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Van der Woude syndrome in twins.
Cenk Tokat1, Ufuk Bilkay, Ecmel Songur
1Ege University Plastic and Reconstructive Surgery Department, Bornova-Izmir, Turkey. cenktokat@hotmail.com
The Journal of Craniofacial Surgery
|September 30, 2005
Summary
This study examines monozygotic twins with Van der Woude syndrome, a common cause of cleft lip and palate. Both twins presented with identical symptoms, highlighting the syndrome
Area of Science:
- Genetics
- Developmental Biology
- Medical Science
Background:
- Van der Woude syndrome is the most frequent genetic cause of syndromic cleft lip and palate.
- It follows an autosomal dominant inheritance pattern with high penetrance and variable expressivity.
- Key clinical features include lip pits, cleft lip, and/or cleft palate.
Observation:
- This report details monozygotic twins exhibiting concordant manifestations of Van der Woude syndrome.
- The twins presented with identical clinical features, indicating a strong genetic influence.
Findings:
- Identified mutations contribute to the etiology of Van der Woude syndrome.
- The syndrome's genetic basis and inheritance patterns are crucial for understanding its occurrence.
Implications:
- Genetic counseling is vital for patients and families to understand inheritance risks.
- This case contributes to the limited literature on monozygotic twins with Van der Woude syndrome.
- Further research into genetic factors can inform diagnostic and therapeutic strategies.