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. Author manuscript; available in PMC: 2017 Aug 1.
Published in final edited form as: J Hum Genet. 2015 Mar 26;60(7):363–369. doi: 10.1038/jhg.2015.31

Figure 2.

Figure 2

Pt10’s MRI obtained at 9 months. Coronal T2-weighted image through the cerebellar hemispheres (a), sagittal T1-weighted image through midline (b) and sagittal T1-weighted image off midline (c) images demonstrate severe atrophy of vermis (superior aspect more affected than inferior aspect) and moderate-to-severe atrophy of the cerebellar hemispheres. There is moderate atrophy of the dorsal pons. Fetal MRI at 22 weeks fetal age of Pt11 (Pt10’s sibling): coronal T2-weighted image (d) and sagittal T2-weighted image (transverse measurement 22 mm) (e) images demonstrate normal appearing cerebellum (height is 10 mm) with normals measuring 22+2 and 10 +1,27 respectively. MRI obtained in Pt 11 at 7 months: coronal T2-weighted image through the cerebellar hemispheres (f), sagittal T1-weighted images through midline (g) and sagittal T2-weighted image off midline (h) images demonstrate severe atrophy of the cerebellar vermis (superior aspect more affected than inferior aspect); moderate atrophy of the cerebellar hemispheres; and mild atrophy of the dorsal pons.