What two signs are evident? (hint: midbrain and 4th ventricle)
Molar tooth appearing midbrain (thus the alternative name of molar tooth midbrain-hindbrain malformation) & bat wing configuration of the 4th ventricle.
What genitourinary condition is Joubert syndrome associated with?
Multicystic dysplastic kidneys (MCDK), seen in ~30% of cases.
If you needed to perform a painful procedure on an individual with Joubert syndrome what should you be wary of?
Extreme care needs to be taken when administering any agent that causes respiratory depression, as individuals with Joubert syndrome are exquisitely sensitive to these effects.
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.