Publication: Joubert's Syndrome: A Case Report
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Amin, Abid | |
| dc.contributor.author | Farooq, Arshad | |
| dc.contributor.author | Lone, Ali M | |
| dc.contributor.author | Irfan, Hakim | |
| dc.contributor.author | Wani, Shayiq | |
| dc.contributor.author | Hamid, Raashid | |
| dc.date.accessioned | 2026-06-02T08:17:06Z | |
| dc.date.available | 2026-06-02T08:17:06Z | |
| dc.date.issued | 2011 | |
| dc.description | Abid Amin SKIMS Medical College Hospital Bemina Srinagar Kashmir Arshad Farooq Professor in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina Ali M Lone Resident in Surgery, Sher-i-kashmir Institute of Medical Sciences Soura Hakim Irfan Resident in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina Shayiq Wani Resident in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina Raashid Hamid Resident in Surgery, Sher-i-kashmir Institute of Medical Sciences Soura | |
| dc.description.abstract | Abstract: Joubert's syndrome is an autosomal recessive congenital disorder having characteristic clinical features like hypotonia, ataxia, developmental delay and many neurological problems. Other variable features include retinal dystrophy, cystic kidney disease liver fibrosis etc. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored. | |
| dc.identifier | https://doi.org/10.3126/jnps.v31i2.3908 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/6334 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Joubert's syndrome | |
| dc.subject | molar tooth sign | |
| dc.subject | cerebellar peduncles | |
| dc.subject | vermis hypoplasia | |
| dc.title | Joubert's Syndrome: A Case Report | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 142 | |
| oaire.citation.startPage | 141 | |
| relation.isJournalIssueOfPublication | e43eed01-15df-428a-b74c-608eef074322 | |
| relation.isJournalIssueOfPublication.latestForDiscovery | e43eed01-15df-428a-b74c-608eef074322 | |
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