Fig. 2: Neuroradiological features of individuals with BCL11A-IDD. | European Journal of Human Genetics

Fig. 2: Neuroradiological features of individuals with BCL11A-IDD.

From: BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Fig. 2

Sagittal (A), Coronal (B) and axial (C) 3D T1 weighted-images (WI) in P35 showing inferior vermian hypoplasia (long arrows in A and B) with associated enlargement of the tegmento-vermian, mild reduction in size of the posterior aspect of the corpus callosum (short arrow in A), hypoplasia of the left cerebellar hemisphere (dashed arrow in B) and mild dysplasia of the vermis (arrowhead in C). Sagittal T1 WI (D) and coronal T2 WI (E) in P25 and sagittal T1 WI in P8 (F) showing isolated vermian hypoplasia with associated enlargement of the tegmento-vermian. Vermian hypoplasia was confirmed with measurements compared to normal values described in Jandeaux et al. [26]. The pons is small in both patients. Sagittal T1 WI in P35 (G), P41 (H), and P17 (I) showing the short pons and abnormally elongated medulla. Normal control for comparison on the bottom right (J).

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