Case Report: Pediatric osteogenesis imperfecta type 1: a pedigree report and literature review

Abstract

Osteogenesis imperfecta (OI), also known as “brittle bone disease,” is a congenital disorder typically inherited in an autosomal dominant manner. It is a rare genetic disease caused by abnormal mesodermal development leading to defective collagen formation due to variants in various genes. OI is a hereditary connective tissue disorder characterized by increased bone fragility and recurrent fractures. It can also involve the eyes, ears, teeth, and skin, manifesting as bone deformities, blue sclerae, short stature, dentinogenesis imperfecta, hearing impairment, and laxity of skin, tendons, and ligaments. Its pathogenesis is closely linked to variants in collagen-encoding genes or related regulatory genes. This article reports a case of a 13-year-old male with OI, whose chief complaint was “congenital blue sclerae and recurrent fractures from early childhood”. Based on his family history, clinical examination, and genetic testing results, a definitive diagnosis of OI type 1 was established. This paper further explores the clinical characteristics, diagnostic key points, treatment progress, gene variant correlations, and management considerations of OI, aiming to provide more comprehensive references for clinical diagnosis and treatment.