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Patient Data
Age: Child
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MRI of a child demonstrates absence of the cerebellar vermis with the cerebellar hemispheres apposed in the midline, without fusion. The mid brain has a characteristic molar tooth configuration.
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Joubert syndrome is home to two signs: the molar tooth sign of the midbrain and the bat wing configuration of the 4th ventricle.
molar tooth photo credit: Gleam (more information here)
fruit bat photo credit: Marion Schneider & Christoph Aistleitner (more information here)
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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