Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood

Van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A(6):1470–1481. https://doi.org/10.1002/ajmg.a.36545

Article  PubMed  Google Scholar 

Folkestad L, Hald JD, Tosi L, Raggio C, Semler O, Langdahl B, Ralston SH (2024) Osteogenesis imperfecta is more than a pediatric disorder—there is a need for adult care evidence to guide clinicians. J Clin Endocrinol Metab 109(2):e866–e867. https://doi.org/10.1210/clinem/dgad423

Article  PubMed  Google Scholar 

Dziechciaż M, Filip R (2014) Biological psychological and social determinants of old age: bio-psycho-social aspects of human aging. Ann Agric Environ Med 21(4):835–838. https://doi.org/10.5604/12321966.1129943

Article  PubMed  Google Scholar 

Campisi J, Kapahi P, Lithgow GJ, Melov S, Newman JC, Verdin E (2019) From discoveries in ageing research to therapeutics for healthy ageing. Nature 571(7764):183–192. https://doi.org/10.1038/s41586-019-1365-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khosla S, Farr JN, Kirkland JL (2018) Inhibiting cellular senescence: a new therapeutic paradigm for age-related osteoporosis. J Clin Endocrinol Metab 103(4):1282–1290. https://doi.org/10.1210/jc.2017-02694

Article  PubMed  PubMed Central  Google Scholar 

Ashournia H, Johansen FT, Folkestad L, Diederichsen AC, Brixen K (2015) Heart disease in patients with osteogenesis imperfecta: a systematic review. Int J Cardiol 1(196):149–157. https://doi.org/10.1016/j.ijcard.2015.06.001

Article  Google Scholar 

Folkestad L (2018) Mortality and morbidity in patients with osteogenesis imperfecta in Denmark. Dan Med J 65(4):B5454

PubMed  Google Scholar 

Zhang Y, Pignolo RJ, Bram RJ (2022) accelerated aging in cyclophilin b-deficient mice downstream of p21-Cip1/Waf1. JBMR Plus 6(10):e10674. https://doi.org/10.1002/jbm4.10674

Article  CAS  PubMed  PubMed Central  Google Scholar 

Folkestad L, Hald JD, Ersbøll AK, Gram J, Hermann AP, Langdahl B, Abrahamsen B, Brixen K (2017) Fracture rates and fracture sites in patients with osteogenesis imperfecta: a Nationwide Register-based cohort study. J Bone Miner Res 32(1):125–134. https://doi.org/10.1002/jbmr.2920

Article  PubMed  Google Scholar 

Manolopoulos KN, West A, Gittoes N (2013) The paradox of prevention–bilateral atypical subtrochanteric fractures due to bisphosphonates in osteogenesis imperfecta. J Clin Endocrinol Metab 98(3):871–872. https://doi.org/10.1210/jc.2012-4195

Article  CAS  PubMed  Google Scholar 

Meier RP, Ing Lorenzini K, Uebelhart B, Stern R, Peter RE, Rizzoli R (2012) Atypical femoral fracture following bisphosphonate treatment in a woman with osteogenesis imperfect—a case report. Acta Orthop 83(5):548–550. https://doi.org/10.3109/17453674.2012.729183

Article  PubMed  PubMed Central  Google Scholar 

Etxebarria-Foronda I, Carpintero P (2015) An atypical fracture in male patient with osteogenesis imperfecta. Clin Cases Miner Bone Metab 12(3):278–81. https://doi.org/10.11138/ccmbm/2015.12.3.278

Article  PubMed  PubMed Central  Google Scholar 

Hald JD, Evangelou E, Langdahl BL, Ralston SH (2015) Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res 30(5):929–933. https://doi.org/10.1002/jbmr.2410

Article  CAS  PubMed  Google Scholar 

Trejo P, Fassier F, Glorieux FH, Rauch F (2017) Diaphyseal femur fractures in osteogenesis imperfecta: characteristics and relationship with bisphosphonate treatment. J Bone Miner Res 32(5):1034–1039. https://doi.org/10.1002/jbmr.3071

Article  CAS  PubMed  Google Scholar 

Andersen JD, Bünger MH, Rahbek O, Hald JD, Harsløf T, Langdahl BL (2019) Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series. Osteoporos Int 30(2):513–517. https://doi.org/10.1007/s00198-018-4769-1

Article  CAS  PubMed  Google Scholar 

de Lima MV, de Lima FV, Akkari M, Resende VR, Santili C (2015) Roentgenographic evaluation of the spine in patients with osteogenesis imperfecta. Medicine 94(47):e1841. https://doi.org/10.1097/MD.0000000000001841

