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Related Experiment Videos

Three siblings with Walker-Warburg Syndrome

A Bornemann1, R Pfeiffer, E Beinder

  • 1Department of Pathology, University of Erlangen, Germany.

General & Diagnostic Pathology
|May 1, 1996
PubMed
Summary

Walker-Warburg syndrome (WWS) is a rare genetic disorder. This study investigates WWS diagnostic criteria in fetuses, finding prenatal diagnosis challenging but possible with family history and advanced imaging.

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Area of Science:

  • Genetics and rare diseases
  • Prenatal diagnosis
  • Neurology and ophthalmology

Background:

  • Walker-Warburg syndrome (WWS) is an autosomal recessive cerebro-ocular-muscular syndrome.
  • Established diagnostic criteria exist for newborns/infants, but fetal diagnosis is challenging.
  • The gene locus for WWS remains unidentified.

Purpose of the Study:

  • To evaluate the sufficiency of current WWS diagnostic criteria for fetal diagnosis.
  • To report on a family with multiple affected siblings diagnosed with WWS.

Main Methods:

  • Clinical examination and postmortem analysis of affected neonates and fetuses.
  • Ultrasonographic examination during pregnancy to detect fetal abnormalities.
  • Review of established diagnostic criteria for Walker-Warburg syndrome.

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Main Results:

  • Two siblings presented with neonatal seizures, eye abnormalities, and skeletal dysplasias.
  • Postmortem findings included type II lissencephaly, buphthalmos, and retinal abnormalities.
  • Fetal ultrasonography identified bilateral cataracts at 17 weeks gestation; postmortem confirmed type II lissencephaly and cataracts.

Conclusions:

  • Prenatal diagnosis of WWS is possible but requires a high index of suspicion and consideration of family history.
  • Ultrasonography can detect key fetal abnormalities associated with WWS.
  • Further research is needed to refine diagnostic criteria for fetal cases of Walker-Warburg syndrome.