{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:46:18Z","timestamp":1787755578016,"version":"build-2784847793"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\n Case:<\/jats:title>\n We report the rare case of a 3-year-old male patient with thanatophoric dwarfism, a fatal skeletal dysplasia that arises from an autosomal dominant mutation in the fibroblast growth factor receptor 3 gene. The role of the orthopaedic surgeon in the in the management of this disease is discussed.<\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n We advocate for the close monitoring of disease progression by the orthopaedic surgery team and offer a potential surgical intervention that may help prevent cardiorespiratory demise.<\/jats:p>\n <\/jats:sec>","DOI":"10.2106\/jbjs.cc.23.00183","type":"journal-article","created":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T14:34:40Z","timestamp":1690468480000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Orthopaedic Manifestations of Thanatophoric Dwarfism"],"prefix":"10.2106","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4731-1917","authenticated-orcid":false,"given":"Daniel T.","family":"DeGenova","sequence":"first","affiliation":[{"name":"Department of Orthopedics, OhioHealth Health System, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-9340","authenticated-orcid":false,"given":"Anthony O.","family":"Wing","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, OhioHealth Health System, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2032-8786","authenticated-orcid":false,"given":"Anthony J.","family":"Perugini","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, OhioHealth Health System, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9979-1971","authenticated-orcid":false,"given":"Matthew J.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, Mount Carmel Health System, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Misbrener","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, OhioHealth Riverside Methodist Hospital, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0022-4015","authenticated-orcid":false,"given":"Kirsten","family":"Tulchin-Francis","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Nationwide Children\u2019s Hospital, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8383-3192","authenticated-orcid":false,"given":"Allen","family":"Kadado","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Nationwide Children\u2019s Hospital, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,7]]},"reference":[{"issue":"1","key":"bib1-20240805","doi-asserted-by":"crossref","first-page":"48","DOI":"10.2214\/AJR.08.1524","article-title":"Brain and bone abnormalities of thanatophoric dwarfism","volume":"192","author":"Miller","year":"2009","journal-title":"AJR Am J Roentgenol."},{"issue":"3","key":"bib2-20240805","first-page":"238","article-title":"Thanatophoric dwarfism","volume":"2","author":"Bajaj","year":"2015","journal-title":"Int J Contemp Pediatr."},{"issue":"1","key":"bib4-20240805","first-page":"87","article-title":"Neural arch stenosis and spinal cord injury in thanatophoric dysplasia","volume":"145","author":"Faye-Petersen","year":"1991","journal-title":"Am J Dis Child."},{"issue":"1","key":"bib6-20240805","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1177\/875647939401000106","article-title":"Thanatophoric 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A case report of a long-term survivor","volume":"1","author":"Carroll","year":"2020","journal-title":"Palliat Med Rep."},{"issue":"5","key":"bib15-20240805","first-page":"372","article-title":"Spinal stenosis surgery in pediatric patients with achondroplasia","volume":"106","author":"Sciubba","year":"2007","journal-title":"J Neurosurg."},{"issue":"15","key":"bib16-20240805","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.2106\/JBJS.M.01218","article-title":"Pulmonary and radiographic outcomes of VEPTR (vertical expandable prosthetic titanium rib) treatment in early-onset scoliosis","volume":"96","author":"Dede","year":"2014","journal-title":"J Bone Joint Surg Am."},{"issue":"6","key":"bib17-20240805","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1097\/BPO.0b013e3181e78e6c","article-title":"Vertical expandable prosthetic titanium rib as treatment of thoracic insufficiency syndrome in spondylocostal dysplasia","volume":"30","author":"Ramirez","year":"2010","journal-title":"J Pediatr Orthop."}],"container-title":["JBJS Case Connector"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.23.00183","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:45:21Z","timestamp":1787751921000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.23.00183"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.2106\/jbjs.cc.23.00183","relation":{},"ISSN":["2160-3251"],"issn-type":[{"value":"2160-3251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7]]}}}