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: S L Marles, B N Chodirker, C R Greenberg, A E Chudley
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 56 Issue 4 Pg. 343-50 (May 08 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7604842 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (genetics)
• Canada
• Female
• Humans
• Indians, North American (genetics)
• Infant, Newborn
• Male
• Pedigree
• Syndrome