15 фев 1961 г. - Aicardi syndrome
Описание:
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)
Добавлено на ленту времени:
Дата: