{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T20:07:30Z","timestamp":1773000450932,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T00:00:00Z","timestamp":1766102400000},"content-version":"vor","delay-in-days":352,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Dentistry"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Ellis\u2013van Creveld (EVC) syndrome, also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder that affects multiple embryonic tissues. It is primarily caused by mutations in the\n                      <jats:italic>EVC<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patient Information<\/jats:title>\n                    <jats:p>\n                      We report an 11\u2010year\u2010old male diagnosed with EVC syndrome, who carries a novel homozygous pathogenic mutation, c.1750delC (p.Q584Rfs\u22174), in the\n                      <jats:italic>EVC<\/jats:italic>\n                      gene, identified through whole\u2010exome sequencing (WES) and confirmed by Sanger sequencing. Clinical features included multiple aberrant frenula, disproportionate short stature, polydactyly, and dystrophic nails.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Dental Management<\/jats:title>\n                    <jats:p>\n                      The patient received multidisciplinary dental care, including composite restorations and prosthodontic rehabilitation with partial dentures adapted for future tooth eruption. The identification of this specific\n                      <jats:italic>EVC<\/jats:italic>\n                      mutation informed anticipatory dental planning, leading to individualized management strategies for optimal dental care.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This case highlights a novel\n                      <jats:italic>EVC<\/jats:italic>\n                      gene mutation, underscoring the importance of genetic analysis in guiding comprehensive pediatric dental care for EVC syndrome. Early recognition of dental manifestations, coupled with molecular confirmation, supports tailored interventions to optimize oral health outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crid\/6628305","type":"journal-article","created":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T10:03:47Z","timestamp":1766138627000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report of a Novel EVC Gene Mutation in Ellis\u2013van Creveld Syndrome: Implications for Pediatric Dental Management"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6656-0018","authenticated-orcid":false,"given":"Mahnegar","family":"Shariati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5688-9617","authenticated-orcid":false,"given":"Sara","family":"Tavassoli-Hojjati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-7853-9856","authenticated-orcid":false,"given":"Amirahmad Pahlavan","family":"Hoseini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8414-385X","authenticated-orcid":false,"given":"Hanieh","family":"Jadidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,19]]},"reference":[{"key":"e_1_2_17_1_2","doi-asserted-by":"publisher","DOI":"10.1111\/scd.12855"},{"key":"e_1_2_17_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.885"},{"key":"e_1_2_17_3_2","doi-asserted-by":"publisher","DOI":"10.23804\/ejpd.2019.20.04.09"},{"key":"e_1_2_17_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.3919"},{"key":"e_1_2_17_5_2","doi-asserted-by":"publisher","DOI":"10.15388\/Amed.2021.28.2.11"},{"key":"e_1_2_17_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijscr.2017.08.022"},{"key":"e_1_2_17_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60101-5"},{"key":"e_1_2_17_8_2","doi-asserted-by":"publisher","DOI":"10.4103\/1735-3327.178213"},{"key":"e_1_2_17_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/368063"},{"key":"e_1_2_17_10_2","first-page":"340","article-title":"Ellis-van Creveld Syndrome. 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