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. Author manuscript; available in PMC: 2010 Nov 1.
Published in final edited form as: Hum Mutat. 2009 Nov;30(11):1574–1582. doi: 10.1002/humu.21116

Figure 3. Brain MRI of a normal control (C), 6 month-old affected boy (JBS-006) and 13 year-old affected boy (JBS-008) carrying CC2D2A mutations.

Figure 3

A: Sagittal images show in both affected patients a superior vermian dysgenesis. The middle and inferior segments of the vermis are hypoplastic or absent.

B: Axial T2-weighted FSE images demonstrate the abnormally thickened and elongated superior cerebellar peduncles and the molar tooth sign in all affected patients (black arrow)

C: Axial T2-weighted FSE images show superior vermian dysgenesis (white arrow) at the level of the cerebral peduncles in all affected patients.