Microhydranencephaly

Definition:

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.

References:

[1]. Ayse Guven, et al. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 2012 Aug;13(3):189-94. [Content Brief]

[2]. Jana Behunova, et al. Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence. Clin Dysmorphol. 2010 Jul;19(3):107-118. [Content Brief]

[3]. L J Russell, et al. In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. Am J Med Genet. 1984 Feb;17(2):509-21. [Content Brief]

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