Osteogenesis Imperfecta: Update on presentation and management

  title={Osteogenesis Imperfecta: Update on presentation and management},
  author={Moira S. Cheung and Francis H Glorieux},
  journal={Reviews in Endocrine and Metabolic Disorders},
Osteogenesis Imperfecta (OI) is a rare heritable condition characterized by bone fragility and reduced bone mass. Traditionally OI was classified into OI types I to IV and thought to be only due to a defect in the collagen gene, however through the discovery of the new types of OI–V to VII, breakthroughs have been made in understanding the pathophysiology of autosomal recessive OI and new genetic mutations, such as in CRTAP and P3H1 genes. OI can present at any age and be difficult to diagnose… CONTINUE READING


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