27th February 2025

Osteogenesis imperfecta

Genetic abnormalities affecting (mostly type I) collagen production result in this connective tissue disorder, characterised clinically by blue-grey sclera, restricted growth, and osteopenic/osteoporotic brittle bones, with subsequent deformity and fragility fractures. The heterogeneity of possible genetic defects allows for a spectrum of severities and, therefore, presentations. The most severe forms include multiple fractures in childhood, dental disease, valvular regurgitation, hearing loss, and lung disease secondary to kyphoscoliosis and chest wall deformities with recurrent pneumonias (the leading cause of death in osteogenesis imperfecta).