Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation
of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the …

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 …

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 …

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 …