Abstract
Joubert syndrome is a rare autosomal recessive disorder of cerebellum that occurs in 1 of 100.000 live births. The syndrome is characterized by a distinctive cerebellar and brainstem malformation, hypotonic, developmental delays, either hyperpnea or apnea or atypical eye movements or both. Cognitive abilities are variable, ranging from severe to mild mental retardation. A magnetic resonance imaging (MRI) is the most common neuroimaging technique used to establish the diagnosis of Joubert syndrome.
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