Osteogenesis imperfecta--clinical and molecular diversity.

  title={Osteogenesis imperfecta--clinical and molecular diversity.},
  author={Peter J. Roughley and Frank Rauch and Francis H Glorieux},
  journal={European cells & materials},
  pages={41-7; discussion 47}
Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in clinical presentation and bone architecture. Mutation in one of the type I collagen genes is commonly associated with osteogenesis… CONTINUE READING