Figure 2.

Brain MRI of Individuals with CNPY3 Variants

Individual 1 at 7 years (A and B), individual 2 at 4 years (C and D), and individual 3 at 4 months (E and F). Axial T2-weighted images (A, C, and E) show mildly enlarged lateral ventricles in all individuals. Individuals 1 and 2 show a deformed cranium with left occipital flatness, caused by a bedridden posture and facing toward the left. Individual 3 shows cavum septi pellucidi and cavum vergae, which are usually considered normal variants. Coronal T2-weighted images (B, D, and F) show malrotation of the left, right, and bilateral hippocampus in individuals 1, 2, and 3, respectively (white arrows).