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Case Reports
. 1988 Jul;30(3):703-8.
doi: 10.1002/ajmg.1320300302.

Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers

E O Wittig  1 , C A Moreira, N Freire-Maia, A M Vianna-Morgante
Affiliations
Case Reports

Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers

E O Wittig et al. Am J Med Genet. 1988 Jul.

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.

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