{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:43:23Z","timestamp":1786653803820,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3-4","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,9,9]],"date-time":"2015-09-09T00:00:00Z","timestamp":1441756800000},"content-version":"vor","delay-in-days":251,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease result-ing from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodyspla-sia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure. On clinical examination, he presented with typical features of EvC, cyanosis and dyspnea. EvC was confirmed by genetic tests, and echocardiography showed a partial atrioventricular canal defect with supra-systemic pulmonary artery pressure. The patient was treated; howev-er, the evolution was fatal.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.ijpam.2015.08.004","type":"journal-article","created":{"date-parts":[[2015,11,21]],"date-time":"2015-11-21T23:43:52Z","timestamp":1448149432000},"page":"161-165","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome"],"prefix":"10.4103","volume":"2","author":[{"given":"Houda","family":"Ajmi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor L.","family":"Ruiz Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saida","family":"Hassayoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameh","family":"Mabrouk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sana","family":"Mahdoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Essia","family":"Boughzela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noura","family":"Zouari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saoussan","family":"Abroug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-13-20240318","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1007\/s12519-011-0256-x","article-title":"Ellis-van Creveld syndrome: report of two cases","volume":"7","author":"Mehndiratta","year":"2011","journal-title":"World J Pediatr"},{"key":"R2-13-20240318","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s00439-006-0237-7","article-title":"Sequencing EVC and EVC2 identifies muta-tions in two-thirds of Ellis-van Creveld syndrome patients","volume":"120","author":"Tompson","year":"2007","journal-title":"Hum Genet"},{"key":"R3-13-20240318","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.ejmg.2012.11.005","article-title":"Novel and recurrent EVC and EVC2 muta-tions in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis","volume":"56","author":"D\u2019Asdia","year":"2013","journal-title":"Eur J Med Genet"},{"key":"R4-13-20240318","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1086\/368063","article-title":"Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome","volume":"72","author":"Ruiz-Perez","year":"2003","journal-title":"Am J Hum Genet"},{"key":"R5-13-20240318","doi-asserted-by":"crossref","first-page":"2903","DOI":"10.1242\/dev.007542","article-title":"Evc is a positive mediator of Ihh- regulated bone growth that localises at the base of chon-drocyte cilia","volume":"134","author":"Ruiz-Perez","year":"2007","journal-title":"Development"},{"key":"R6-13-20240318","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1093\/hmg\/dds409","article-title":"The ciliary Evc\/Evc2 complex interacts with smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu\/Gli3 dissociation and Gli3 trafficking in primary cilia","volume":"22","author":"Caparr\u00f3s-Mart\u00edn","year":"2013","journal-title":"Hum Mol Genet"},{"key":"R7-13-20240318","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1007\/s00246-011-0006-9","article-title":"Ellis-van creveld syndrome and congenital heart defects: presentation of an additional 32 cases","volume":"32","author":"Hills","year":"2011","journal-title":"Pediatr Cardiol"},{"key":"R8-13-20240318","doi-asserted-by":"crossref","first-page":"1813","DOI":"10.1093\/hmg\/ddp098","article-title":"Analysis of Ellis van Creveld syndrome gene products: impli-cations for cardiovascular development and disease","volume":"18","author":"Sund","year":"2009","journal-title":"Hum Mol Genet"},{"key":"R9-13-20240318","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<110::AID-AJMG25>3.0.CO;2-W","article-title":"The atrio-ventricular canal defect is the congenital heart disease con-necting short rib-polydactyly and oral-facial-digital syndromes","volume":"68","author":"Digilio","year":"1997","journal-title":"Am J Med Genet"}],"container-title":["International Journal of Pediatrics and Adolescent Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352646715001003?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352646715001003?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ovid.com\/01863514-201502030-00013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:42:28Z","timestamp":1786650148000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01863514-201502030-00013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":9,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.1016\/j.ijpam.2015.08.004","relation":{},"ISSN":["2352-6467"],"issn-type":[{"value":"2352-6467","type":"print"}],"subject":[],"published":{"date-parts":[[2015]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome","name":"articletitle","label":"Article Title"},{"value":"International Journal of Pediatrics and Adolescent Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijpam.2015.08.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 King Faisal Specialist Hospital & Research Centre (General Organization), Saudi Arabia. Production and hosting by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}