osteogenesis imperfecta

Clinical Overview Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders characterized by bone fragility and varying degrees of skeletal, ocular, and auditory manifestations. While classically defined by defects in Type I collagen synthesis, the clinical spectrum is broad, ranging from asymptomatic phenotypes to perinatal lethality. It is one of the most common…