H. Alsharea, A., A. Hassan and, Q. (2016). Joubert Syndrome: Imaging Findings and Report of a Case. , 12(2), 126-128.
Asmaa H. Alsharea; Qays A. Hassan and. "Joubert Syndrome: Imaging Findings and Report of a Case". , 12, 2, 2016, 126-128.
H. Alsharea, A., A. Hassan and, Q. (2016). 'Joubert Syndrome: Imaging Findings and Report of a Case', , 12(2), pp. 126-128.
H. Alsharea, A., A. Hassan and, Q. Joubert Syndrome: Imaging Findings and Report of a Case. , 2016; 12(2): 126-128.

Joubert Syndrome: Imaging Findings and Report of a Case

Al-Kindy College Medical Journal
Article 1, Volume 12, Issue 2, 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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