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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 |
Published version: | http://dx.doi.org/10.1111/j.1834-7819.2009.01178.x |
Appears in Collections: | Aurora harvest Dentistry publications |
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