Williams syndrome: autosomal dominant inheritance.
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.
Morris
C A
CA
Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102.
Thomas
I T
IT
Greenberg
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001024:Aortic Valve Stenosis / Q000235:genetics; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome