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Polymicrogyria in Di George syndrome: Brief Clinical Report

Creative Commons 'BY' version 4.0 license

We report a girl with DiGeorge syndrome with a VSD, cleft of the soft palate, and development delay, Brain imaging revealed diffuse polymicrogyria, diffuse cerebral atrophy, and ventriculomegaly. A wide range of central nervous system abnormalities have been reported in DGS and VCFS, including gyral abnormalities [lissencephaly, microgyria]. The patient reported herein strengthens the association between the 22q11 deletion spectrum and cortical dysgenesis, but the underlying pathogenetic mechanism [primary neural migration vs. vascular disruption] remains unclear.

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