{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:29:24Z","timestamp":1790231364396,"version":"4.1.0"},"reference-count":31,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Fractures in patients with osteogenesis imperfecta (OI) are caused by a decreased strength of bone due to a decreased quality and quantity of bone matrix and architecture. Mutations in the collagen type 1 encoding genes cause the altered formation of collagen type I, one of the principal building blocks of bone tissue. Due to the complexity of the disease and the high variation of the clinical problems between patients, treatment for these patients should be individually tailored. In general, short immobilization periods with flexible casting material, use of intramedullary implants, and simultaneous deformity correction are preferred. Multidisciplinary care with a broad view of the support needed for the patient and his\/her living environment is necessary for the optimal rehabilitation of these patients. Increasing bone strength with exercise, medication, and sometimes alignment surgery is generally indicated to prevent fractures.<\/jats:p>","DOI":"10.3390\/children9020268","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T20:26:41Z","timestamp":1645043201000},"page":"268","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention"],"prefix":"10.3390","volume":"9","author":[{"given":"Wouter","family":"Nijhuis","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein","family":"Verhoef","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Physical Therapy Science & Sports, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8336-9070","authenticated-orcid":false,"given":"Christiaan","family":"van Bergen","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Amphia Hospital, 4818 CK Breda, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harrie","family":"Weinans","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands"},{"name":"Department of Biomechanical Engineering, Delft University of Technology, 2600 AA Delft, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Sakkers","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Botor, M., Fus-Kujawa, A., and Uroczynska, M. (2021). Osteogenesis Imperfecta: Current and Prospective Therapies. Biomolecules, 11.","DOI":"10.3390\/biom11101493"},{"key":"ref_2","first-page":"1470","article-title":"Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment","volume":"164A","author":"Sillence","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.3109\/07853899309164153","article-title":"Collagens and their abnormalities in a wide spectrum of diseases","volume":"25","author":"Kivirikko","year":"1993","journal-title":"Annu. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1146\/annurev.me.43.020192.001413","article-title":"Osteogenesis imperfecta","volume":"43","author":"Byers","year":"1992","journal-title":"Annu. Rev. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"15349","DOI":"10.1016\/S0021-9258(18)55398-9","article-title":"Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth","volume":"265","author":"Prockop","year":"1990","journal-title":"J. Biol. Chem."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"5597","DOI":"10.1073\/pnas.0631609100","article-title":"Materials become insensitive to flaws at nanoscale: Lessons from nature","volume":"100","author":"Gao","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1737","DOI":"10.1016\/S0006-3495(00)76426-5","article-title":"Mineralized collagen fibrils: A mechanical model with a staggered arrangement of mineral particles","volume":"79","author":"Fratzl","year":"2000","journal-title":"Biophys. J."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1302\/1863-2548.13.180190","article-title":"Current concepts in osteogenesis imperfecta: Bone structure, biomechanics and medical management","volume":"1","author":"Nijhuis","year":"2019","journal-title":"J. Child Orthop."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1007\/s002239900571","article-title":"The microscopic structure of bone in normal children and patients with osteogenesis imperfecta: A survey using backscattered electron imaging","volume":"64","author":"Jones","year":"1999","journal-title":"Calcif. 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Int."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s00223-001-1055-5","article-title":"The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta","volume":"72","author":"Shapiro","year":"2003","journal-title":"Calcif. Tissue Int."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1172\/JCI0215952","article-title":"The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta","volume":"110","author":"Rauch","year":"2002","journal-title":"J. Clin. Investig."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00198-012-2188-2","article-title":"Trabecular bone score improves fracture risk prediction in non-osteoporotic women: The OFELY study","volume":"24","author":"Boutroy","year":"2013","journal-title":"Osteoporos. Int."},{"key":"ref_17","first-page":"e23475","article-title":"Vitamin D supplementation for improving bone mineral density in children","volume":"10","author":"Winzenberg","year":"2010","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1097\/BPO.0b013e318281264f","article-title":"Risk factors for vitamin D deficiency in children with osteogenesis imperfecta","volume":"33","author":"Wilsford","year":"2013","journal-title":"J. Pediatr. 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Obstet. Gynecol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1002\/jbmr.3143","article-title":"BPS804 anti-sclerostin antibody in adults with moderate osteogenesis imperfecta: Results of a randomized phase 2a trial","volume":"32","author":"Glorieux","year":"2017","journal-title":"J. Bone Miner. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.bone.2015.02.010","article-title":"Bone and muscle: Interactions beyond mechanical","volume":"80","author":"Brotto","year":"2015","journal-title":"Bone"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":".425","DOI":"10.1007\/s11914-017-0396-6","article-title":"Muscle-bone interactions in pediatric bone diseases","volume":"15","author":"Veilleux","year":"2017","journal-title":"Curr. Osteoporos. Rep."},{"key":"ref_26","first-page":"16140","article-title":"A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta","volume":"2021","author":"Nijhuis","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1097\/BPO.0000000000000824","article-title":"Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta","volume":"38","author":"Azzam","year":"2018","journal-title":"J. Pediatr. Orthop."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1080\/17453674.2021.1941628","article-title":"A roadmap to surgery in osteogenesis imperfecta: Results of an international collaboration of patient organizations and interdisciplinary care teams","volume":"92","author":"Sakkers","year":"2021","journal-title":"Acta Orthop."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1186\/s13023-018-0905-4","article-title":"Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta","volume":"13","author":"Mueller","year":"2018","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.bone.2015.05.019","article-title":"The functional muscle-bone unit in patients with osteogenesis imperfecta type I","volume":"79","author":"Veilleux","year":"2015","journal-title":"Bone"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1007\/s11136-016-1247-0","article-title":"The psychosocial experience of individuals living with osteogenesis imperfecta: A mixed-methods systematic review","volume":"25","author":"Tsimicalis","year":"2016","journal-title":"Qual. 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