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Van der Woude syndrome. A case report

R Vignale1, J Araujo, G Pascal

  • 1Departamento de Dermatología y Cirugía Plástica, Hospital de Pediatría Pereira Rossell, Ministerio de Salud Publica, Montevideo, Uruguay.

Pediatric Dermatology
|January 6, 1999
PubMed
Summary

Van der Woude syndrome, a genetic disorder, presents with facial malformations like cleft lip/palate and lip pits. This study details its varied presentation and histopathology in an affected family.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Van der Woude syndrome is an autosomal dominant genetic disorder.
  • Characterized by lip pits, cleft lip, and/or cleft palate.
  • Exhibits variable expressivity and 70-80% penetrance.

Observation:

  • An eight-member family with diverse clinical manifestations of Van der Woude syndrome was studied.
  • All family members presented with cleft lip and palate.
  • Facial malformations included lip pits, ranging from conical elevations to extensive depressions.

Findings:

  • Detailed clinical characteristics of the eight affected individuals were documented.
  • Histopathologic and immunohistochemical analyses of affected tissues were performed.

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  • The study provides insights into the cellular and tissue-level features of the syndrome.

    • Implications:

    • Enhances understanding of Van der Woude syndrome's genetic basis and phenotypic variability.
    • Contributes to the histopathological database for congenital orofacial malformations.
    • Informs genetic counseling and clinical management strategies for affected families.