{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:10Z","timestamp":1740164110743,"version":"3.37.3"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in<jats:italic>EVC<\/jats:italic>and<jats:italic>EVC2<\/jats:italic>genes.<jats:italic>Case Presentation<\/jats:italic>. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the<jats:italic>EVC2<\/jats:italic>gene, c.2653C&gt;T (p.(Arg885<jats:sup>*<\/jats:sup>)) and c.2012_2015del (p.(Leu671<jats:sup>*<\/jats:sup>)) in exons 15 and 13, respectively, with the latter being reported for the first time.<jats:italic>Conclusion<\/jats:italic>. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.<\/jats:p>","DOI":"10.1155\/2015\/528481","type":"journal-article","created":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T17:04:07Z","timestamp":1430413447000},"page":"1-4","source":"Crossref","is-referenced-by-count":1,"title":["Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families"],"prefix":"10.1155","volume":"2015","author":[{"given":"Maria","family":"Valencia","sequence":"first","affiliation":[{"name":"Instituto de Investigaciones Biom\u00e9dicas, Consejo Superior de Cient\u00edficas, Universidad Aut\u00f3noma de Madrid, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"Tabet","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Yazbeck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alia","family":"Araj","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor L.","family":"Ruiz-Perez","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Biom\u00e9dicas, Consejo Superior de Cient\u00edficas, Universidad Aut\u00f3noma de Madrid, Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalil","family":"Charaffedine","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farah","family":"Fares","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Badra","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3200-1086","authenticated-orcid":true,"given":"Chantal","family":"Farra","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon"},{"name":"Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. 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