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Van der Woude syndrome: a case report.

P Arangannal1, M S Muthu, L Nirmal

  • 1Dept. of Pediatric & Preventive Dentistry, Shri Ramchandra Dental College and Hospital Chennai, Porur. ,

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|November 19, 2002
PubMed
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Van der Woude syndrome, a genetic condition, links cleft lip and/or palate with lower lip pits. This case study highlights the syndrome in an 11-year-old boy and his sister, emphasizing its hereditary nature.

Area of Science:

  • Genetics
  • Oral and Maxillofacial Surgery
  • Pediatric Dentistry

Background:

  • Cleft lip and palate are common congenital anomalies affecting oral and perioral structures.
  • Van der Woude syndrome is a well-documented genetic disorder associated with clefting.
  • The syndrome is characterized by the presence of cleft lip and/or palate combined with lower lip pits.

Observation:

  • A familial case of Van der Woude syndrome is presented.
  • The affected individuals include an 11-year-old boy and his sister.
  • Clinical presentation involves both cleft lip/palate and characteristic lip pits.

Findings:

  • The case confirms the genetic linkage between cleft lip/palate and lower lip pits in Van der Woude syndrome.
  • The presentation in siblings suggests an autosomal dominant inheritance pattern, common for this syndrome.

Related Experiment Videos

  • Diagnostic features include the distinct morphology of the lower lip pits.
  • Implications:

    • Early diagnosis of Van der Woude syndrome is crucial for timely intervention and management of associated conditions.
    • Understanding the genetic basis aids in genetic counseling for affected families.
    • This case contributes to the literature on the clinical variability and inheritance patterns of Van der Woude syndrome.