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Joubert syndrome

Case contributed by Gagandeep Choudhary
Diagnosis certain

Note: This case has been tagged as "legacy" as it no longer meets image preparation and/or other case publication guidelines.

mri

Level of midbrain showing superior cerebellar peduncles thickened elongated with midline cleft at the pontomesencephalic junction, giving molar tooth appearance. Bat wing appearance of fourth ventricle.

Case Discussion

This case illustrates the typical features of Joubert syndrome, with both the molar tooth appearance of the midbrain and bat wing configuration of the 4th ventricle. 

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