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. 2018 Nov 21;103(6):1009–1021. doi: 10.1016/j.ajhg.2018.10.019

Figure 1.

Figure 1

Brain MRI in Subjects with MACF1 Zinc-Binding-Pocket Mutations

Images from mid-sagittal (far-left column) and three axial planes are shown from subjects LR14-088 (A–D), LR17-434 (E–H), LR16-306 (I–L), and LR17-450 (M–P). MACF1 mutations are shown in the far-left column for each subject. The mid-sagittal images all show striking brainstem hypoplasia and dysplasia with a mildly narrow midbrain, a dramatically narrow pons with tiny (white arrows in A and E) or no (white arrows in I and M) bumps on the ventral surface, and a mildly thick medulla. The midline images also show a mildly thin and variably short corpus callosum and mild cerebellar vermis hypoplasia with mega-cisterna magna (A) or borderline vermis hypoplasia (E, I, and M). The medulla is very wide and flat—almost double the typical width—and has small pyramids visible on the ventral surface (arrows in B, F, J, and N). The pons is also very wide and flat with a deep ventral cleft in the midline (arrowheads in C, G, K, and O). Images of the cortex show diffuse mild (D and H) or severe (L and P) pachygyria with a posterior gradient more severe than the anterior gradient.