Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/61082
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Type: Journal article
Title: Van der Woude syndrome: dentofacial features and implications for clinical practice
Author: Lam, A.
David, D.
Townsend, G.
Anderson, P.
Citation: Australian Dental Journal, 2010; 55(1):51-58
Publisher: Australian Dental Assn Inc
Issue Date: 2010
ISSN: 0045-0421
1834-7819
Statement of
Responsibility: 
A.K. Lam, D.J. David, G.C. Townsend, P.J. Anderson
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.
Keywords: Cleft
diagnosis
genetic counselling
hypodontia
lip pits
Rights: © 2010 Australian Dental Association
DOI: 10.1111/j.1834-7819.2009.01178.x
Appears in Collections:Aurora harvest
Dentistry publications

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