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

CONCLUSIONS: TUBB3 related cortical malformations can be mild, consistent with dysgyria rather than typical pachygyria or polymicrogyria. The autopsy findings in fetal TUBB3 related dysgyria are abnormal orientation of sulci and gyri, but normal neuron morphology and layering. We suggest that TUBB3 - associated brain malformations can be suspected in-utero which in turn can aid in prognostic counselling and interpretation of genetic testing.
PMID: 32169460 [PubMed - as supplied by publisher]

Source: European Journal of Paediatric Neurology - March 3, 2020 Category: Neurology Authors: Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T Tags: Eur J Paediatr Neurol Source Type: research