aim of the study is to present the nutritional standard for children with orofacial clefts. Feeding principles for children with orofacial clefts: If the clinical state of the child and the emotional state of the mother allow, children with orofacial clefts should be breastfed or bottle-fed with breast milk. If feeding with breast milk is not possible, children should receive appropriate formulas for infants. Their diet can usually be expanded at the same time as in healthy infants and should comply with the nutritional model or standard for children aged 6-12 months. Various feeding techniques are used in children with orofacial clefts, depending not only on the type of the defect, but also the experience of the institution taking care of the child. Such children may require a diet with higher calories due to their increased energy expenditure related to eating. In the case of body weight deficit and/or malnutrition resulting from inadequate diet, a change of the feeding technique should be considered, and, subsequently, a diet modification. The modification may mean an extra formula feeding (in children fed with breast milk) or earlier introduction of supplementary foods. Sometimes a different feeding method than oral feeding must be used, e.g. through a naso-gastric tube or, in extreme cases, a feeding stoma. It is of utmost importance that infants with the said defects gain the optimal body weight before the planned operation, since malnutrition may be a significant reason for delaying the

  18. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-07-01

    Full Text Available We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

  19. PCA facial expression recognition

    Science.gov (United States)

    El-Hori, Inas H.; El-Momen, Zahraa K.; Ganoun, Ali

    2013-12-01

    This paper explores and compares techniques for automatically recognizing facial actions in sequences of images. The comparative study of Facial Expression Recognition (FER) techniques namely Principal Component's analysis (PCA) and PCA with Gabor filters (GF) is done. The objective of this research is to show that PCA with Gabor filters is superior to the first technique in terms of recognition rate. To test and evaluates their performance, experiments are performed using real database by both techniques. The universally accepted five principal emotions to be recognized are: Happy, Sad, Disgust and Angry along with Neutral. The recognition rates are obtained on all the facial expressions.

  20. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.

    NARCIS (Netherlands)

    Morava, E.; Jackson, K.E.; Tsien, F.; Marble, M.R.

    2004-01-01

    Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small

  1. Possible sex-discriminant variables in craniofacial growth in clefting.

    Science.gov (United States)

    Long, R E; Jain, R B; Krogman, W M

    1982-11-01

    In this investigation, 174 patients with orofacial clefts were examined for identification of possible sex differences in craniodentofacial measurements. The patients were selected from the longitudinal growth files of the H. K. Cooper Clinic. Records available for analysis were serial lateral cephalometric radiographs from the age of 1 month to 10 years. Patients were grouped by cleft type and sex within each cleft group (78 cleft palate only, 64 unilateral cleft of lip and palate, 32 bilateral cleft of lip and palate). Stepwise discriminant analysis of fourteen linear and angular craniofacial dimensions was used to identify those variables which contributed to sex differences within each cleft group over the growth/time intervals examined. Results suggested the possibility of sex-related differences in growth timing, that is, earlier maturation and growth in females in several craniofacial areas which did not appear to be related to the presence, absence, or type of cleft but which could possibly modify cleft-specific responses to treatment (cranial base dimensions, face heights). Other sex-related differences appeared to be more specifically related to known sex differences in original cleft type and severity (mandibular size and position, midfacial dimensions). The manner in which these various sex factors interface with environmental and therapeutic influences in producing the ultimate craniodentofacial morphology in a given sex and cleft type is discussed.

  2. The incidence, classification, etiology, and embryology of oral clefts.

    Science.gov (United States)

    Thornton, J B; Nimer, S; Howard, P S

    1996-09-01

    There are numerous problems encountered among individuals with a cleft lip and/or cleft palate. Addressing these problems necessitates a multidisciplinary approach, requiring a team of experts to facilitate care for these individuals. Dentists play a vital role on the team. An orthodontist, pediatric dentist, oral maxillofacial surgeon, and prosthodontist usually represent the dental members of the team. The success of this team depends on expertise within each discipline but also depends on each member having a broad base of knowledge in general about oral clefts. An understanding of other disciplines and how they approach the treatment of oral clefts is important for each team member. Also, each team representative should appreciate the need to understand the causes of oral clefts, how clefts develop in utero, how various populations are affected, and how to recognize and classify an oral cleft. It is difficult to communicate effectively within the team if we fail to recognize the importance of expanding our knowledge to include other aspects of oral clefts beyond treatment perspectives. This article provides the orthodontist with basic information as it relates to the etiology of oral clefts (ie, genetics, teratogens, and medical conditions), the demographics and incidence of oral clefts, the embryology and classification of clefts.

