Article
Facial and physical features of Aicardi syndrome: infants to teenagers.
American journal of medical genetics. Part A - 15 Oct 2005
Sutton V Reid, Hopkins Bobbi J, Eble Tanya N, Gambhir Nikki, Lewis Richard A, Van den Veyver Ignatia B
Abstract excerpt
Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caused by heterozygous mutations in an X-linked gene. Its main features include of a triad of infantile spasms, agenesis of the corpus callosum, and distinctive chorioretinal lacunae. Additional common findings include moderate to profound mental retardation, gray matter heterotopia, gyral anomalies, and vertebral and...
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