Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation

What is it about?

This case of bilateral periventricular nodular heterotopia (BPNH) in a mother and her two consecutive female fetuses revealed a novel X-linked mutations of the filamin A gene. Heterotopia were diagnosed on fetal MRI at early gestational age. The MRI phenotype is variable and does not necessarily predict the clinical phenotype, a notion that has to be taken into account when estimating the neurological significance these fetal MRI findings.

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