  3. Surgical Treatment of Facial Paralysis

    OpenAIRE

    Mehta, Ritvik P.

    2009-01-01

    The management of facial paralysis is one of the most complex areas of reconstructive surgery. Given the wide variety of functional and cosmetic deficits in the facial paralysis patient, the reconstructive surgeon requires a thorough understanding of the surgical techniques available to treat this condition. This review article will focus on surgical management of facial paralysis and the treatment options available for acute facial paralysis (2 yr). For acute facial paralysis, the main surgi...

  4. Parents' age and the risk of oral clefts

    DEFF Research Database (Denmark)

    Bille, C.; Skytthe, A.; Vach, W.

    2005-01-01

    . In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age......BACKGROUND: Some malformations are clearly associated with older maternal age, but the effect of older age of the father is less certain. The aim of this study is to determine the degree to which maternal age and paternal age independently influence the risk of having a child with oral clefts...... as a risk factor. CONCLUSION: Both high maternal age and high paternal age were associated with cleft lip with or without cleft palate. Higher paternal age but not maternal age increased the risk of cleft palate only....

  5. Lexical selectivity in danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    Objective : To study if Danish children with cleft palate display lexical selectivity in their early lexicon at 18 months of age. Design : A cross-sectional study. Participants : Thirty-four children with unilateral cleft lip and palate and 35 children without cleft palate, matched for gender...... also analyzed with respect to word productions, establishing an observed productive vocabulary size for each participant. Results : At 18 months of age Danish children with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months...... of age in a previous study of the children with cleft palate was almost perfectly reflected in their early lexicon at 18 months. The early lexicon of children with cleft palate differed from the early lexicon of their noncleft peers. Conclusions and Implications : Danish toddlers with cleft palate...

  6. Competing Orders and Anomalies

    Science.gov (United States)

    Moon, Eun-Gook

    2016-08-01

    A conservation law is one of the most fundamental properties in nature, but a certain class of conservation “laws” could be spoiled by intrinsic quantum mechanical effects, so-called quantum anomalies. Profound properties of the anomalies have deepened our understanding in quantum many body systems. Here, we investigate quantum anomaly effects in quantum phase transitions between competing orders and striking consequences of their presence. We explicitly calculate topological nature of anomalies of non-linear sigma models (NLSMs) with the Wess-Zumino-Witten (WZW) terms. The non-perturbative nature is directly related with the ’t Hooft anomaly matching condition: anomalies are conserved in renormalization group flow. By applying the matching condition, we show massless excitations are enforced by the anomalies in a whole phase diagram in sharp contrast to the case of the Landau-Ginzburg-Wilson theory which only has massive excitations in symmetric phases. Furthermore, we find non-perturbative criteria to characterize quantum phase transitions between competing orders. For example, in 4D, we show the two competing order parameter theories, CP(1) and the NLSM with WZW, describe different universality class. Physical realizations and experimental implication of the anomalies are also discussed.

  7. Anomaly-induced baryogenesis

    CERN Document Server

    Kobakhidze, A

    2004-01-01

    We propose a new mechanism for dynamical generation of the observed baryon asymmetry within the minimal Standard model extended by massive Majorana neutrinos and non-vanishing electroweak Chern-Simons term. We show that electroweak Chern-Simons number is produced in the expanding universe due to the conformal anomaly and subsequently converted into baryon number through the triangle anomaly.

  8. Competing Orders and Anomalies.

    Science.gov (United States)

    Moon, Eun-Gook

    2016-08-08

    A conservation law is one of the most fundamental properties in nature, but a certain class of conservation "laws" could be spoiled by intrinsic quantum mechanical effects, so-called quantum anomalies. Profound properties of the anomalies have deepened our understanding in quantum many body systems. Here, we investigate quantum anomaly effects in quantum phase transitions between competing orders and striking consequences of their presence. We explicitly calculate topological nature of anomalies of non-linear sigma models (NLSMs) with the Wess-Zumino-Witten (WZW) terms. The non-perturbative nature is directly related with the 't Hooft anomaly matching condition: anomalies are conserved in renormalization group flow. By applying the matching condition, we show massless excitations are enforced by the anomalies in a whole phase diagram in sharp contrast to the case of the Landau-Ginzburg-Wilson theory which only has massive excitations in symmetric phases. Furthermore, we find non-perturbative criteria to characterize quantum phase transitions between competing orders. For example, in 4D, we show the two competing order parameter theories, CP(1) and the NLSM with WZW, describe different universality class. Physical realizations and experimental implication of the anomalies are also discussed.

  9. Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2010-01-01

    BACKGROUND: Cleft lip only (CLO) and cleft lip and palate (CLP) are commonly regarded as variants of the same defect and are traditionally combined to form the single group of cleft lip with or without cleft palate (CL/P) prior to analysis. However, recent data have suggested that at least...... a subgroup of isolated CLO may be etiologically distinct from isolated CLP. METHODS: To explore fetal genetic risk of isolated CLO separately from isolated CLP, we performed a subphenotype analysis using two population-based studies of clefts in Scandinavia. One hundred twenty-one isolated CLO, 190 isolated...... CLP, and 592 control triads were available from Norway (1996-2001), and a further 76 isolated CLO and 107 isolated CLP triads were available from Denmark (1991-2001). Genotypes for 1315 SNPs in 334 autosomal cleft candidate genes were analyzed using two complementary statistical methods, Triad Multi...

  10. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete

    2016-01-01

    , clinical features, consequences, central and peripheral mechanisms, diagnostic criteria (DC/TMD), and principles of management. For each of the neuropathic facial pain entities, the definitions, prevalence, clinical features, and diagnostics are described. The current understanding of the pathophysiology......Persistent facial pains, especially temporomandibular disorders (TMD), are common conditions. As dentists are responsible for the treatment of most of these disorders, up-to date knowledge on the latest advances in the field is essential for successful diagnosis and management. The review covers...... TMD, and different neuropathic or putative neuropathic facial pains such as persistent idiopathic facial pain and atypical odontalgia, trigeminal neuralgia and painful posttraumatic trigeminal neuropathy. The article presents an overview of TMD pain as a biopsychosocial condition, its prevalence...

  11. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete

    2016-01-01

    TMD, and different neuropathic or putative neuropathic facial pains such as persistent idiopathic facial pain and atypical odontalgia, trigeminal neuralgia and painful posttraumatic trigeminal neuropathy. The article presents an overview of TMD pain as a biopsychosocial condition, its prevalence......Persistent facial pains, especially temporomandibular disorders (TMD), are common conditions. As dentists are responsible for the treatment of most of these disorders, up-to date knowledge on the latest advances in the field is essential for successful diagnosis and management. The review covers......, clinical features, consequences, central and peripheral mechanisms, diagnostic criteria (DC/TMD), and principles of management. For each of the neuropathic facial pain entities, the definitions, prevalence, clinical features, and diagnostics are described. The current understanding of the pathophysiology...

  12. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete;

    2016-01-01

    , clinical features, consequences, central and peripheral mechanisms, diagnostic criteria (DC/TMD), and principles of management. For each of the neuropathic facial pain entities, the definitions, prevalence, clinical features, and diagnostics are described. The current understanding of the pathophysiology...

  13. Hearing outcomes in patients with cleft lip/palate.

    Science.gov (United States)

    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.

  14. Management of facial blushing

    DEFF Research Database (Denmark)

    Licht, Peter B; Pilegaard, Hans K

    2008-01-01

    people. Side effects are frequent, but most patients are satisfied with the operation. In the short term, the key to success in sympathetic surgery for facial blushing lies in a meticulous and critical patient selection and in ensuring that the patient is thoroughly informed about the high risk of side...... effects. In the long term, the key to success in sympathetic surgery for facial blushing lies in more quality research comparing surgical, pharmacologic, and psychotherapeutic treatments....

