title: Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.
abstract: 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.
authors.affiliation: Children's Hospital, Winnipeg, Manitoba, Canada.
authors.forename: S L
authors.initials: SL
authors.lastname: Marles
authors.forename: B N
authors.initials: BN
authors.lastname: Chodirker
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: A E
authors.initials: AE
authors.lastname: Chudley
mesh_terms: 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