Type of Article : Case Report
Year: 2015 | Volume 3 | Issue 1 | Page No. 878-883
Date of Publication: 28-02-2015
BRITTLE BONES, UNBREAKABLE SPIRIT: OSTEOGENESIS IMPERFECTA: A CASE REPORT
Subhra Mandal *1, Prabir Mandal 2, Panchanan Kundu 3.
*1 Associate Professor, Dept. of Anatomy, Medical College Kolkata, West Bengal, India.
2 Post Graduate Resident in DNB (PMR), S.N.P. Hospital , Kolkata , West Bengal, India.
Address: Dr. Subhra Mandal, Associate Professor, Dept. of Anatomy, Medical College Kolkata, West Bengal , India. Contact No.: +919477458100
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.
KEY WORDS: Osteogenesis imperfecta (OI), Collagen, Mutations, Bisphosphonates, Intramedullary rod insertions.
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Subhra Mandal, Prabir Mandal, Panchanan Kundu. BRITTLE BONES, UNBREAKABLE SPIRIT: OSTEOGENESIS IMPERFECTA: A CASE REPORT. Int J Anat Res 2015;3(1):878-883. DOI: 10.16965/ijar.2015.107