Osteogenesis Imperfecta
(see also: Pyknodyostosis) 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 … Read more