Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.
We report on 8 (3 male, 5 female) native Canadian children with distinctive facial appearance and variable combinations of ocular colobomas, hypertelorism, macrocephaly, hand anomalies, congenital heart defects, structural CNS posterior fossa malformations, and mental retardation. These 8 children belong to 7 families; 3 of the families are related. The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher-Schinzel syndrome in native Canadian children, and we have confirmed that ocular colobomas are a common occurrence in this disorder.
Marles
S L
SL
Children's Hospital, Winnipeg, Manitoba, Canada.
Chodirker
B N
BN
Greenberg
C R
CR
Chudley
A E
AE
D000015:Abnormalities, Multiple / Q000235:genetics*; D002170:Canada; D005260:Female; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome