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.
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.
Authors: Ophir D Klein; Snehlata Oberoi; Ann Huysseune; Maria Hovorakova; Miroslav Peterka; Renata Peterkova Journal: Am J Med Genet C Semin Med Genet Date: 2013-10-04 Impact factor: 3.908
Authors: Olutayo James; Wasiu L Adeyemo; Christian I Emeka; Mobolanle O Ogunlewe; Akinola L Ladeinde; Azeez Butali Journal: Afr J Paediatr Surg Date: 2014 Jan-Mar
Authors: Azeez Butali; Peter A Mossey; Wasiu L Adeyemo; Mekonen A Eshete; LauRen A Gaines; Dee Even; Ramat O Braimah; Babatunde S Aregbesola; Jennifer V Rigdon; Christian I Emeka; Olutayo James; Mobolanle O Ogunlewe; Akinola L Ladeinde; Fikre Abate; Taye Hailu; Ibrahim Mohammed; Paul E Gravem; Milliard Deribew; Mulualem Gesses; Adebowale A Adeyemo; Jeffrey C Murray Journal: Mol Genet Genomic Med Date: 2014-01-27 Impact factor: 2.183