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Van der Woude syndrome: dentofacial features and implications for clinical practice |
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| Authors: | AK Lam,DJ David&dagger &Dagger ,GC Townsend,PJ Anderson&dagger |
| Affiliation: | School of Dentistry, The University of Adelaide, South Australia.; The Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, South Australia.; Discipline of Surgery, Faculty of Health Sciences, The University of Adelaide, South Australia. |
| Abstract: | 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. |
| Keywords: | Cleft diagnosis genetic counselling hypodontia lip pits |