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In childhood, focus is on managing symptoms and removing symptomatic exostoses, while in adulthood, MRI is performed to rule out malignant transformation, as argued in this review.<\/jats:p>","DOI":"10.61409\/v07240452","type":"journal-article","created":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T14:09:06Z","timestamp":1730902146000},"page":"1-9","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary multiple exostoses"],"prefix":"10.61409","author":[{"given":"Emma","family":"S\u00f8nderskov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan Duedal","family":"R\u00f6lfing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Baad-Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bjarne","family":"M\u00f8ller-Madsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"40208","published-online":{"date-parts":[[2024,10,21]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"D'Arienzo A, Andreani L, Sacchetti F et al. 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Connect Tissue Res. 2015;56(4):272-80. https:\/\/doi.org\/10.3109\/03008207.2015.1045066","DOI":"10.3109\/03008207.2015.1045066"},{"key":"ref27","doi-asserted-by":"publisher","unstructured":"Inubushi T, Lemire I, Irie F, Yamaguchi Y. Palovarotene inhibits osteochondroma formation in a mouse model of multiple hereditary exostoses. J Bone Miner Res. 2018;33(4):658-666. https:\/\/doi.org\/10.1002\/jbmr.3341","DOI":"10.1002\/jbmr.3341"},{"key":"ref28","doi-asserted-by":"publisher","unstructured":"Farrell ND, Dooley JH, Sheffer BW et al. Radiation exposure in multiple hereditary exostoses: a retrospective review. 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