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 |
| Subjects: | |
| Online Access: | https://jkmc.uobaghdad.edu.iq/index.php/MEDICAL/article/view/331 |
| _version_ | 1798002145844264960 |
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| author | Qays A. Hassan Asmaa H. Alsharea |
| author_facet | Qays A. Hassan Asmaa H. Alsharea |
| author_sort | Qays A. Hassan |
| collection | DOAJ |
| description |
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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| first_indexed | 2024-04-11T11:47:31Z |
| format | Article |
| id | doaj.art-49b6341343d441d998b2ba4e4b6662ac |
| institution | Directory Open Access Journal |
| issn | 1810-9543 2521-4365 |
| language | English |
| last_indexed | 2024-04-11T11:47:31Z |
| publishDate | 2016-06-01 |
| publisher | University of Baghdad/ Al-Kindy College of Medicine |
| record_format | Article |
| series | مجله كليه طب الكندي |
| spelling | doaj.art-49b6341343d441d998b2ba4e4b6662ac2022-12-22T04:25:28ZengUniversity of Baghdad/ Al-Kindy College of Medicineمجله كليه طب الكندي1810-95432521-43652016-06-01122Joubert Syndrome: Imaging Findings and Report of a CaseQays A. Hassan0Asmaa H. Alsharea1Department of Surgery, Al-kindy College of Medicine, University of Baghdad.Department of Surgery, Al-kindy College of Medicine, University of Baghdad. 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 https://jkmc.uobaghdad.edu.iq/index.php/MEDICAL/article/view/331Joubert syndromeMagnetic resonance imaging,Molar tooth signVermian agenesisCase report |
| spellingShingle | Qays A. Hassan Asmaa H. Alsharea Joubert Syndrome: Imaging Findings and Report of a Case مجله كليه طب الكندي Joubert syndrome Magnetic resonance imaging, Molar tooth sign Vermian agenesis Case report |
| title | Joubert Syndrome: Imaging Findings and Report of a Case |
| title_full | Joubert Syndrome: Imaging Findings and Report of a Case |
| title_fullStr | Joubert Syndrome: Imaging Findings and Report of a Case |
| title_full_unstemmed | Joubert Syndrome: Imaging Findings and Report of a Case |
| title_short | Joubert Syndrome: Imaging Findings and Report of a Case |
| title_sort | joubert syndrome imaging findings and report of a case |
| topic | Joubert syndrome Magnetic resonance imaging, Molar tooth sign Vermian agenesis Case report |
| url | https://jkmc.uobaghdad.edu.iq/index.php/MEDICAL/article/view/331 |
| work_keys_str_mv | AT qaysahassan joubertsyndromeimagingfindingsandreportofacase AT asmaahalsharea joubertsyndromeimagingfindingsandreportofacase |