Gillespie syndrome: additional findings and parental consanguinity.
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.
Luquetti
Daniela Varela
DV
Departamento de Genética Médica, Faculdade de Ciências Médicas, UNICAMP, Campinas, Brazil.
Oliveira-Sobrinho
Ruy Pires
RP
Gil-da-Silva-Lopes
Vera Lúcia
VL
D000015:Abnormalities, Multiple; D015783:Aniridia / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D050278:Finger Phalanges / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011859:Radiography; D013577:Syndrome; D050277:Toe Phalanges / Q000000981:diagnostic imaging