[Gillespie syndrome: 2 familial cases]. / Le syndrome de Gillespie: à propos de 2 cas familiaux.
Arch Pediatr
; 13(10): 1323-5, 2006 Oct.
Article
em Fr
| MEDLINE
| ID: mdl-16919425
ABSTRACT
We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Anormalidades do Olho
/
Deficiência Intelectual
Limite:
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2006
Tipo de documento:
Article