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Related Experiment Videos

Phenotypic variability in van der Woude syndrome

D Lacombe1, J M Pedespan, D Fontan

  • 1Department of Medical Genetics, Pellegrin-Children's Hospital, University of Bordeaux II, France.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1995
PubMed
Summary

Van der Woude syndrome (VWS), characterized by lower lip pits and clefting, displays variable symptoms and genetic links. This study highlights VWS

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Van der Woude syndrome (VWS) is defined by the association of lower lip pits with cleft lip and/or palate.
  • It exhibits autosomal dominant inheritance with high penetrance and variable expression.
  • Genetic linkage points to chromosome 1q32-q41, suggesting a role in neural crest cell development.

Purpose of the Study:

  • To report four cases of Van der Woude syndrome.
  • To illustrate the wide clinical variability associated with VWS.
  • To explore potential central nervous system involvement in VWS.

Main Methods:

  • Clinical case reporting.
  • Review of patient phenotypes.
  • Genetic locus analysis (implied).

Main Results:

  • Four cases of VWS were presented, showcasing diverse clinical manifestations.
  • One case exhibited brain abnormalities, expanding the known spectrum of VWS.
  • Associated anomalies like dental defects and limb abnormalities were noted.

Conclusions:

  • Van der Woude syndrome presents with significant clinical variability.
  • Brain abnormalities may be part of the VWS clinical spectrum.
  • Further research is needed to fully elucidate the genetic and developmental underpinnings of VWS.

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