PMC3350021_01
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.
CRIM.PEDIATRICS2011-262641.001.jpg
PMC3350021_01_CRIM.PEDIATRICS2011-262641.001.jpg
fig1
This demonstrated a midline defect in the cerebellar vermis, thickened horizontally orientated cerebellar peduncles, and a small midbrain (Figure 1).
Cranial T2 magnetic resonance image for BZ:this shows an enlarged 4th ventricle with cerebellar vermis hypoplasia and horizontally orientated superior peduncles. There is also a posterior fossa arachnoid cyst.
CRIM.PEDIATRICS2011-262641.002.jpg
PMC3350021_01_CRIM.PEDIATRICS2011-262641.002.jpg
fig2
Consequently BZ also underwent MRI imaging which demonstrated an enlarged 4th ventricle with cerebellar vermis hypoplasia and horizontally orientated superior cerebellar peduncles (Figure 2).