Brittle Bones, Unbreakable Spirit: Osteogenesis Imperfecta: A Case Report.
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Date
2015-01
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Abstract
Osteogenesis imperfecta (OI, Fragilitis Ossium or Brittle bone disease) is a group of rare inherited disorders
with a broad spectrum of clinical and genetic variability. It is characterized by fragile bones that are prone to
fracture often from mild trauma or with no apparent cause. People with OI are born with defective connective
tissue or without the ability to make it, usually because of a deficiency of Type1 collagen. Incidence of OI is
estimated to be one per twenty thousand live births. Eight types of OI can be distinguished. Most cases are
caused by mutations in the COL1A1 and COL1A2 genes. We have reported a special case of OI, probably
belonging to Type III group. The subject visited the PMR (Physical Medicine & Rehabilitation) OPD of Bankura
Sammilani medical college (BSMC), Bankura ,West Bengal, India.. The details of etiology, diagnosis, genetic
causes and treatment will be discussed in the study. Diagnosis of OI is based on clinical features and may be
confirmed by collagen or DNA testing. There is no cure for OI. Our management is aimed at increasing over all
bone strength to prevent fracture and maintain mobility. Nevertheless, life style modifications by adaptive
equipments, oral drugs (Bisphosphonates) and Intramedullary rod insertions, provide a significant degree of
autonomy to OI patients.
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Keywords
Osteogenesis imperfecta (OI), Collagen, Mutations, Bisphosphonates, Intramedullary rod insertions
Citation
Mandal Subhra, Mandal Prabir, Kundu Panchanan. Brittle Bones, Unbreakable Spirit: Osteogenesis Imperfecta: A Case Report. International Journal of Anatomy and Research. 2015 Jan-Mar; 3(1): 878-883.