Recent developments in osteogenesis imperfecta [version 1; referees: 3 approved]

Abstract

Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some associated with type I collagen processing) have now been identified. The genetics of OI and advances in our understanding of the biomechanical properties of OI bone are reviewed in this article. Treatment includes physiotherapy, fall prevention, and sometimes orthopedic procedures. In this brief review, we will also discuss current understanding of pharmacologic therapies for treatment of OI.

Keywords

• Bone Biology, Osteoporosis & Other Diseases of Bone
• Cell Signaling
• Endocrine & Metabolic Pharmacology
• Etiology, Pathogenesis & Animal Models of Rheumatic Disease
• Macromolecular Chemistry
• Medical Genetics
• Menopause & Post-Reproductive Women's Health
• Musculoskeletal Pharmacology
• Non-hematopoietic Stem Cells
• Orthopedics (incl. Sports Injuries)
• Pediatric Hematology
• Protein Chemistry & Proteomics