Neglected Tibial Fracture with Severe “Saber-Shin” Deformity Revealing Osteogenesis Imperfecta in a 12-Year-Old Girl: A Case Report

Abstract

Background: Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic multisystem disorder of Type I collagen associated with bone fragility, fractures and connective tissue abnormalities, with highly heterogeneous phenotypic features and varying genetic basis. Delayed or neglected fractures in affected individuals may lead to severe deformities and functional impairment. Case Presentation: We report the case of a 12-year-old female admitted for a significant deformity of the right leg following a neglected tibial diaphyseal fracture sustained eight months prior. Clinical examination revealed short stature and characteristic blue sclerae, suggesting an underlying connective tissue disorder. Radiographic evaluation demonstrated a malunited tibial shaft fracture with severe anterior bowing, producing a characteristic “saber shin” deformity. Management required a multidisciplinary approach, including corrective osteotomies with intramedullary nailing and the initiation of bisphosphonate therapy and rehabilitation. Discussion: In the present case, delayed orthopaedic management resulted in a malunited tibial fracture with severe anterior bowing, producing the characteristic “saber shin” deformity. The coexistence of this deformity with systemic features such as blue sclerae and short stature strongly suggested an underlying connective tissue disorder, leading to further investigation and confirmation of osteogenesis imperfecta. This case highlights the importance of early recognition of osteogenesis imperfecta in children presenting with atypical fractures or progressive deformities, as prompt diagnosis and appropriate management are essential to prevent severe skeletal complications and improve functional outcomes. Conclusion: Neglected fractures in children with undiagnosed osteogenesis imperfecta may lead to severe progressive deformities. Early recognition of systemic signs and appropriate orthopaedic management are essential to prevent disabling skeletal complications.