Fig. 3
Brain magnetic resonance images (MRIs) of individuals with pathogenic variants in ZNF292. (a, b) T1-weighted and T2-weighted brain MRIs of patient 17–003 showing mildly prominent ventricles (f). (c, d) T1-weighted sagittal and axial images of 17–008 showing paucity of the white matter due to an in utero vascular insult and a thin corpus callosum (arrowhead, c). (e–h) T1-weighted and constructive interference in steady state (CISS) images of patient 17–009 showing multiple abnormalities including hypoplasia of the cerebellar vermis and hemispheres, with marked asymmetry (arrow, g; asterisk, g), with possible clefting of the cerebellum (arrow, g), as well as a deep infold within the cortical surface (arrowhead, f). Patient also has evidence of possible hemosiderin deposition that is asymmetric, suggesting a previous vascular insult/injury.
