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Williams syndrome: autosomal dominant inheritance

C A Morris1, I T Thomas, F Greenberg

  • 1Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102.

American Journal of Medical Genetics
|September 15, 1993
PubMed
Summary
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Familial cases of Williams syndrome (WS) are rare, but this study documents three new families. In these instances, parents with WS were diagnosed after their children. This highlights potential overlooked familial transmission.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Williams syndrome (WS) is typically sporadic.
  • Familial cases of WS are infrequently reported and often lack documentation.
  • Previous reports suggest limited familial occurrence of WS.

Purpose of the Study:

  • To document familial cases of Williams syndrome.
  • To provide photographic evidence of familial WS.
  • To investigate the occurrence of WS in parent-child pairs.

Main Methods:

  • Case series of three families with Williams syndrome.
  • Clinical evaluation of affected children and their parents.
  • Review of medical history and diagnostic findings.

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Main Results:

  • Three families with parent-child transmission of WS are presented.
  • Affected individuals did not exhibit supravalvular aortic stenosis or chromosomal abnormalities.
  • Parental WS diagnosis occurred post-childhood diagnosis in all three families.

Conclusions:

  • Familial transmission of Williams syndrome can occur without typical associated conditions.
  • Delayed diagnosis of parental WS is possible after identification in offspring.
  • Further investigation into the genetics of familial WS is warranted.