{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:39:01Z","timestamp":1787164741522,"version":"build-2736575974"},"reference-count":20,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.bmj.com\/company\/legal-information\/terms-conditions\/legal-information\/tdm-licencepolicy"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2018,11,21]]},"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>\n                    Male osteoporosis often remains unrecognised. Osteoporotic fractures occur approximately 10 years later in men than in women due to higher peak bone mass. However, 30% of all hip fractures occur in men. Risk factors of osteoporotic fractures can be grouped into primary and secondary causes. We present the case of a 53-year-old man, who suffered a compression fracture of a lumbar vertebra after a generalised seizure and an atraumatic rib fracture 5\u2009months later. We could exclude secondary causes of bone mineral loss such as primary hyperparathyroidism, glucocorticoid use and hypogonadism. However, a heterozygous missense mutation of the\n                    <jats:italic>COL1A1<\/jats:italic>\n                    gene in exon 48 in further search of a secondary cause was found. Therapy was changed from bisphosphonate treatment to teriparatide. Considering the lack of other osteogenesis imperfecta (OI) symptoms and signs, the patient\u2019s illness can be classified as mild. OI should be considered as differential diagnosis in unexplained cases with osteoporosis.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2018-226672","type":"journal-article","created":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T17:19:47Z","timestamp":1545153587000},"page":"e226672","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Special form of osteoporosis in a 53-year-old man"],"prefix":"10.1136","volume":"11","author":[{"given":"Simon","family":"Lampart","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Luzerner Kantonsspital, Luzern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Azzarello-Burri","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Henzen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Luzerner Kantonsspital, Luzern, Switzerland"},{"name":"Division of Endocrinology and Diabetes, Luzerner Kantonsspital, Luzern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Fischli","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes, Luzerner Kantonsspital, Luzern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,12,13]]},"reference":[{"key":"2025082707593458000_11.1.e226672.1","doi-asserted-by":"publisher","DOI":"10.1016\/1043-2760(92)90032-V"},{"key":"2025082707593458000_11.1.e226672.2","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-006-0172-4"},{"key":"2025082707593458000_11.1.e226672.3","doi-asserted-by":"publisher","DOI":"10.1007\/BF01623184"},{"key":"2025082707593458000_11.1.e226672.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)09075-8"},{"key":"2025082707593458000_11.1.e226672.5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3058"},{"key":"2025082707593458000_11.1.e226672.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2012.05.001"},{"key":"2025082707593458000_11.1.e226672.7","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0065-3101(24)00183-X","article-title":"Osteogenesis imperfecta: comprehensive management","volume":"35","author":"Marini","year":"1988","journal-title":"Adv Pediatr"},{"key":"2025082707593458000_11.1.e226672.8","doi-asserted-by":"publisher","DOI":"10.1086\/301689"},{"key":"2025082707593458000_11.1.e226672.9","doi-asserted-by":"crossref","DOI":"10.11604\/pamj.2015.21.11.6834","article-title":"Perinatal lethal type II osteogenesis imperfecta: a case report","volume":"21","author":"Ayadi","year":"2015","journal-title":"Pan Afr Med J"},{"key":"2025082707593458000_11.1.e226672.10","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1097\/GIM.0b013e318202e0f6","article-title":"Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance","volume":"13","author":"Pyott","year":"2011","journal-title":"Genet Med"},{"key":"2025082707593458000_11.1.e226672.11","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1007\/s00198-016-3806-1","article-title":"Strong familial association of bone mineral density between parents and offspring: KNHANES 2008-2011","volume":"28","author":"Choi","year":"2017","journal-title":"Osteoporos Int"},{"key":"2025082707593458000_11.1.e226672.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8529(02)00059-2"},{"key":"2025082707593458000_11.1.e226672.13","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1007\/s11914-018-0435-y","article-title":"Epigenetics of skeletal diseases","volume":"16","author":"Del Real","year":"2018","journal-title":"Curr Osteoporos Rep"},{"key":"2025082707593458000_11.1.e226672.14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.12.5423"},{"key":"2025082707593458000_11.1.e226672.15","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/ajmg.c.31532","article-title":"Pharmacological and biological therapeutic strategies for osteogenesis imperfecta","volume":"172","author":"Marom","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025082707593458000_11.1.e226672.16","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1172\/JCI71101","article-title":"Evaluation of teriparatide treatment in adults with osteogenesis imperfecta","volume":"124","author":"Orwoll","year":"2014","journal-title":"J Clin Invest"},{"key":"2025082707593458000_11.1.e226672.17","doi-asserted-by":"crossref","first-page":"153","DOI":"10.11138\/ccmbm\/2017.14.1.153","article-title":"Efficacy of teriparatide vs neridronate in adults with osteogenesis imperfecta type I: a prospective randomized international clinical study","volume":"14","author":"Leali","year":"2017","journal-title":"Clin Cases Miner Bone Metab"},{"key":"2025082707593458000_11.1.e226672.18","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00774-011-0284-6","article-title":"The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta","volume":"30","author":"Zhang","year":"2012","journal-title":"J Bone Miner Metab"},{"key":"2025082707593458000_11.1.e226672.19","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/jbm4.10020","article-title":"Primary osteoporosis in young adults: genetic basis and identification of novel variants in causal genes","volume":"2","author":"Collet","year":"2018","journal-title":"JBMR Plus"},{"key":"2025082707593458000_11.1.e226672.20","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/gim.2017.115","article-title":"Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively","volume":"20","author":"Keller","year":"2018","journal-title":"Genet Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/data.bmj.org\/tdm\/10.1136\/bcr-2018-226672","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-226672","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:59:43Z","timestamp":1756306783000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-226672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,12,13]]},"published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1136\/bcr-2018-226672"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-226672","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11]]}}}