Aicardi’s syndrome: report of an autopsied case and review of the literature1

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The clinical and autopsy findings in a female infant with Aicardi’s syndrome are presented. A clinical entity consisting of seizures, mental retardation, and chorioretinal lacunae, Aicardi’s syndrome is found only in females and is associated with agenesis of the corpus callosum. Vertebral anomalies may also occur. Although the time of developmental arrest appears to be within the first trimester of pregnancy, the etiology of this disorder remains unknown.



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