Microhydranencephaly (MHAC) is a serious developmental brain anomaly characterized by microcephaly with severe reduction of brain hemispheres and intracranial space filled with cerebrospinal fluid without signs of intracranial hypertension. In the patients with MHAC, homozygous mutations in NDE1 gene have been identified.
In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence.
Behunova J, Zavadilikova E, Bozoglu TM, Gunduz A, Tolun A, Yalcinkaya C
タイトル
Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.
