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Congenital lower lip pits: a case report
Dermatology Online Journal
|November 9, 2004
Summary
Van der Woude syndrome, a genetic disorder, often causes cleft lip/palate and lip pits. This case highlights isolated lip pits as a sole manifestation in a family with this variable condition.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial anomalies
Background:
- Van der Woude syndrome is an autosomal-dominant disorder.
- It is characterized by cleft lip/palate and lower lip pits.
- Phenotypic variability is a hallmark of this syndrome.
Observation:
- A case of Van der Woud syndrome is presented.
- The patient is an adolescent female.
- The syndrome manifested solely as isolated lower lip pits.
Findings:
- The affected adolescent exhibited isolated lower lip pits.
- Other family members presented with similar manifestations.
- This presentation underscores the variable expressivity of Van der Woud syndrome.
Implications:
- Recognizing isolated lip pits is crucial for diagnosing Van der Woud syndrome.
- Genetic counseling is important for affected families.
- Further research into genotype-phenotype correlations is warranted.
