A Case of Seckel Syndrome with Tricuspid Atresia
| dc.contributor.author | Arslan, D. | |
| dc.contributor.author | Cimen, D. | |
| dc.contributor.author | Guvenc, O. | |
| dc.contributor.author | Sert, A. | |
| dc.contributor.author | Oktay, A. | |
| dc.contributor.author | Oran, B. | |
| dc.contributor.pubmedID | 25059015 | en_US |
| dc.date.accessioned | 2024-02-05T09:10:19Z | |
| dc.date.available | 2024-02-05T09:10:19Z | |
| dc.date.issued | 2014 | |
| dc.description.abstract | A case of Seckel syndrome with tricuspid atresia: Seckel syndrome is an autosomal recessive disease presenting with marked growth retardation, microcephalic dwarfism, some facial and skeletal abnormalities. Tricuspid atresia is a rare and life threatening cyanotic congenital heart diseases, with an incidence of 1% to 3%. It is feature of the anatomically normally related great arteries with a large ventricular septum defect and stenosis of right ventricular outflow tract. Tricuspid atresia has never been reported in patients with Seckel syndrome. Here we report a 15-day-old girl baby diagnosed as having Seckel syndrome with tricuspid atresia. | en_US |
| dc.identifier.endpage | 175 | en_US |
| dc.identifier.issn | 1015-8146 | en_US |
| dc.identifier.issue | 2 | en_US |
| dc.identifier.scopus | 2-s2.0-84904246890 | en_US |
| dc.identifier.startpage | 171 | en_US |
| dc.identifier.uri | http://hdl.handle.net/11727/11424 | |
| dc.identifier.volume | 25 | en_US |
| dc.identifier.wos | 00338752600006 | en_US |
| dc.language.iso | eng | en_US |
| dc.relation.journal | GENETIC COUNSELING | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Seckel syndrome | en_US |
| dc.subject | Tricuspid atresia | en_US |
| dc.subject | Child | en_US |
| dc.title | A Case of Seckel Syndrome with Tricuspid Atresia | en_US |
| dc.type | Article | en_US |
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