Publication: Meckel-Gruber syndrome
| creativeworkseries.issn | 1812-2027 | |
| dc.contributor.author | U, Ramachandran | |
| dc.contributor.author | T, Malla | |
| dc.contributor.author | KS, Joshi | |
| dc.date.accessioned | 2025-07-23T07:15:23Z | |
| dc.date.available | 2025-07-23T07:15:23Z | |
| dc.date.issued | 2006 | |
| dc.description | Ramachandran U 1, Malla T2 , Joshi KS 3 1Department of Paediatrics, Manipal Teaching Hospital, Pokhara, Nepal | |
| dc.description.abstract | Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects. Key words: - MKS syndrome, meningoencephalocoele | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/563 | |
| dc.language.iso | en_US | |
| dc.publisher | Kathmandu University | |
| dc.title | Meckel-Gruber syndrome | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 336 | |
| oaire.citation.startPage | 334 | |
| relation.isJournalIssueOfPublication | 63510cea-3395-4059-86a7-2b9d0d843bf1 | |
| relation.isJournalIssueOfPublication.latestForDiscovery | 63510cea-3395-4059-86a7-2b9d0d843bf1 | |
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