Article: Rubinstein Taybi Syndrome
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Das, N | |
| dc.contributor.author | Ghosh, N | |
| dc.contributor.author | Biswas, K | |
| dc.contributor.author | Nayek, K | |
| dc.date.accessioned | 2026-05-20T10:24:00Z | |
| dc.date.available | 2026-05-20T10:24:00Z | |
| dc.date.issued | 2013 | |
| dc.description | N Das R.G Kar Medical College, Kolkata, West Bengal N Ghosh R.G Kar Medical College, Kolkata, West Bengal S Biswas R.G Kar Medical College, Kolkata, West Bengal K Nayek R.G Kar Medical College, Kolkata, West Bengal | |
| dc.description.abstract | Abstract: Rubinstein Taybi is a rare genetic syndrome with characteristic facial features, broad thumb and toes, mental retardation. Diagnosis is mainly clinical. Here we report a 2 and ½ year old female child with typical facial features and other anomalies characteristics of Rubistein Taybi syndrome. Among the different features described-polydactyly, syndactyly, micrognathia are occasional abnormalities to be found in this syndrome. Bilateral pits on posterior aspect of helix is also a feature described in very few literatures. | |
| dc.identifier | https://doi.org/10.3126/jnps.v33i1.7091 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/6156 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Rubinstein Taybi Syndrome | |
| dc.subject | genetic syndrome | |
| dc.subject | microcephaly | |
| dc.subject | mental retardation | |
| dc.title | Rubinstein Taybi Syndrome | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 69 | |
| oaire.citation.startPage | 68 | |
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| relation.isJournalIssueOfPublication.latestForDiscovery | a470c33f-91a2-4654-b172-79956f386e44 | |
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