{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:23:59Z","timestamp":1761845039069,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T00:00:00Z","timestamp":1563408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010018","name":"Doctoral Start-up Foundation of Liaoning Province","doi-asserted-by":"publisher","award":["201601386"],"award-info":[{"award-number":["201601386"]}],"id":[{"id":"10.13039\/501100010018","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007300","name":"China Medical University","doi-asserted-by":"publisher","award":["2018-0-5"],"award-info":[{"award-number":["2018-0-5"]}],"id":[{"id":"10.13039\/501100007300","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spine, elbow, and fingers. Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (<jats:italic>FGFR2<\/jats:italic>) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reported a three\u2010generation family with Crouzon syndrome; the proband showed extremely severe limb abnormalities. The clinical features were obtained by physical examination and radiographic examination. Sanger sequencing of all 18 exons of <jats:italic>FGFR2<\/jats:italic> was conducted to identify the disease\u2010causing mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband was a 44\u2010year\u2010old man who showed characteristics of Crouzon syndrome, including craniofacial dysostosis, shallow orbits, proptosis, midface hypoplasia, beaked nose, strabismus, short superior lip, short stature, and neck injection. In addition to these typical characteristics, radiographic examination showed severe scoliosis, heterotopic ossification of the elbows, knee osteoarthritis, metacarpophalangeal joint valgus, collapse of the articular surface of the thumb metacarpal, knuckle ossification and fusion. Sanger sequencing identified a heterozygous pathogenic variant c.799T&gt;C, p.(Ser267Pro) in exon 7 of <jats:italic>FGFR2<\/jats:italic> in affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Crouzon syndrome in this three\u2010generation family was caused by c.799T&gt;C <jats:italic>FGFR2<\/jats:italic>, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T&gt;C <jats:italic>FGFR2<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.843","type":"journal-article","created":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T09:21:49Z","timestamp":1563441709000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three\u2010generation family with Crouzon syndrome carrying a mutant c.799T&gt;C <i>FGFR2<\/i>"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4567-3765","authenticated-orcid":false,"given":"Meina","family":"Lin","sequence":"first","affiliation":[{"name":"Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongping","family":"Lu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Sui","sequence":"additional","affiliation":[{"name":"Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Zhao","sequence":"additional","affiliation":[{"name":"Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Jin","sequence":"additional","affiliation":[{"name":"Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongxu","family":"Yi","sequence":"additional","affiliation":[{"name":"Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Jiang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002560050203"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.07.2008.0586"},{"issue":"3","key":"e_1_2_6_4_1","first-page":"205","article-title":"Radiographic hand abnormalities in fifteen cases of Crouzon syndrome","volume":"2","author":"Kaler S. 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