A Turkish Adulthood Joubert Syndrome and Review of the Literature
نویسندگان
چکیده
Joubert Syndrome (JS) in adult population is extremely rare. Here, we describe the first adult case seen in the Republic of Turkey. Our patient, a 19-year-old male, was diagnosed primarily by magnetic resonance imaging (MRI) finding of the typical “molar tooth sign”, in addition to JS clinical features such as mental retardation, hypotonia, dysarthria, nystagmus and ataxia. Detailed images of high resolution MRI, a review of the literature and a brief discussion are reported.
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