Osteogenesis Imperfecta MedPix 1

Description: osteogenesis imperfecta (OI) is an inherited disorder of connective tissue (specifically, faulty collagen formation). Gene probes have elucidated mutations in genes that regulate collagen formation, resulting in defective conversion of reticulum fibers to adult collagen fibers. There are four clinical criteria — blue sclerae, fragile bones, otosclerosis, and poor dentition — the presence of two confirms the diagnosis.