{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T04:21:19Z","timestamp":1774930879034,"version":"3.50.1"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T00:00:00Z","timestamp":1687910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal\u2010recessive disease caused by mutations in the leucine\u2010rich repeat kinase 1 (LRRK1) gene. It is a sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones, predominantly at the metaphyses and vertebrae. Phenotypic features can be short stature, pathological fractures, delayed development, and hypotonia, but they are not uniformly present, and relatively few cases are known from the literature. A 40\u2010year\u2010old man was seen at our bone center because of nonspontaneous multiple peripheral low\u2010energy trauma fractures since puberty. He had no other complaints and his family history was negative. Except for a relatively short stature (167\u2009cm; \u22121.5 SD), there were no abnormalities on examination, including laboratory tests. Initially, a suspicion was raised of osteogenesis imperfecta, but bone mineral density was high and X\u2010rays of the whole skeleton showed osteosclerosis of the metaphyses of long bones and vertebrae. Whole\u2010exome sequencing showed a homozygous, likely pathogenic, variant (American College of Medical Genetics and Genomics criteria class 4) in the LRRK1 gene, fitting the diagnosis of OSMD. In conclusion, we described a 40\u2010year\u2010old patient with osteosclerotic metaphyseal dysplasia caused by a homozygous variant in the LRRK1 gene, resulting in multiple fractures of the long bones without other features of the disease, adding to the phenotypic variation of OSMD. \u00a9 2023 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10755","type":"journal-article","created":{"date-parts":[[2023,6,29]],"date-time":"2023-06-29T01:11:53Z","timestamp":1688001113000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic\n                    <scp>LRRK1<\/scp>\n                    Variant as a Cause of Recurrent Long Bone Fractures"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6938-065X","authenticated-orcid":false,"given":"Evert F.S.","family":"van Velsen","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Erasmus Medical Center  Rotterdam The Netherlands"},{"name":"Erasmus MC Bone Center Erasmus Medical Center  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serwet","family":"Demirdas","sequence":"additional","affiliation":[{"name":"Erasmus MC Bone Center Erasmus Medical Center  Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Erasmus Medical Center  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Hanff","sequence":"additional","affiliation":[{"name":"Erasmus MC Bone Center Erasmus Medical Center  Rotterdam The Netherlands"},{"name":"Department of Radiology and Nuclear Medicine Erasmus Medical Center  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Carola","family":"Zillikens","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Erasmus Medical Center  Rotterdam The Netherlands"},{"name":"Erasmus MC Bone Center Erasmus Medical Center  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,6,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3995"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012448"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/boneres.2017.3"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104383"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103756"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.136"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12352"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-246789"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-015-2190-9"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2022.116567"}],"container-title":["JBMR Plus"],"original-title":[],"language":"en","deposited":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T09:58:10Z","timestamp":1710410290000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article\/7\/8\/n\/a\/7612312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,28]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/jbm4.10755"],"URL":"https:\/\/doi.org\/10.1002\/jbm4.10755","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1002\/JBM4.10755\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBM4.10755\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBM4.10755\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBM4.10755\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBM4.10755\/v1\/decision1","asserted-by":"object"}]},"ISSN":["2473-4039","2473-4039"],"issn-type":[{"value":"2473-4039","type":"print"},{"value":"2473-4039","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,28]]},"assertion":[{"value":"2023-02-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e10755"}}