文章基本信息

标题：Brittle Bones, Unbreakable Spirit: Osteogenesis Imperfecta: A Case Report
本地全文：下载
作者：Subhra Mandal ; Prabir Mandal ; Panchanan Kundu . 等
期刊名称：International Journal of Anatomy and Research
印刷版ISSN：2321-4287
出版年度：2015
卷号：3
期号：1
页码：878-883
DOI：10.16965/ijar.2015.107
出版社：International Journals of Medical and Health Research
摘要：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.
关键词：Osteogenesis imperfecta (OI); Collagen; Mutations; Bisphosphonates; Intramedullary rod insertions.