Osteogenesis imperfecta

external

• Synonyms

  • OI
  • Brittle bone disease
  • Lobstein syndrome

• Causes

  • COL1A1 gene mutation

• Effects

  • Recurrent fractures
  • Bone deformity
  • Pathological fracture
  • Blue sclera
  • Conductive deafness
  • Triangular face
  • Joint hypermobility
  • Posterior scalloping
  • Congenital aortic valve malformation
  • Aortic regurgitation
  • Hip fracture
  • Looser's zone

• Parents

  • Genetic collagen disease
  • Autosomal dominant disorder
  • Congenital skeletal dysplasia

• Treatments

  • Bisphosphonate

• Description

  • "1:30
  • 000 births. Bone collagen I defect"