15 feb 1961 anni - Aicardi syndrome

Descrizione:

Jean Francois Aicardi, French paediatrician born in 1926
infantile spasms: salaam seizures with typical bowing of the head
corpus callosal dysgenesis: most consistent feature
distinctive chorioretinal lacunae: pathognomonic
X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47-XXY cases)

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