Williams syndrome in one dizygotic twin.
Williams syndrome is a disorder of unknown etiology with a characteristic facial appearance, vascular disease and infantile hypercalcemia. Most cases are sporadic. We report the case of a dizygotic male twin with the Williams syndrome. This appears to be the first report of twins with only one affected. This suggests a mutational event as the cause of Williams syndrome.
Hokama
T
T
Department of Genetics, Royal Children's Hospital, Melbourne, Australia.
Rogers
J G
JG
D001024:Aortic Valve Stenosis / Q000235:genetics*; D002648:Child; D004200:Diseases in Twins / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006579:Heterozygote; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014429:Twins, Dizygotic / Q000235:genetics*