  15. Simultaneous facial feature tracking and facial expression recognition.

    Science.gov (United States)

    Li, Yongqiang; Wang, Shangfei; Zhao, Yongping; Ji, Qiang

    2013-07-01

    The tracking and recognition of facial activities from images or videos have attracted great attention in computer vision field. Facial activities are characterized by three levels. First, in the bottom level, facial feature points around each facial component, i.e., eyebrow, mouth, etc., capture the detailed face shape information. Second, in the middle level, facial action units, defined in the facial action coding system, represent the contraction of a specific set of facial muscles, i.e., lid tightener, eyebrow raiser, etc. Finally, in the top level, six prototypical facial expressions represent the global facial muscle movement and are commonly used to describe the human emotion states. In contrast to the mainstream approaches, which usually only focus on one or two levels of facial activities, and track (or recognize) them separately, this paper introduces a unified probabilistic framework based on the dynamic Bayesian network to simultaneously and coherently represent the facial evolvement in different levels, their interactions and their observations. Advanced machine learning methods are introduced to learn the model based on both training data and subjective prior knowledge. Given the model and the measurements of facial motions, all three levels of facial activities are simultaneously recognized through a probabilistic inference. Extensive experiments are performed to illustrate the feasibility and effectiveness of the proposed model on all three level facial activities.

  16. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis.

    Science.gov (United States)

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A

    2015-06-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5-7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, right ventricular diverticulum, double right ventricular outflow tract and tetralogy of Fallot. Extracardiac anomalies associated with ectopia cordis reported in the literature include omphalocele, gastrochisis, cleft lip and palate, scollosis and central nervous system malformations. Here we report a newborn with ectopia cordis who was diagnosed prenatally.

  17. A Case with Microphthalmia and Multiple Congenital Anomalies

    Directory of Open Access Journals (Sweden)

    Ayça Sarı

    2013-12-01

    Full Text Available We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital dysplasia, oculofaciocardiodental syndrome, and Lenz microphthalmia syndrome. Our patient’s clinical features also involved microcephaly, cleft palate, developmental delay, digital and urogenital anomalies, cardiac septal defects and hearing loss, which diagnosis is mostly consistent with the Lenz microphthalmia syndrome. Lenz microphthalmia syndrome is a very rare conditions and their expressions are more often in countries with high rates of consanguineous marriages. Hence, recognizing such rare syndromes in patients with multiple congenital anomalies is essential. (Turk J Ophthalmol 2013; 43: 468-70

  18. Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wang Guangbin, E-mail: wgb7932596@hotmail.com [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China); Shan Ruiqin [Jinan Maternity and Child Care Hospital, Jinan (China); Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China)

    2011-09-15

    Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

  19. Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts.

    Science.gov (United States)

    Wyszynski, D F; Beaty, T H

    1996-05-01

    Oral clefts are common birth defects affecting approximately 1 every 1,000 caucasian newborns. While many syndromes with cleft lip with or without cleft palate (CL/P) or with cleft palate (CP) are recognized, the majority of oral clefts fall into the category of "nonsyndromic oral clefts" and the etiology of this group remains incompletely understood. Investigators agree that oral clefts are multifactorial in origin, with both genetic and environmental factors in their etiology. While animal models have identified several teratogens for oral clefts, their precise relevance for humans remains unclear. The goal of this work is to review literature on environmental exposures potentially associated with non-syndromic oral clefts.

  20. Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side.

    Science.gov (United States)

    Ahmed, Saleem; Al-Aama, Jumana Yousef

    2012-07-13

    The authors describe a case of Cenani-Lenz syndrome, in a 3-month-old girl of non-consanguineous parents of Afghani origin. Digital anomalies consist of sandactyly of the fingers of both hands, disorganised phalanges more severe involvement of the left side without radioulnar synostosis. Although our patient lacks facial dysmorphic features reported previously. The cases of patients with CLS need to be carefully evaluated and described to determine if there is distinctive accompanying facial phenotype.