Joubert Syndrome: Imaging Findings and Report of a Case | ||
Al-Kindy College Medical Journal | ||
Article 1, Volume 12, Issue 2, December 2016, Pages 126-128 | ||
Authors | ||
Asmaa H. Alsharea; Qays A. Hassan and | ||
Abstract | ||
Background: Joubert syndrome (JS) is a very rare autosomal recessive disorder characterized by agenesis of cerebellar vermis, abnormal eye movements, respiratory irregularities, and delayed generalized motor development. Retinal dystrophy and cystic kidneys may also be associated with this clinical syndrome. The importance of recognizing JS is related to the outcome and its potential complications. This syndrome is difficult to diagnose clinically because of its variable phenotype. Its neuroimaging hallmarks include the characteristic molar tooth sign and bat wing-shaped fourth ventricle | ||
Keywords | ||
Joubert syndrome; magnetic resonance imaging; Molar tooth sign; Vermian agenesis; Case report | ||
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