{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:45:23Z","timestamp":1787755523079,"version":"build-2784847793"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"\n Case:<\/jats:title>\n A 44-year-old woman presented with easy fatigability, diplopia, dizziness, and a 2-year history of pelvic, hip, and lower extremity aching and pain. Radiograph, magnetic resonance imaging, computed tomography, and histopathologic imaging studies were obtained. Hypersclerosis of the affected bones led to the initiation of a sclerotic bone dysplasia workup and sequencing of the transforming growth factor beta 1 gene located on chromosome 19q13 revealed a heterozygous rare missense variant in exon-4, leading to a final diagnosis of Camurati-Engelmann disease (CED). Medical treatment thus far has had a minimal effect on her symptoms, and the patient continues to be followed.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n This specific mutation has been reported only once previously in a patient with CED. This case report expands the typical phenotype associated with CED in association with the c.667T>C, p.Cys223Arg variant.<\/jats:p>\n <\/jats:sec>","DOI":"10.2106\/jbjs.cc.19.00400","type":"journal-article","created":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T11:00:13Z","timestamp":1594378813000},"page":"e19.00400-e19.00400","source":"Crossref","is-referenced-by-count":2,"title":["A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease"],"prefix":"10.2106","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7007-2179","authenticated-orcid":false,"given":"Rebisi A.","family":"Owhonda","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery, University of Texas Southwestern, Dallas, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4784-2665","authenticated-orcid":false,"given":"Joel E.","family":"Wells","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, University of Texas Southwestern, Dallas, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4721-3340","authenticated-orcid":false,"given":"Eric W.","family":"Lloyd","sequence":"additional","affiliation":[{"name":"Boca Raton Orthopedics Group, Boca Raton, Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9267-4413","authenticated-orcid":false,"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children\u2014St. Louis, St. Louis, Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-4449","authenticated-orcid":false,"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2020]]},"reference":[{"key":"bib1-20230720","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2005.033522","article-title":"Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment","volume":"43","author":"Janssens","year":"2006","journal-title":"J Med Genet."},{"issue":"5","key":"bib2-20230720","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1007\/s00223-019-00532-1","article-title":"Camurati-Engelmann 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