Ophthalmological Findings in Joubert Syndrome and Related Disorders
I Ceravolo, F Granata, E Gitto, G Iapadre… - Journal of Pediatric …, 2023 - thieme-connect.com
Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation
of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the …
of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the …
Radiological Features of Joubert's Syndrome
G Stroscio, C Cuppari, MD Ceravolo… - Journal of Pediatric …, 2023 - thieme-connect.com
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 …
syndrome presented a characteristic picture of cranial fossa malformations, called “molar …
Epilepsy in Joubert Syndrome: A Still Few Explored Matter
A Prato, A Scuderi, G Amore, G Spoto… - Journal of Pediatric …, 2023 - thieme-connect.com
Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being
reported only in 3% of cases. Few patients have been described, moreover, with poor …
reported only in 3% of cases. Few patients have been described, moreover, with poor …
Joubert Syndrome: Diagnostic Evaluation and Follow-up
C Cuppari, I Ceravolo, A Mancuso… - Journal of Pediatric …, 2023 - thieme-connect.com
The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of
the multiplicity of problems and calls for close collaboration between different specialists …
the multiplicity of problems and calls for close collaboration between different specialists …