Osteogenesis imperfecta

Defective ground substance and laying down of collagen, therefore not mineralized


  • AD – Defect in biosynthesis of collagen 1
  • Mutations in structural gene for collagen proteins – ie. COL1A2 – same mutation causes dentinogenesis imperfecta


  • Bone fragility (thin bones without cortex)
  • Hearing loss
  • Dentinogenesis imperfecta
  • Blue sclera
  • Opalescent dentine
  • Spine deformities
  • Joint hyperextensibility
Osteogenesis imperfecta bone fragility


Classification of osteogenesis imperfecta


  • Histology:
    • Decreased mass of cortical and cancellous bone
    • Bone architecture immature throughout life since woven bone does not mature to lamellar bone
  • DNA based sequencing test
  • X-ray


  • Bisphosphonates
  • Extensive restoration with full crown coverage
  • ENT – correct hearing loss
  • Physiotherapy/ surgery – kyphoscoliosis
  • Intramedullary rodding – orthopedic management

3 thoughts on “Osteogenesis imperfecta

Comments are closed.