Delayed Diagnosis of Suspected Osteogenesis Imperfecta in a Young Adult with Recurrent Low-Energy Fractures: A Case Report

Abstract

Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder characterized by bone fragility and heterogeneous clinical presentation. Mild phenotypes may remain undiagnosed for prolonged periods, particularly when clinical manifestations are subtle or overlooked. We report the case of a 19-year-old man with a history of recurrent low-energy fractures since the age of eight. The patient sustained multiple fractures involving long bones, associated with progressive deformities of the lower extremities. Notably, no etiological workup had been performed during childhood. On admission, physical examination revealed blue sclerae. A positive family history was identified, with recurrent fractures reported in two maternal uncles. Based on the clinical presentation and family history, a diagnosis of type I osteogenesis imperfecta was established. This case underscores the critical importance of early recognition of suggestive clinical features in children presenting with recurrent fractures. Improved clinician awareness may help reduce diagnostic delays, prevent complications, and enable timely genetic counseling and appropriate multidisciplinary management.