Van der Woude syndrome: dentofacial features and implications for clinical practice
| dc.contributor.author | Lam, A. | |
| dc.contributor.author | David, D. | |
| dc.contributor.author | Townsend, G. | |
| dc.contributor.author | Anderson, P. | |
| dc.date.issued | 2010 | |
| dc.description.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. | |
| dc.description.statementofresponsibility | A.K. Lam, D.J. David, G.C. Townsend, P.J. Anderson | |
| dc.identifier.citation | Australian Dental Journal, 2010; 55(1):51-58 | |
| dc.identifier.doi | 10.1111/j.1834-7819.2009.01178.x | |
| dc.identifier.issn | 0045-0421 | |
| dc.identifier.issn | 1834-7819 | |
| dc.identifier.orcid | Anderson, P. [0000-0002-3730-4652] | |
| dc.identifier.uri | http://hdl.handle.net/2440/61082 | |
| dc.language.iso | en | |
| dc.publisher | Australian Dental Assn Inc | |
| dc.rights | © 2010 Australian Dental Association | |
| dc.source.uri | https://doi.org/10.1111/j.1834-7819.2009.01178.x | |
| dc.subject | Cleft | |
| dc.subject | diagnosis | |
| dc.subject | genetic counselling | |
| dc.subject | hypodontia | |
| dc.subject | lip pits | |
| dc.title | Van der Woude syndrome: dentofacial features and implications for clinical practice | |
| dc.type | Journal article | |
| pubs.publication-status | Published |