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Синдром винного невусу-mega cisterna magna-гідроцефалії

ORPHA:2703· ICD-10 Q03.8· Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Визначення(English summary)

A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.

Поширеність
<1 / 1 000 000
Вік початку
Antenatal