Van der Woude syndrome: dentofacial features and implications for clinical practice

Date

2010

Authors

Lam, A.
David, D.
Townsend, G.
Anderson, P.

Editors

Advisors

Journal Title

Journal ISSN

Volume Title

Type:

Journal article

Citation

Australian Dental Journal, 2010; 55(1):51-58

Statement of Responsibility

A.K. Lam, D.J. David, G.C. Townsend, P.J. Anderson

Conference Name

Abstract

<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.

School/Discipline

Dissertation Note

Provenance

Description

Access Status

Rights

© 2010 Australian Dental Association

License

Grant ID

Call number

Persistent link to this record