Osteogenesis imperfecta in children. Clinical case analysis and literature review

Abstract

INTRODUCTION: Osteogenesis imperfecta (fragile bone disease) is a genetic disease characterized by bone fragility and risk of fracture. Osteogenesis imperfecta is usually caused by changes in type I collagen. It is a genetically and clinically heterogeneous disease with an incidence of approximately 1 in 10,000 to 1 in 20,000. AIMS AND OBJECTIVES The aim. The purpose of this article is to provide a literature review on the fragile bone disease of children - osteogenesis imperfecta and to present a clinical case of a 15-year-old patient with osteogenesis imperfecta (OI). Objectives. 1. To find out the clinical features of the disease osteogenesis imperfecta. 2. To evaluate the goals of treatment of osteogenesis imperfecta disease. 3. To find out the clinical case. MATERIALS AND METHODS Scientific literature was reviewed using the PubMed database. Publications written in English and corresponding to the purpose of the article were selected. RESULTS Osteogenesis imperfecta is a rare bone disease. It is important to notice the characteristic clinical signs and prescribe the necessary tests and treatment in time. Our patient has undergone multiple traumatic orthopedic surgeries for bone fractures. This genetic disease is incurable, so the patient must be careful of falls or actions that can cause bone fractures. CONCLUSIONS Osteogenesis imperfecta can be diagnosed with X-rays, bone density tests, and genetic testing. The late form of osteogenesis imperfecta is more favorable, although it limits the quality of life. The goals of treatment for osteogenesis imperfecta are to increase bone strength, reduce fracture risk, reduce pain, increase mobility and functional independence, and prevent long-term complications.