{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:48:41Z","timestamp":1790419721819,"version":"4.1.0"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:sec>\n                    <jats:title>Case:<\/jats:title>\n                    <jats:p>We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic interventions over her lifetime.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>OSMED is a very rare syndrome. Arthritis and joint pains presented in her early adolescence and progressed to the point of requiring joint replacements by her 20s. Early intervention and monitoring improved the quality of life for this patient.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2106\/jbjs.cc.20.00140","type":"journal-article","created":{"date-parts":[[2020,10,16]],"date-time":"2020-10-16T14:15:18Z","timestamp":1602857718000},"page":"e20.00140-e20.00140","source":"Crossref","is-referenced-by-count":6,"title":["Otospondylomegaepiphyseal Dysplasia"],"prefix":"10.2106","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6167-818X","authenticated-orcid":false,"given":"Benjamin R.","family":"Williams","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery, University of Minnesota, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1572-0767","authenticated-orcid":false,"given":"Amy R.U.L.","family":"Calhoun","sequence":"additional","affiliation":[{"name":"Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1267-2387","authenticated-orcid":false,"given":"Kenneth J.","family":"Holton","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, University of Minnesota, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5889-1008","authenticated-orcid":false,"given":"Brandon J.","family":"Kelly","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, University of Minnesota, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9002-1774","authenticated-orcid":false,"given":"Jonathan N.","family":"Sembrano","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, University of Minnesota, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2020]]},"reference":[{"issue":"3","key":"bib1-20230719","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/0092-8674(95)90493-X","article-title":"Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus","volume":"80","author":"Vikkula","year":"1995","journal-title":"Cell."},{"issue":"3","key":"bib2-20230719","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-O","article-title":"Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene","volume":"70","author":"van Steensel","year":"1997","journal-title":"Am J Med Genet."},{"key":"bib3-20230719","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s002470050459","article-title":"The type XI collagenopathies","volume":"28","author":"Spranger","year":"1998","journal-title":"Pediatr Radiol."},{"issue":"2","key":"bib4-20230719","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1086\/302750","article-title":"Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene","volume":"66","author":"Melkoniemi","year":"2000","journal-title":"Am J Hum Genet."},{"issue":"4","key":"bib5-20230719","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1007\/s00438-015-0995-9","article-title":"Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53","volume":"290","author":"Chakchouk","year":"2015","journal-title":"Mol Genet Genomics."},{"issue":"6","key":"bib6-20230719","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1110\/ps.051363105","article-title":"Structural model of the amino propeptide of collagen XI \u03b11 chain with similarity to the LNS domains","volume":"14","author":"Fallahi","year":"2005","journal-title":"Protein Sci."},{"key":"bib7-20230719","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1259\/0007-1285-47-557-244","article-title":"A bone dysplasia with deafness","volume":"47","author":"Insley","year":"1974","journal-title":"Br J Radiol."},{"issue":"4","key":"bib8-20230719","first-page":"361","article-title":"Oto-spondylo-megaepiphyseal dysplasia (OSMED)","volume":"37","author":"Giedion","year":"1982","journal-title":"Helv Paediatr Acta."},{"key":"bib9-20230719","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.ijporl.2010.12.004","article-title":"Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2","volume":"75","author":"Tokgoz-Yilmaz","year":"2011","journal-title":"Int J Pediatr Otorhinolaryngol."},{"key":"bib10-20230719","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1002\/ajmg.a.31205","article-title":"Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene","volume":"140A","author":"Temtamy","year":"2006","journal-title":"Am J Med Genet A."},{"issue":"1","key":"bib11-20230719","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/ajmg.a.30371","article-title":"COL11A2 mutation associated with autosomal recessive Weissenbacher\u2013Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)","volume":"132","author":"Harel","year":"2005","journal-title":"Am J Med Genet A."},{"issue":"2","key":"bib12-20230719","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O","article-title":"Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher\u2010Zweym\u00fcller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)","volume":"80","author":"Pihlajamaa","year":"1998","journal-title":"Am J Med Genet."},{"issue":"3","key":"bib13-20230719","first-page":"346","article-title":"A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis","volume":"53","author":"Karaer","year":"2011","journal-title":"Turk J Pediatr."},{"issue":"10","key":"bib14-20230719","doi-asserted-by":"crossref","first-page":"e61","DOI":"10.1136\/jmg.2005.032615","article-title":"Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus","volume":"42","author":"Chen","year":"2005","journal-title":"J Med Genet."},{"issue":"5","key":"bib15-20230719","first-page":"920","article-title":"Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene","volume":"35","author":"Avcin","year":"2008","journal-title":"J Rheumatol."},{"issue":"6","key":"bib16-20230719","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1097\/GIM.0b013e3181daae9b","article-title":"The skeletal dysplasias","volume":"12","author":"Krakow","year":"2010","journal-title":"Genet Med."},{"issue":"2","key":"bib17-20230719","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/bdrc.10014","article-title":"Physiology and pathophysiology of the growth plate","volume":"69","author":"Ballock","year":"2003","journal-title":"Birth Defects Res C Embryo Today Rev."}],"container-title":["JBJS Case Connector"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.20.00140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:44:35Z","timestamp":1787751875000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.20.00140"}},"subtitle":["A Case Report of Clinical and Radiographic Findings"],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":17,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.2106\/jbjs.cc.20.00140","relation":{},"ISSN":["2160-3251"],"issn-type":[{"value":"2160-3251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}