Joubert syndrome : imaging findings and report of a case
Joint Authors
Hasan, Qays A.
al-Sharia, Asma H.
Source
al-Kindy College Medical Journal
Issue
Vol. 12, Issue 2 (31 Dec. 2016), pp.126-128, 3 p.
Publisher
University of Baghdad al-Kindi College of Medicine
Publication Date
2016-12-31
Country of Publication
Iraq
No. of Pages
3
Main Subjects
Topics
Abstract EN
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
American Psychological Association (APA)
Hasan, Qays A.& al-Sharia, Asma H.. 2016. Joubert syndrome : imaging findings and report of a case. al-Kindy College Medical Journal،Vol. 12, no. 2, pp.126-128.
https://search.emarefa.net/detail/BIM-746036
Modern Language Association (MLA)
Hasan, Qays A.& al-Sharia, Asma H.. Joubert syndrome : imaging findings and report of a case. al-Kindy College Medical Journal Vol. 12, no. 2 (2016), pp.126-128.
https://search.emarefa.net/detail/BIM-746036
American Medical Association (AMA)
Hasan, Qays A.& al-Sharia, Asma H.. Joubert syndrome : imaging findings and report of a case. al-Kindy College Medical Journal. 2016. Vol. 12, no. 2, pp.126-128.
https://search.emarefa.net/detail/BIM-746036
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 128
Record ID
BIM-746036