Williams syndrome: autosomal dominant inheritance

Am J Med Genet. 1993 Sep 15;47(4):478-81. doi: 10.1002/ajmg.1320470409.


Williams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3-year-old boy and his 34-year-old father, a 2-year-old girl and her 30-year-old mother, and a 3-year-old girl and her 31-year-old mother. None of these patients has supravalvular aortic stenosis or chromosome abnormalities. In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Aortic Valve Stenosis / genetics
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Genes, Dominant*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Syndrome