Autosomal dominant inheritance of Klein-Waardenburg syndrome.
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.
Sheffer
R
R
Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Zlotogora
J
J
D000328:Adult; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014849:Waardenburg Syndrome / Q000235:genetics*