VACTERL-H associated with central hypothyroidism: A case report
dc.contributor.author | Aliefendioğlu, Didem | |
dc.contributor.author | Bademci, Gülşah | |
dc.contributor.author | Keskil, S. | |
dc.contributor.author | Somuncu, Salih | |
dc.contributor.author | Mısırlıoğlu, E. | |
dc.contributor.author | Çakmak, Ahmet Murat | |
dc.date.accessioned | 2020-06-25T17:44:04Z | |
dc.date.available | 2020-06-25T17:44:04Z | |
dc.date.issued | 2007 | |
dc.description.abstract | VACTERL-H associated with central hypothyroidism: A case report: The VACTERL-14 syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. This condition is recognized as a hereditary entity with poor prognosis. We present a newborn weighing 3400 g, born by cesarean section to a 27 years old mother who had had an irregular antenatal follow-up. The patient had severe hydrocephalus, proximal esophageal atresia and distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus and recto-urethral fistula, patent ductus arterious, a bifid scrotum, a vertebral defect, sacral dimple and central hypothyroidism. The patient had no limb defects. The association of central hypothyroidism and VACTER-L-H has previously not been reported. | en_US |
dc.identifier.citation | closedAccess | en_US |
dc.identifier.endpage | 335 | en_US |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 3 | en_US |
dc.identifier.pmid | 18019375 | |
dc.identifier.scopus | 2-s2.0-35649026316 | |
dc.identifier.scopusquality | N/A | |
dc.identifier.startpage | 331 | en_US |
dc.identifier.uri | https://hdl.handle.net/20.500.12587/3999 | |
dc.identifier.volume | 18 | en_US |
dc.identifier.wos | WOS:000250607400009 | |
dc.identifier.wosquality | Q4 | |
dc.indekslendigikaynak | Web of Science | |
dc.indekslendigikaynak | Scopus | |
dc.indekslendigikaynak | PubMed | |
dc.language.iso | en | |
dc.publisher | Medecine Et Hygiene | en_US |
dc.relation.ispartof | Genetic Counseling | |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | VACTERL-H | en_US |
dc.subject | hydrocephalus | en_US |
dc.subject | central hypothyroidism | en_US |
dc.subject | newborn | en_US |
dc.title | VACTERL-H associated with central hypothyroidism: A case report | en_US |
dc.type | Article |