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Scholars Journal of Applied Medical Sciences | Volume-7 | Issue 09
A Missed Cause of Mental Retardation! Joubert Syndrome a Case Report
Dr. Rajagembeeran V, Dr. P. A. Mohammed Kunju
Published: Sept. 29, 2019 | 75 75
DOI: 10.36347/sjams.2019.v07i09.029
Pages: 3053-3057
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Abstract
Joubert syndrome (JS) is an uncommon autosomal recessive neurodevelopmental disorder involving cerebellar vermis and brain stem. We report a case of an 8-year-old male boy presented with global developmental delay, abnormal eye movements and ataxia. Magnetic resonance imaging (MRI) revealed characteristic Molar tooth sign (MTS) and bat wing appearance of fourth ventricle.