Journal article

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features

Lubov Blumkin, Zvi Leibovitz, Karina Krajden-Haratz, Ayala Arad, Keren Yosovich, Liat Gindes, Ayelet Zerem, Liat Ben-Sira, Dorit Lev, Andrea Nissenkorn, Dvora Kidron, William B Dobyns, Gustavo Malinger, Nadia Bahi-Buisson, Richard J Leventer, Tally Lerman-Sagie

European Journal of Paediatric Neurology | ELSEVIER SCI LTD | Published : 2020

Abstract

OBJECTIVE: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome. METHODS: We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with other published TUBB3-related cases. We describe the pathological features of dysgyria in the two aborted fetuses. RESULTS: The mother and son from family 1 had a history of mild developmental delay in motor and language skills and demonstrated mild cerebellar signs and mirror movements. Neuroimaging findings included: hypoplastic corpus callosum (CC), asymmetric ventriculomegaly and cerebellar vermis hypoplasia in all ..

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