Figure 3. Brain MRI images of individuals with pathogenic variants in ZNF292.
(A-B) T1-weighted and T2-weighted brain MR images of patient 17–003 showing mildly prominent ventricles (asterisks, image 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; image G); (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, image I; asterisks, image G), with possible clefting OF the cerebellum (arrow, image G), as well as a deep infold within the cortical surface (arrowhead, image F). Patient also has evidence of possible hemosiderin deposition that is asymmetric, suggesting a previous vascular insult/injury.