Article  PubMed  PubMed Central  Google Scholar 

Liu G, Chen J, Zhou Y, Zuo Y, Liu S, Chen W, Wu Z, Wu N (2017) The genetic implication of scoliosis in osteogenesis imperfecta: a review. J Spine Surg 3(4):666–678. https://doi.org/10.21037/jss.2017.10.01

Article  PubMed  PubMed Central  Google Scholar 

Persiani P, Graci J, de Cristo C, Noia G, Villani C, Celli M (2017) Association between spondylolisthesis and L5 fracture in patients with osteogenesis imperfecta. Eur Spine J 26(12):3106–3111. https://doi.org/10.1007/s00586-014-3737-5

Article  PubMed  Google Scholar 

Ferreira DG, Spranger A, Almeida P, Presa D, Fernandes I, Soares do Brito J (2021) Telangiectatic osteosarcoma arising in osteogenesis imperfecta. Acta Reumatol Portuguesa 46(2):171–176

Google Scholar 

Takahashi S, Okada K, Nagasawa H, Shimada Y, Sakamoto H, Itoi E (2004) Osteosarcoma occurring in osteogenesis imperfecta. Virchows Arch 444(5):454–458. https://doi.org/10.1007/s00428-004-0985-5

Article  PubMed  Google Scholar 

Wekre LL 2012 A populations-based study of osteogenesis imperfecta in adults—clinical and social aspects. Doctoral thesis, Faculty of Medicine, University of Oslo

Danyukova T, Alimy AR, Velho RV, Yorgan TA, Di Lorenzo G, von Kroge S, Tidow H, Wiegert JS, Hermans-Borgmeyer I, Schinke T, Rolvien T, Pohl S (2023) Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage. Bone 177:116927. https://doi.org/10.1016/j.bone.2023.116927

Article  CAS  PubMed  Google Scholar 

Blair-Levy JM, Watts CE, Fiorentino NM, Dimitriadis EK, Marini JC, Lipsky PE (2008) A type I collagen defect leads to rapidly progressive osteoarthritis in a mouse model. Arthr Rheum 58(4):1096–1106. https://doi.org/10.1002/art.23277

Article  CAS  Google Scholar 

Barlow S, Dove L, Jaggi A, Keen R, Bubbear J (2022) The prevalence of musculoskeletal pain and therapy needs in adults with osteogenesis imperfecta (OI) a cross-sectional analysis. BMC Musculoskelet Disord 23(1):485. https://doi.org/10.1186/s12891-022-05433-3

Article  PubMed  PubMed Central  Google Scholar 

Andersen JD, Folkestad L, Hald JD, Harsløf T, Langdahl BL, Abrahamsen B (2022) Osteoarthritis in osteogenesis imperfecta: a nationwide register-based cohort study. Bone 154:116222. https://doi.org/10.1016/j.bone.2021.116222

Article  CAS  PubMed  Google Scholar 

Gremminger VL, Phillips CL (2021) Impact of intrinsic muscle weakness on muscle-bone crosstalk in osteogenesis imperfecta. Int J Mol Sci 22(9):4963. https://doi.org/10.3390/ijms22094963

Article  CAS  PubMed  PubMed Central  Google Scholar 

Veilleux LN, Lemay M, Pouliot-Laforte A, Cheung MS, Glorieux FH, Rauch F (2014) Muscle anatomy and dynamic muscle function in osteogenesis imperfecta type I. J Clin Endocrinol Metab 99(2):E356-62. https://doi.org/10.1210/jc.2013-3209

Article  CAS  PubMed  Google Scholar 

Ahn J, Carter E, Raggio CL, Green DW (2019) Acetabular protrusio in patients with osteogenesis imperfecta: risk factors and progression. J Pediatr Orthop 39(10):e750–e754. https://doi.org/10.1097/BPO.0000000000001051

Article  PubMed  Google Scholar 

Trehan SK, Morakis E, Raggio CL, Twomey KD, Green DW (2015) Acetabular protrusio and proximal femur fractures in patients with osteogenesis imperfecta. J Pediatr Orthop 35(6):645–649. https://doi.org/10.1097/BPO.0000000000000343

Article  PubMed  Google Scholar 

Folkestad L, Hald JD, Gram J, Langdahl BL, Hermann AP, Diederichsen AC, Abrahamsen B, Brixen K (2016) Cardiovascular disease in patients with osteogenesis imperfect: a nationwide, register-based cohort study. Int J Cardiol 15(225):250–257. https://doi.org/10.1016/j.ijcard.2016.09.107

Article  Google Scholar 

Weis SM, Emery JL, Becker KD, McBride DJ Jr, Omens JH, McCulloch AD (2000) Myocardial mechanics and collagen structure in the osteogenesis imperfecta murine (OIM). Circ Res 87(8):663–669. https://doi.org/10.1161/01.res.87.8.663

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