Osteogenesis Imperfecta Wheeless

Description: Discussion: - disease characterized by failure of maturation and organization of collagen fibers; - defect in collagen (procollagen to type I collagen sequence and abnormal cross linking) leading to decreased collagen secretion, bone fragility; - there may be an inability to form normal bone due to a defect in osteoblastic function; - with the formation of abnormal bone, there is a secondary, though not precisely understood, increase in resorption of bone with a secondary increase in bone turnover; - osteoid mineralization, osteoclastic activity, and intramembranous bone formation are not affected; - classification of osteogenesis imperfecta: - note that there is a wide variety in the OI phenotype, but all share in osseous fragility and propensity for fracture; - diff dx: - juvenile osteoporosis - rickets - battered child syndrome - leukemia; - abundant frx callus may be mistaken for osteosarcoma