Ellis-Van Creveld Syndrome
| dc.authorscopusid | 6603814316 | |
| dc.authorscopusid | 6506372343 | |
| dc.authorscopusid | 7004442897 | |
| dc.authorscopusid | 8579314800 | |
| dc.authorscopusid | 57193873980 | |
| dc.contributor.author | Cesur, Y. | |
| dc.contributor.author | Yuca, S.A. | |
| dc.contributor.author | Üner, A. | |
| dc.contributor.author | Yuca, K. | |
| dc.contributor.author | Arslan, D. | |
| dc.date.accessioned | 2025-05-10T17:06:46Z | |
| dc.date.available | 2025-05-10T17:06:46Z | |
| dc.date.issued | 2008 | |
| dc.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| dc.department-temp | Cesur Y., Yüzüncü Yil University, Fakulty of Medicine, Department of Pediatric Endocrinelogy, Van, Turkey; Yuca S.A., Yüzüncü Yil University, Fakulty of Medicine, Department of Pediatric Endocrinelogy, Van, Turkey, Yuzuncu Yil University, Faculty of Medicine, Department of Pediatrics, Van, Turkey; Üner A., Yüzüncü Yil University, Fakulty of Medicine, Department of Pediatric Kardiyology, Van, Turkey; Yuca K., Yüzüncü Yil University, Fakulty of Medicine, Department of Otolaryngology, Van, Turkey; Arslan D., Yuzuncu Yil University, Faculty of Medicine, Department of Pediatrics, Van, Turkey | en_US |
| dc.description.abstract | Ellis-van Creveld syndrome (EVCS) or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. The patient presented with short stature, polydactyly, triangular face and dental dismorphism was found appropriately as radiographic with ectodermal dysplasia. In addition to the presence of single atrium, mitral, tricuspid and pulmonary valve insufficiency and pulmonary hypertension wererevealed by echocardiography. Her history involved a sister who was dead in 3-month-ages. | en_US |
| dc.identifier.doi | 10.29333/ejgm/82604 | |
| dc.identifier.endpage | 190 | en_US |
| dc.identifier.issn | 1304-3889 | |
| dc.identifier.issue | 3 | en_US |
| dc.identifier.scopus | 2-s2.0-58149161696 | |
| dc.identifier.scopusquality | N/A | |
| dc.identifier.startpage | 187 | en_US |
| dc.identifier.uri | https://doi.org/10.29333/ejgm/82604 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/6517 | |
| dc.identifier.volume | 5 | en_US |
| dc.identifier.wosquality | N/A | |
| dc.language.iso | en | en_US |
| dc.publisher | TIP ARASTIRMALARI DERNEGI | en_US |
| dc.relation.ispartof | European Journal of General Medicine | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Chondroectodermal Dysplasia | en_US |
| dc.subject | Ellis-Van Creveld (Evc) Syndrome | en_US |
| dc.subject | Pulmonary Hypertension | en_US |
| dc.subject | Single Atrium | en_US |
| dc.title | Ellis-Van Creveld Syndrome | en_US |
| dc.type | Article | en_US |