Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians

Am J Med Genet. 1995 May 8;56(4):343-50. doi: 10.1002/ajmg.1320560402.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

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