Joubert Syndrome: Imaging Findings and Report of a Case
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...
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| Format: | Article |
| Language: | English |
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University of Baghdad/ Al-Kindy College of Medicine
2016-06-01
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| Series: | مجله كليه طب الكندي |
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| Online Access: | https://jkmc.uobaghdad.edu.iq/index.php/MEDICAL/article/view/331 |
| Summary: | 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
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| ISSN: | 1810-9543 2521-4365 |