Thanatophoric Dysplasia: a Case Report of Recurrence
| dc.contributor.author | Üstün, Yusuf | |
| dc.contributor.author | Üstün, Engin Yaprak | |
| dc.contributor.author | Zeteroğlu, Şahin | |
| dc.contributor.author | Kamacı, Mansur | |
| dc.contributor.author | Şahin, Hanım Güler | |
| dc.contributor.author | Şengül, Muzaffer | |
| dc.date.accessioned | 2025-05-10T17:31:49Z | |
| dc.date.available | 2025-05-10T17:31:49Z | |
| dc.date.issued | 2005 | |
| dc.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| dc.department-temp | Van Yüzüncü Yil Üni̇versi̇tesi̇,Van Yüzüncü Yil Üni̇versi̇tesi̇,Van Yüzüncü Yil Üni̇versi̇tesi̇,Van Yüzüncü Yil Üni̇versi̇tesi̇,Van Yüzüncü Yil Üni̇versi̇tesi̇,Van Yüzüncü Yil Üni̇versi̇tesi̇ | en_US |
| dc.description.abstract | Thanatophoric dysplasia is a sporadic lethal neonatal dwarfism characterized by shortening of the limbs, macrocephaly, pear-shaped thorax and short ribs. It occurs with an estimated frequency of about 0.3-0.5 in 10000 births. The majority of cases are sporadic but rare reports of recurrence exist. We reported a case who had consecutive pregnancies with thanatophoric dysplasia diagnosed on antenatal ultrasound. In cases of consanguinous marriages with a history of malformed fetus like our case, genetic counselling should be arranged for their further pregnancy | en_US |
| dc.identifier.endpage | 63 | en_US |
| dc.identifier.issn | 1300-4751 | |
| dc.identifier.issn | 2602-4918 | |
| dc.identifier.issue | 1 | en_US |
| dc.identifier.scopusquality | N/A | |
| dc.identifier.startpage | 62 | en_US |
| dc.identifier.trdizinid | 50749 | |
| dc.identifier.uri | https://search.trdizin.gov.tr/en/yayin/detay/50749/thanatophoric-dysplasia-a-case-report-of-recurrence | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/13101 | |
| dc.identifier.volume | 11 | en_US |
| dc.identifier.wosquality | N/A | |
| dc.language.iso | en | en_US |
| dc.relation.ispartof | GORM:Gynecology Obstetrics & Reproductive Medicine | en_US |
| dc.relation.publicationcategory | Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Kadın Hastalıkları Ve Doğum | en_US |
| dc.subject | Pediatri | en_US |
| dc.title | Thanatophoric Dysplasia: a Case Report of Recurrence | en_US |
| dc.type | Article | en_US |