Fig. 2

Brain MRI of the three affected siblings. a T2-weighted coronal scan of the older male patient (Fig. 1b: II-1) demonstrates cerebellar hypoplasia/atrophy with the impression of a cleft in the lateral cerebellar hemisphere. Note that the brainstem volume is preserved; (b, c, d) T1-weighted sagittal scans with contrast of all three siblings (Fig. 1b: II-1, II-2 and II-3, respectively) show slight hypoplasia/atrophy of the cerebellar vermis. Also, there is downsloping splenium of the corpus callosum