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Ізольована аненцефалія/екзенцефалія

ORPHA:1048· ICD-10 Q04.8· Isolated anencephaly/exencephaly

Визначення(English summary)

A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Поширеність
1-9 / 100 000
Успадкування
Multigenic/multifactorial, Not applicable
Вік початку
Infancy, Neonatal