{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:37Z","timestamp":1790833837718,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T00:00:00Z","timestamp":1312329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ellis\u2013van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50\u201360% of cases. In this study, we report EvC in a 6\u2010year\u2010old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in <jats:italic>EVC<\/jats:italic> or <jats:italic>EVC2<\/jats:italic> are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous <jats:italic>EVC2<\/jats:italic> mutations, IVS5\u20102A\u2009&gt;\u2009G and c.2653C\u2009&gt;\u2009T (Arg885X), were identified in the patient. The IVS5\u20102A\u2009&gt;\u2009G mutation was inherited from the patient's mother and the c.2653C\u2009&gt;\u2009T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34125","type":"journal-article","created":{"date-parts":[[2011,8,4]],"date-time":"2011-08-04T00:11:57Z","timestamp":1312416717000},"page":"2131-2136","source":"Crossref","is-referenced-by-count":23,"title":["Two novel heterozygous mutations of <i>EVC2<\/i> cause a mild phenotype of Ellis\u2013van Creveld syndrome in a Chinese family"],"prefix":"10.1002","volume":"155","author":[{"given":"Wenjing","family":"Shen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongshan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailan","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,8,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2001.1861994.x"},{"key":"e_1_2_7_3_1","first-page":"387","article-title":"A Turkish family with Ellis\u2010van Creveld syndrome in six siblings; 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