Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.
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.
Wittig
E O
EO
Department of Clinical Medicine, Federal University of Paraná, Curitiba, PR, Brazil.
Moreira
C A
CA
Freire-Maia
N
N
Vianna-Morgante
A M
AM
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