title: Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.
abstract: We report on two brothers (in a sibship of three) with partial aniridia, cerebellar ataxia, and moderate mental retardation, with normal G-banded chromosomes. Both present cerebellum hypoplasia; the younger also has congenital pulmonic stenosis. A review of the literature is presented. Cause is unknown, although the possibility of an autosomal recessive gene cannot be ruled out.
authors.affiliation: Department of Clinical Medicine, Federal University of Paraná, Curitiba, PR, Brazil.
authors.forename: E O
authors.initials: EO
authors.lastname: Wittig
authors.forename: C A
authors.initials: CA
authors.lastname: Moreira
authors.forename: N
authors.initials: N
authors.lastname: Freire-Maia
authors.forename: A M
authors.initials: AM
authors.lastname: Vianna-Morgante
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D008297:Male; D013577:Syndrome