Figure 2

Selected axial, coronal and sagittal MR images from eight male individuals with a CASK alteration. The coronal images (second row) show hypoplastic, flattened cerebellar hemispheres with proportionally reduced size of the vermis in patients 1–7. The sagittal images in the third row show intact corpus callosum in all cases, low forehead indicative for microcephaly and pontine hypoplasia in patients 1–7. Pontocerebellar hypoplasia is severe in patients 1–5, moderate in patient 6, and mild in patient 7. Cerebellum and pons of patient 8 are normal. A mildly reduced number and complexity of the frontal gyri are seen in patients 1 and 7, and cortical atrophy in patients 1 and 4 (axial images in first row). MR imaging was performed at the age of 6 months (patient 1), 5 months (patient 2), 5 years (patient 3), 2 months (patient 4), 4 months (patient 5), 11 months (patient 6), 10 months (patient 7), and 16 months (patient 8).