Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
Figure 1
Cranial T2 magnetic resonance image for AZ—this shows a midline defect in the cerebellar vermis, thickened horizontally orientated cerebellar peduncles, a small midbrain, and dysplasia of the cerebellar cortex. This demonstrates the characteristic “molar tooth sign” seen in Joubert Syndrome and JSRD.