Schizencephaly

Definition:

Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported.

References:

[1]. Karen Y Oh, et al. Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. Radiographics. 2005 May-Jun;25(3):647-57. [Content Brief]

[2]. S Brunelli, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 1996 Jan;12(1):94-6. [Content Brief]

[3]. Ute Hehr, et al. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet. 2010 Mar;127(5):555-61. [Content Brief]

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