{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T08:17:35Z","timestamp":1769501855615,"version":"3.49.0"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T00:00:00Z","timestamp":1548633600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T00:00:00Z","timestamp":1550534400000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>Camurati-Engelmann disease (OMIM 31300) is a rare cranio-tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly-inherited mutations in the transforming growth factor beta 1 (TGFB1) gene. A wide variation in phenotype has been recognized, even within families carrying the same mutation. In addition, aspects of the natural history of the disorder, in particular whether it is always progressive or can remit spontaneously, remain uncertain. In a large kindred carrying a TGFB1 gene mutation (c.653G\u2009&amp;gt;\u2009A; p.R218H) we have attempted to clarify the extent of phenotypic variability and the natural history of the disease through detailed individual histories of symptoms, and skeletal imaging by both radiography and scintigraphy. Only one subject had the classical childhood onset with bone pain in the legs and gait disturbance. Eight subjects reported the onset of leg pain in their teenage years that, by their early 20s, had either resolved or persisted at a low level. Two of these eight later developed cranial nerve palsies. There was a wide variation in the radiographic appearance in adults, but disease extent and activity in long bones, as assessed by scintigraphy, was inversely correlated with age (p\u2009&amp;lt;\u20090.025). In younger subjects the radiographic and scintigraphic appearances were concordant, but in older subjects the scintigram could be quiescent despite florid radiographic changes. Sequential scintigrams in two subjects showed reduced activity in the later scan. One subject had suffered meningoencephalitis in early childhood that resulted in paresis of one arm. The affected arm showed markedly less disease involvement, implicating mechanical or growth factors in its etiology. Our data suggest that the natural history of Camurati-Engelmann disease can be benign, and that disease activity commonly attenuates in adulthood. Severe cases of childhood onset and\/or with cranial nerve involvement, may occur only in a minority of mutation carriers. \u00a9 2019 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.3670","type":"journal-article","created":{"date-parts":[[2019,1,29]],"date-time":"2019-01-29T03:37:33Z","timestamp":1548733053000},"page":"875-882","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Observations on the Natural History of Camurati-Engelmann Disease"],"prefix":"10.1093","volume":"34","author":[{"given":"Peter","family":"Hughes","sequence":"first","affiliation":[{"name":"RadiologyAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibrahim","family":"Hassan","sequence":"additional","affiliation":[{"name":"Nuclear MedicineAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorna","family":"Que","sequence":"additional","affiliation":[{"name":"Nuclear MedicineAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Mead","sequence":"additional","affiliation":[{"name":"Nuclear MedicineAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica Heejong","family":"Lee","sequence":"additional","affiliation":[{"name":"EndocrinologyAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald R","family":"Love","sequence":"additional","affiliation":[{"name":"Diagnostic GeneticsLabPlusAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra O","family":"Prosser","sequence":"additional","affiliation":[{"name":"Diagnostic GeneticsLabPlusAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tim","family":"Cundy","sequence":"additional","affiliation":[{"name":"Department of MedicineFaculty of Medical & Health SciencesUniversity of AucklandAucklandNew Zealand"},{"name":"EndocrinologyAuckland City HospitalAucklandNew Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,1,28]]},"reference":[{"key":"2024021014493545000_jbmr3670-bib-0001","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"},{"key":"2024021014493545000_jbmr3670-bib-0002","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1148\/51.1.11","article-title":"Progressive diaphyseal 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