Autosomal dominant inheritance of Klein-Waardenburg syndrome

Am J Med Genet. 1992 Feb 1;42(3):320-2. doi: 10.1002/ajmg.1320420312.


We report on 2 sibs with the Klein-Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The children's father and paternal aunt are also affected. This report confirms that the Klein-Waardenburg syndrome is an autosomal dominant syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Waardenburg Syndrome / genetics*