Joubert Syndrome - A Case Report
Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Krishna Institute of Medical Sciences University
2013-07-01
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| Series: | Journal of Krishna Institute of Medical Sciences University |
| Subjects: | |
| Online Access: | http://www.jkimsu.com/jkimsu-vol2no2/jkimsu%20vol%202%20no%202%20july%20-%20dec%202013%20138-140.pdf |
| _version_ | 1811264151405723648 |
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| author | Bandichhode S. T. Anitha M. S. Anand Pandav |
| author_facet | Bandichhode S. T. Anitha M. S. Anand Pandav |
| author_sort | Bandichhode S. T. |
| collection | DOAJ |
| description | Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation. |
| first_indexed | 2024-04-12T19:57:41Z |
| format | Article |
| id | doaj.art-676419a24bae4eea82489992fc82edca |
| institution | Directory Open Access Journal |
| issn | 2231-4261 |
| language | English |
| last_indexed | 2024-04-12T19:57:41Z |
| publishDate | 2013-07-01 |
| publisher | Krishna Institute of Medical Sciences University |
| record_format | Article |
| series | Journal of Krishna Institute of Medical Sciences University |
| spelling | doaj.art-676419a24bae4eea82489992fc82edca2022-12-22T03:18:37ZengKrishna Institute of Medical Sciences UniversityJournal of Krishna Institute of Medical Sciences University2231-42612013-07-010202138140Joubert Syndrome - A Case ReportBandichhode S. T.Anitha M. S.Anand PandavJoubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.http://www.jkimsu.com/jkimsu-vol2no2/jkimsu%20vol%202%20no%202%20july%20-%20dec%202013%20138-140.pdfJoubert SyndromeJSRDAgen- esis of Cerebellar VermisMolar Tooth Sign |
| spellingShingle | Bandichhode S. T. Anitha M. S. Anand Pandav Joubert Syndrome - A Case Report Journal of Krishna Institute of Medical Sciences University Joubert Syndrome JSRD Agen- esis of Cerebellar Vermis Molar Tooth Sign |
| title | Joubert Syndrome - A Case Report |
| title_full | Joubert Syndrome - A Case Report |
| title_fullStr | Joubert Syndrome - A Case Report |
| title_full_unstemmed | Joubert Syndrome - A Case Report |
| title_short | Joubert Syndrome - A Case Report |
| title_sort | joubert syndrome a case report |
| topic | Joubert Syndrome JSRD Agen- esis of Cerebellar Vermis Molar Tooth Sign |
| url | http://www.jkimsu.com/jkimsu-vol2no2/jkimsu%20vol%202%20no%202%20july%20-%20dec%202013%20138-140.pdf |
| work_keys_str_mv | AT bandichhodest joubertsyndromeacasereport AT anithams joubertsyndromeacasereport AT anandpandav joubertsyndromeacasereport |