{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T22:20:57Z","timestamp":1759962057329,"version":"build-2065373602"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,5,2]],"date-time":"2016-05-02T00:00:00Z","timestamp":1462147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH\/NIDCR","award":["DE019527","DE020843"],"award-info":[{"award-number":["DE019527","DE020843"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Anatomical Record"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Ellis\u2010van Creveld (EvC) syndrome is a genetic disorder with mutations in either <jats:italic>EVC<\/jats:italic> or <jats:italic>EVC2<\/jats:italic> gene. Previous case studies reported that EvC patients underwent orthodontic treatment, suggesting the presence of craniofacial bone phenotypes. To investigate whether a mutation in <jats:italic>EVC2<\/jats:italic> gene causes a craniofacial bone phenotype, <jats:italic>Evc2<\/jats:italic> knockout (KO) mice were generated and cephalometric analysis was performed. The heads of wild type (WT), heterozygous (Het) and homozygous <jats:italic>Evc2<\/jats:italic> KO mice (1\u2010, 3\u2010, and 6\u2010week\u2010old) were prepared and cephalometric analysis based on the selected reference points on lateral X\u2010ray radiographs was performed. The linear and angular bone measurements were then calculated, compared between WT, Het and KO and statistically analyzed at each time point. Our data showed that length of craniofacial bones in KO was significantly lowered by \u223c20% to that of WT and Het, the growth of certain bones, including nasal bone, palatal length, and premaxilla was more affected in KO, and the reduction in these bone length was more significantly enhanced at later postnatal time points (3 and 6 weeks) than early time point (1 week). Furthermore, bone\u2010to\u2010bone relationship to cranial base and cranial vault in KO was remarkably changed, i.e. cranial vault and nasal bone were depressed and premaxilla and mandible were developed in a more ventral direction. Our study was the first to show the cause\u2010effect relationship between <jats:italic>Evc2<\/jats:italic> deficiency and craniofacial defects in EvC syndrome, demonstrating that <jats:italic>Evc2<\/jats:italic> is required for craniofacial bone development and its deficiency leads to specific facial bone growth defect. Anat Rec, 299:1110\u20131120, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ar.23353","type":"journal-article","created":{"date-parts":[[2016,4,18]],"date-time":"2016-04-18T20:12:42Z","timestamp":1461010362000},"page":"1110-1120","source":"Crossref","is-referenced-by-count":9,"title":["Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development"],"prefix":"10.1002","volume":"299","author":[{"given":"Mohammed K.","family":"Badri","sequence":"first","affiliation":[{"name":"Department of Molecular and Cell Biology Henry M. Goldman School of Dental Medicine, Boston University Boston Massachusetts"},{"name":"Department of Pediatric Dentistry and Orthodontics College of Dentistry, Taibah University Al\u2010Madinah Al\u2010Munawarah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Honghao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences School of Dentistry, University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshio","family":"Ohyama","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cell Biology Henry M. Goldman School of Dental Medicine, Boston University Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sundharamani","family":"Venkitapathi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cell Biology Henry M. 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