Journal article

Apert syndrome: Temporal lobe abnormalities on fetal brain imaging

Z Stark, G Mcgillivray, A Sampson, R Palma-Dias, A Edwards, JM Said, G Whiteley, AM Fink

Prenatal Diagnosis | Published : 2015

Abstract

Objectives: Apert syndrome is characterized by craniosynostosis and complex hand and foot syndactyly, and an increased risk of brain, palate, heart, and visceral malformations, and intellectual disability. This study aims to describe the structural brain abnormalities detected by dedicated neuroimaging of fetuses with Apert syndrome. Methods: Retrospective review of ultrasound and magnetic resonance imaging brain imaging obtained in six fetuses with a diagnosis of Apert syndrome. Results: Five fetuses had attenuation of the septal leaflets, and two had corpus callosum dysgenesis. All six had temporal lobe expansion and overconvolution and temporal lobe clefts. The temporal lobe abnormalities..

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