Radiological Features of Joubert's Syndrome

Abstract

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

Keywords

Joubert syndrome - radiological findings - “molar tooth sign”

Authors' Contribution

C.C. did the conceptualization. CC and MDC did the investigation. G.S. and E.C. contributed toward the resources. A.S., G.I., D.I., and E.G. did the data curation. E.D. and F.G. wrote and prepared the original draft. A.S. and A.C. wrote the review and edited it. M.F. and F.B. did the supervision. All authors have read and agreed to the published version of the manuscript.

Data Availability Statement

The data presented in this study are available on request from the corresponding author.

Publication History

Received: 22 August 2022

Accepted: 27 October 2022

Article published online:
05 January 2023

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