Publication: Thanatophoric Dysplasia
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Badal, Sachendra | |
| dc.contributor.author | Roy, Shuvendu | |
| dc.contributor.author | Singh, Daljit | |
| dc.date.accessioned | 2026-03-17T11:06:38Z | |
| dc.date.available | 2026-03-17T11:06:38Z | |
| dc.date.issued | 2015 | |
| dc.description | Sachendra Badal Graded Specialist (Paediatrics) IMTRAT Military Hospital Shuvendu Roy Senior Advisor (Paediatrics) & Pediatric Neurologist, Army Hospital (R & R), New Delhi 110010 Daljit Singh Air Officer Commanding, 7 Air Force Hospital (Kanpur, UP) and Neonatologist | |
| dc.description.abstract | Abstract: Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period. There are two defined TD subtypes which have been classified clinically. The incidence is approximately 1/20,000 to 1/50,000. Type I TD being more frequent than Type II. Most individuals with TD die within the first few hours.This condition has characteristic sonographic features detected antenatally by midgestation, although distinction from other short-limbed dysplasia syndromes may be difficult. We report a case of type I TD with typical clinicoradiological features who succumbed within one hour of life. | |
| dc.identifier | https://doi.org/10.3126/jnps.v35i3.11946 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/5209 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Thanatophoric dysplasia | |
| dc.subject | kleeblattschaedel | |
| dc.subject | cloverleaf skull | |
| dc.subject | lethal skeletal dysplasia | |
| dc.title | Thanatophoric Dysplasia | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 306 | |
| oaire.citation.startPage | 304 | |
| relation.isJournalIssueOfPublication | ddb30430-3a07-48b1-8970-c896f031201d | |
| relation.isJournalIssueOfPublication.latestForDiscovery | ddb30430-3a07-48b1-8970-c896f031201d | |
| relation.isJournalOfPublication | 6f9be05c-05a9-4a3e-a5b5-a19a15ab042c |