Beyond Fragile Bones: A Scoping Review of Clinical Presentation, Diagnostic Pathways, and Barriers to Care for Osteogenesis Imperfecta in African Children

Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder characterized primarily by bone fragility and susceptibility to low-trauma fractures. It is caused in most cases by pathogenic variants in COL1A1 or COL1A2, the genes encoding type I procollagen, though pathogenic variants in more than 20 additional genes have now been identified. The condition is clinically heterogeneous, ranging from a mild form with few fractures to a perinatally lethal form, and is classified into at least five major subtypes based on clinical severity and molecular etiology. Beyond skeletal involvement, OI may affect the auditory, cardiovascular, pulmonary, ocular, and dental systems, making it a multisystem disorder with significant individual variability. Most published evidence on OI in children comes from high-income countries where genetic testing, dual-energy X-ray absorptiometry (DEXA), and bisphosphonate therapy are routinely available. In Africa, the disease burden is poorly characterized. The available literature consists predominantly of case reports and small single-center hospital-based series concentrated in a small number of countries. The epidemiology, clinical spectrum, genetic profile, diagnostic pathways, and barriers to care for African children with OI have not been comprehensively examined. To our knowledge, no prior scoping review has specifically addressed OI in African children and adolescents. This review aims to map the available evidence, characterize the clinical and diagnostic landscape, identify gaps in service delivery and care access, and generate priorities for future research, clinical practice, and health policy across the continent.