Case Report

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.
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