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.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Radiological Features of Joubert's Syndrome ; volume:21 ; number:01 ; year:2023 ; pages:073-077 ; Journal of pediatric neurology ; 21, Heft 01 (2023), 073-077

Beteiligte, Orts- und Zeitangaben

• Beteiligte Personen und Organisationen: Stroscio, Giovanni ; Cuppari, Caterina ; Ceravolo, Maria Domenica ; Salpietro, Annamaria ; Battaglia, Francesco ; Sallemi, Alessia ; Fusco, Monica ; Ceravolo, Antonio ; Iapadre, Giulia ; Calì, Elisa ; Impollonia, Daniela ; Granata, Francesca

Weitere Informationen

• DOI: 10.1055/s-0042-1760241
• URN: urn:nbn:de:101:1-2023030910371444555214
• Rechteinformation: Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 14.08.2025, 10:46 MESZ