Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197326
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
Aniridia
Cerebellar Ataxia
Child
Consanguinity
Female
Finger Phalanges
Humans
Intellectual Disability
Male
Syndrome
Toe Phalanges
Rights: fechado
Identifier DOI: 10.1080/13816810701209495
Address: http://www.ncbi.nlm.nih.gov/pubmed/17558851
Date Issue: 2007
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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