RESUMO
Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited developmental disorder that is characterized by pits and/or sinuses of the lower lip and cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS, with more than 60 mutations reported. We report the phenotypic variants of the syndrome in a family and present the application of the multicolor chromosome banding (mBAND) analysis in the identification of complex intrachromosome rearrangements of chromosome 9 in a child with VWS. The authors conclude that increased heterochromatin on chromosome 9 did not have any effect on the phenotypic expression of the syndrome in the family that was studied.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 9/genética , Lábio/anormalidades , Fístula Bucal/genética , Criança , Bandeamento Cromossômico/métodos , Fenda Labial/genética , Fissura Palatina/genética , Heterogeneidade Genética , Heterocromatina , Humanos , Hibridização in Situ Fluorescente , Fatores Reguladores de Interferon/genética , Cariotipagem , Escore Lod , Masculino , Linhagem , SíndromeRESUMO
BACKGROUND: Van der Woude syndrome (VWS) is the most common clefting syndrome in humans. It is characterized by the association of congenital lower lip fistulae with cleft lip and/or cleft palate. VWS individuals have a high prevalence of hypodontia. Although caused by a single gene mutation, VWS has variable phenotypic expression. This study aimed to describe the range of clinical presentations in 22 individuals with VWS to facilitate its diagnosis. METHODS: A retrospective study of 22 patients with a diagnosis of VWS was undertaken at the Australian Craniofacial Unit (ACFU) in Adelaide. Three extended families with affected members were included in the study cohort. RESULTS: The overall prevalence of lip pits in this study cohort was 86%. Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral cleft lip and palate (32%); submucous cleft palate (23%); and isolated cleft hard and soft palate (9%). Missing permanent teeth were reported in 86% of affected individuals. CONCLUSIONS: Submucous cleft palate in VWS may go undiagnosed if the lower lip pits are not detected. Associated hypodontia and resultant malocclusions will also require management by a dental team.
Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Doenças Labiais/congênito , Lábio/anormalidades , Fístula Bucal/congênito , Anodontia/epidemiologia , Fenda Labial/genética , Fissura Palatina/genética , Estudos de Coortes , Feminino , Genes Dominantes/genética , Humanos , Doenças Labiais/epidemiologia , Doenças Labiais/genética , Masculino , Fístula Bucal/epidemiologia , Fístula Bucal/genética , Palato Mole/anormalidades , Linhagem , Penetrância , Fenótipo , Prevalência , Estudos Retrospectivos , Austrália do Sul/epidemiologia , SíndromeRESUMO
Van der Woude syndrome (VWS) is a dominantly inherited disease of orofacial region. Characteristic features of this syndrome are bilateral lower lip sinuses along with cleft lip or palate deformity. However, isolated lower lip pits in VWS without any cleft syndrome is uncommon. Lip pits in VWS are usually asymptomatic; however, patients may complain of watery drainage and/or infection. In this report, asymptomatic isolated lower lip sinuses without any cleft syndrome in a patient and his father are presented.
Assuntos
Doenças Labiais/genética , Fístula Bucal/genética , Fenda Labial/patologia , Fissura Palatina/patologia , Diagnóstico Diferencial , Humanos , Lábio/anormalidades , Masculino , Síndrome , Adulto JovemRESUMO
Congenital pits of the lower lip constitute a rare developmental malformation, transmitted by an autosomal dominant mode, with considerable heterogeneity as regards the expression of the disorder. They are present in van der Woude syndrome (VWS), in which clefts of the upper lip and/or palate are often observed. Literature related to the various parameters associated with and relevant to the disorder is extensive. The purpose of this review is to cover, synthesize and categorize the existing knowledge into distinct entities, in order to facilitate understanding of the aetiopathogenesis of the malformation, its clinical manifestations and histological features, the epidemiology of the syndromic situation and the fundamental approach to an integral differential diagnosis. Special emphasis is given to the rationale underlying the treatment modalities that have been suggested, and the necessity for appropriate genetic counselling, as the disorder shows a high affinity with clefts and a familial type of occurrence.
Assuntos
Fenda Labial/patologia , Fissura Palatina/patologia , Doenças Labiais/congênito , Fenda Labial/genética , Fissura Palatina/genética , Diagnóstico Diferencial , Aconselhamento Genético , Humanos , Doenças Labiais/genética , Fístula Bucal/congênito , Fístula Bucal/genética , Fenótipo , SíndromeRESUMO
Eight families with the combination of cleft lip and/or cleft palate plus lower lip pits including their microforms were examined with the aim of characterization of microsymptoms. Hypodontia as a further symptom was also taken into consideration. Each of the symptoms was also noted separately in relatives of the patients and are to be considered as a genetic equivalent of the complete form of the autosomal-dominant inherited Van der Woude's syndrome. Knowledge of the variable expression of the basic gene is crucial for risk assessment in family counselling and also for distinguishing from clefts of other genesis with lower recurrence risk.
