Publication: Coffin-Siris Syndrome in Two Sisters in Nepal
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Ojha, Anil | |
| dc.contributor.author | Fong, Arti Sharma Pandey | |
| dc.contributor.author | Pandey, Arti Sharma Pandey | |
| dc.date.accessioned | 2026-05-22T06:21:46Z | |
| dc.date.available | 2026-05-22T06:21:46Z | |
| dc.date.issued | 2013 | |
| dc.description | Anil Ojha Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu Chin-To Fong University of Rochester School of Medicine and Dentistry, Rochester, NY Arti Sharma Pandey Kathmandu Medical College, Basic Sciences Block, Duwakot, Bhaktapur | |
| dc.description.abstract | Abstract: Coffin-Siris syndrome (CSS) has the characteristic feature of brachydactyly of the fifth digit of hands and feet accompanying cognitive and developmental delay. There is an overlap of symptoms with other conditions making the diagnosis of CSS difficult. An algorithm to look for a set of characters was followed for diagnosis of CSS in two sisters in Nepal. This is the first case of CSS reported from this country. | |
| dc.identifier | https://doi.org/10.3126/jnps.v33i2.8079 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/6195 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Coffin Syris | |
| dc.subject | ectoderm | |
| dc.subject | hypertrichosis | |
| dc.subject | mental retardation | |
| dc.title | Coffin-Siris Syndrome in Two Sisters in Nepal | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 135 | |
| oaire.citation.startPage | 132 | |
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| relation.isJournalIssueOfPublication.latestForDiscovery | 358a10cd-ca61-43c3-a1a7-fccff54666de | |
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