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Related Experiment Videos

Congenital lower lip pits: a case report.

A Souissi1, D El Euch, M Mokni

  • 1Dermatology Unit, la Rabta hospital, Tunis. amel_souissi@yahoo.fr

Dermatology Online Journal
|November 9, 2004
PubMed
Summary
This summary is machine-generated.

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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.

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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.