The Williams syndrome: evidence for possible autosomal dominant inheritance

Am J Med Genet. 1993 Sep 15;47(4):468-70. doi: 10.1002/ajmg.1320470406.


We recently evaluated a mother and son with the Williams syndrome. Documentation of the clinical phenotype in two generations of this family suggests that some cases of the Williams syndrome are autosomal dominantly inherited. Recognition of the heritable nature of the Williams syndrome should prompt careful clinical evaluation of other at-risk relatives in order to provide accurate recurrence risk counseling.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Aortic Valve Stenosis / congenital*
  • Aortic Valve Stenosis / genetics
  • Face / abnormalities
  • Female
  • Genes, Dominant*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Phenotype
  • Syndrome