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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

Representative images of TUBA1A-related tubulinopathies

A-C. Infant age four months with classic lissencephaly. Other features include dysmorphic corpus callosum, dysmorphic/dysplastic internal capsules, and hypoplasia of the cerebellar vermis.

D-F. Fetus at 32 weeks' gestation with complete agyria, virtually no sulci, and complete corpus callosum agenesis

G-I. Child age six years with central pachygyria that appears mildly asymmetric and most severe over the central regions rather than over the posterior pole (H). The basal ganglia are malformed, appearing as large round structures in which the caudate, putamen, and globus pallidus cannot be distinguished (H). Associated malformations include partial agenesis of the rostrum and the splenium (G), hypoplastic brain stem, and dysplasia of the cerebellar vermis (I).

J-L. Child age six years. Dysgyria appears typical with an irregular or overfolded cortical surface and irregularity at the grey-white matter interface (K). Dysgyria appears mildly asymmetric and most severe over the central (mid- and posterior frontal, perisylvian, and anterior parietal) regions rather than over the frontal and the posterior pole. The frontal horns of both lateral ventricles are dysmorphic with malformed basal ganglia (mostly in K). The corpus callosum is hypoplastic (J).The superior vermis is dysplastic (arrow in L).

From: Tubulinopathies Overview

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