Joubert Syndrome: A Case Report
Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the...
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2018-05-01
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| Series: | Nepal Journal of Neuroscience |
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| Online Access: | https://www.nepjol.info/index.php/NJN/article/view/20023 |
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doaj-f2525f7ba6d54749a2d3b59203bd18dd2020-11-25T00:06:33ZengNESONNepal Journal of Neuroscience1813-19481813-19562018-05-011513336https://doi.org/10.3126/njn.v15i1.20023Joubert Syndrome: A Case ReportPrakash Kafle 0Sushil Krishna Shilpakar1Mohan Raj Sharma2Gopal Sedain3Amit K Pradhanang4Binod Raj Bhandari5Neurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, KathmanduNeurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, KathmanduNeurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, KathmanduNeurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, KathmanduNeurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, KathmanduNeurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, KathmanduJoubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourth ventricle.https://www.nepjol.info/index.php/NJN/article/view/20023joubertsyndromehypotoniavermianagenesismolar tooth signbat wing appearance |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Prakash Kafle Sushil Krishna Shilpakar Mohan Raj Sharma Gopal Sedain Amit K Pradhanang Binod Raj Bhandari |
| spellingShingle |
Prakash Kafle Sushil Krishna Shilpakar Mohan Raj Sharma Gopal Sedain Amit K Pradhanang Binod Raj Bhandari Joubert Syndrome: A Case Report Nepal Journal of Neuroscience joubertsyndrome hypotonia vermianagenesis molar tooth sign bat wing appearance |
| author_facet |
Prakash Kafle Sushil Krishna Shilpakar Mohan Raj Sharma Gopal Sedain Amit K Pradhanang Binod Raj Bhandari |
| author_sort |
Prakash Kafle |
| title |
Joubert Syndrome: A Case Report |
| title_short |
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_sort |
joubert syndrome: a case report |
| publisher |
NESON |
| series |
Nepal Journal of Neuroscience |
| issn |
1813-1948 1813-1956 |
| publishDate |
2018-05-01 |
| description |
Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourth ventricle. |
| topic |
joubertsyndrome hypotonia vermianagenesis molar tooth sign bat wing appearance |
| url |
https://www.nepjol.info/index.php/NJN/article/view/20023 |
| work_keys_str_mv |
AT prakashkafle joubertsyndromeacasereport AT sushilkrishnashilpakar joubertsyndromeacasereport AT mohanrajsharma joubertsyndromeacasereport AT gopalsedain joubertsyndromeacasereport AT amitkpradhanang joubertsyndromeacasereport AT binodrajbhandari joubertsyndromeacasereport |
| _version_ |
1725421510222413824 |