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ORPHA:1665· ICD-10 Q02· Sporadic fetal brain disruption sequence

Визначення(English summary)

Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.

Поширеність
<1 / 1 000 000
Успадкування
Not applicable
Вік початку
Antenatal