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Van der Woude syndrome: dentofacial features and implications for clinical practice
A K Lam1, D J David, G C Townsend
1School of Dentistry, The University of Adelaide, South Australia, Australia.
Australian Dental Journal
|April 27, 2010
Summary
Van der Woude syndrome (VWS), a common genetic disorder, often presents with lower lip pits and a high prevalence of missing teeth. Early diagnosis is crucial for managing associated clefting and dental issues.
Area of Science:
- Genetics
- Craniofacial Anomalies
- Pediatric Dentistry
Background:
- Van der Woude syndrome (VWS) is the most common human clefting syndrome, characterized by congenital lower lip fistulae and cleft lip/palate.
- VWS exhibits variable phenotypic expression despite a single gene mutation, often including hypodontia (missing teeth).
Purpose of the Study:
- To describe the clinical presentations in 22 individuals with VWS.
- To aid in the diagnosis of Van der Woude syndrome.
Main Methods:
- Retrospective study of 22 patients diagnosed with VWS.
- Inclusion of three extended families with affected members.
Main Results:
- High prevalence of lip pits (86%) and hypodontia (86%) in the study cohort.
- Various cleft phenotypes observed: bilateral cleft lip and palate (32%), unilateral cleft lip and palate (32%), submucous cleft palate (23%), and isolated cleft hard and soft palate (9%).
Conclusions:
- Submucous cleft palate in VWS may be missed if lower lip pits are not identified.
- Hypodontia and malocclusions associated with VWS necessitate dental team management.
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