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Type: Artigo de periódico
Title: Gillespie Syndrome: Additional Findings And Parental Consanguinity.
Author: Luquetti, Daniela Varela
Oliveira-Sobrinho, Ruy Pires
Gil-da-Silva-Lopes, Vera Lúcia
Abstract: Aniridia is a rare condition whose presence should alert clinicians to the possibility of other abnormalities. One of the differential diagnoses that should be considered is Gillespie syndrome, in which aniridia is associated with cerebellar ataxia and mental retardation. There are only 21 reported cases of Gillespie syndrome. The goal of this paper is to describe the clinical manifestations of a girl born to a consanguineous couple who presented with typical findings of the Gillespie syndrome, in addition to previously undescribed alterations of her distal extremities.
Subject: Abnormalities, Multiple
Cerebellar Ataxia
Finger Phalanges
Intellectual Disability
Toe Phalanges
Citation: Ophthalmic Genetics. v. 28, n. 2, p. 89-93, 2007-Jun.
Rights: fechado
Identifier DOI: 10.1080/13816810701209495
Date Issue: 2007
Appears in Collections:Unicamp - Artigos e Outros Documentos

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