Brittle Bone Brothers: Osteogenesis Imperfecta Conventional Serial Case

Marsha Ruthy Darmawan, Elysanti Dwi Maharani

Abstract


Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease. Here we report three cases of OI type IV in adults. Skeletal conventional X-rays were performed to all patients and all of them has similar results such as bowing deformities of long bones, old union and some non-union fractures with extreme angulation and severe osteoporosis. OI are classified based on skeletal structure, sclera colorization, dentinogenesis, and functional metabolic defect genetically. OI type I and IV can live until adults; also, the same type of OI can be found in siblings. Skeletal conventional X-rays can solely make the diagnosis.

Keywords


Osteogenesis imperfect; conventional X-ray; osteoporosis; bone deformity; Brittle Bone

Full Text:

PDF

References


Bishop, N. J., & Walsh, J. S. (2014). Osteogenesis imperfecta in adults. The Journal of clinical investigation, 124(2), 476–477. https://doi.org/10.1172/JCI74230

Blom, A., Warwick, D., & Whitehouse, M. (Eds.). (2017). Apley & Solomon's System of Orthopaedics and Trauma (10th ed.). CRC Press. https://doi.org/10.4324/9781315118192

Forlino, A., & Marini, J. C. (2016). Osteogenesis imperfecta. Lancet (London, England), 387(10028), 1657–1671. https://doi.org/10.1016/S0140-6736(15)00728-X

Hoyer-Kuhn, H., Netzer, C. & Semler, O. (2015). Osteogenesis imperfecta: pathophysiology and treatment. Wien Med Wochenschr 165, 278–284. https://doi.org/10.1007/s10354-015-0361-x

Scheres, L., van Dijk, F. S., Harsevoort, A. J., van Dijk, A., Dommisse, A. M., Janus, G., & Franken, A. (2018). Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements. Bone reports, 8, 168–172. https://doi.org/10.1016/j.bonr.2018.04.009

Van Dijk, F. S., & Sillence, D. O. (2014). Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. American journal of medical genetics. Part A, 164A(6), 1470–1481. https://doi.org/10.1002/ajmg.a.36545




DOI: https://doi.org/10.14421/biomedich.2021.101.23-25

Refbacks

  • There are currently no refbacks.


Bookmark and Share


Copyright (c) 2021 Marsha Ruthy Darmawan, Elysanti Dwi Martadiani



Biology, Medicine, & Natural Product Chemistry
ISSN 2089-6514 (paper) - ISSN 2540-9328 (online)
Published by Sunan Kalijaga State Islamic University & Society for Indonesian Biodiversity.

CC BY NC
This work is licensed under a CC BY-NC