{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:39:51Z","timestamp":1787755191996,"version":"build-2784847793"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n                    <jats:title>Case:<\/jats:title>\n                    <jats:p>\n                      We report an 18-year-old patient with a clinical phenotype consistent with severe osteogenesis imperfecta (OI) with frequent fractures, short stature, shortening and bowing of extremities, and unusual radiographic features of severe fibrous dysplasia, including lytic lesions and a \u201cground-glass\u201d appearance. Genetic testing for the patient was notable for a c.119C&gt;T (p.Ser40Leu) variant in exon 1 of\n                      <jats:italic toggle=\"yes\">IFITM5<\/jats:italic>\n                      and a c.676C&gt;A (Pro226Thr) variant in exon 5 of\n                      <jats:italic toggle=\"yes\">CREB3L1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      This unusual skeletal presentation was in the setting of a rare\n                      <jats:italic toggle=\"yes\">IFITM5<\/jats:italic>\n                      mutation and represents a unique case of severe OI.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.2106\/jbjs.cc.21.00480","type":"journal-article","created":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T15:00:10Z","timestamp":1637593210000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["An Unusual Presentation of Osteogenesis Imperfecta"],"prefix":"10.2106","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4452-002X","authenticated-orcid":false,"given":"Sarah E.","family":"Lindsay","sequence":"first","affiliation":[{"name":"Oregon Health & Science University, Portland, Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4073-6683","authenticated-orcid":false,"given":"Lindsey E.","family":"Nicol","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children\u2014Portland, Portland, Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley 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