[Aicardi syndrome associated with severe congenital ptosis]. / Un syndrome d'Aicardi associé à un ptosis congénital sévère.
Arch Pediatr
; 18(9): 970-3, 2011 Sep.
Article
em Fr
| MEDLINE
| ID: mdl-21820292
ABSTRACT
Aicardi syndrome is a rare neurodevelopmental disorder characterized by corpus callosum agenesis, chorioretinal lacunae and early-onset infantile spasms. We report a particular case of Aicardi syndrome characterized by the association of the classical triad of severe bilateral ptosis, pontocerebellar hypoplasia, and perisylvian polymicrogyria in a girl born to non-consanguineous parents, but whose mother suffered from idiopathic generalized epilepsy.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Blefaroptose
/
Encéfalo
/
Síndrome de Aicardi
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
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Infant
Idioma:
Fr
Ano de publicação:
2011
Tipo de documento:
Article