Radiological Features of Joubert's Syndrome
| Autor: | Giovanni Stroscio, Caterina Cuppari, Maria Domenica Ceravolo, Annamaria Salpietro, Francesco Battaglia, Alessia Sallemi, Monica Fusco, Antonio Ceravolo, Giulia Iapadre, Elisa Calì, Daniela Impollonia, Francesca Granata |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Journal of Pediatric Neurology. 21:073-077 |
| ISSN: | 1875-9041 1304-2580 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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