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Journal of Pediatric Neurology 2023; 21(01): 073-077
DOI: 10.1055/s-0042-1760241
Review Article

Radiological Features of Joubert's Syndrome

Authors

  • Giovanni Stroscio

    1   Unit of Radiology, Department of Human Pathology in Adulthood and Childhood “G. Barresi,” University Hospital of Messina, Messina, Italy

  • Caterina Cuppari

    2   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Maria Domenica Ceravolo

    2   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Annamaria Salpietro

    3   ASST-Spedali Civili of Brescia, Pediatrics Clinic, Brescia, Italy

  • Francesco Battaglia

    4   Orthopaedic and Traumatology Department, “S. Anna” Hospital, University of Ferrara, Ferrara, Italy

  • Alessia Sallemi

    2   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Monica Fusco

    2   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Antonio Ceravolo

    5   Department of Pediatrics, Cinquefrondi, Reggio Calabria, Italy

  • Giulia Iapadre

    6   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

  • Elisa Calì

    7   Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom

  • Daniela Impollonia

    1   Unit of Radiology, Department of Human Pathology in Adulthood and Childhood “G. Barresi,” University Hospital of Messina, Messina, Italy

  • Francesca Granata

    1   Unit of Radiology, Department of Human Pathology in Adulthood and Childhood “G. Barresi,” University Hospital of Messina, Messina, Italy
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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.




Publikationsverlauf

Eingereicht: 22. August 2022

Angenommen: 27. Oktober 2022

Artikel online veröffentlicht:
05. Januar 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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