Radiological Features of Joubert's Syndrome

Abstract Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this presented characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign defined the presence in axial section at level deck/midbrain, hypo/dysplasia cerebellar vermis, abnormally deep interpeduncular and horizontalized thickened elongated superior peduncles. Although sign” peculiar JS, other radiological findings have been also reported these patients. Here, authors briefly assumed principal magnetic resonance imaging JS.