dc.contributor.author | Hatipo?lu N. | |
dc.contributor.author | Kurto?lu S. | |
dc.contributor.author | Büyükayhan D. | |
dc.contributor.author | Akçakuş M. | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:31:18Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:31:18Z | |
dc.date.issued | 2009 | |
dc.identifier.issn | 1308-5727 | |
dc.identifier.uri | https://dx.doi.org/10.4274/jcrpe.v1i5.252 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/5169 | |
dc.description.abstract | Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome with midline defect hypothalamopituitary endocrinopathy is expected, however hormonal disorders in EEC syndrome have rarely been reported. We present two patients with EEC syndrome associated with hypothalamo-pituitary insufficiency. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. All rights reserved. | en_US |
dc.description.sponsorship | Hatipo?lu, N.; Department of Pediatrics, Pediatric Endocrinology Unit, Erciyes University Medical Faculty, Kayseri, Turkey; email: nihalhatipoglu@yahoo.com | en_US |
dc.language.iso | eng | en_US |
dc.relation.isversionof | 10.4274/jcrpe.v1i5.252 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | EEC syndrome | en_US |
dc.subject | Hypothalamo-pituitary insufficiency | en_US |
dc.title | Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome | en_US |
dc.type | article | en_US |
dc.relation.journal | JCRPE Journal of Clinical Research in Pediatric Endocrinology | en_US |
dc.contributor.department | Hatipo?lu, N., Department of Pediatrics, Pediatric Endocrinology Unit, Erciyes University Medical Faculty, Kayseri, Turkey -- Kurto?lu, S., Department of Pediatrics, Pediatric Endocrinology Unit, Erciyes University Medical Faculty, Kayseri, Turkey -- Büyükayhan, D., Department of Pediatrics, Neonatology Unit, Cumhuriyet University Medical Faculty, Sivas, Turkey -- Akçakuş, M., Department of Pediatrics, Neonatology Unit, Cumhuriyet University Medical Faculty, Sivas, Turkey | en_US |
dc.identifier.volume | 1 | en_US |
dc.identifier.issue | 5 | en_US |
dc.identifier.endpage | 255 | en_US |
dc.identifier.startpage | 252 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |