GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 6

Summary

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010). [from OMIM]

Associated genes

Clinical features

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  • Elevated alkaline phosphatase
  • Coxa vara
  • Short stature
  • Protrusio acetabuli
  • Blue sclerae
  • Biconcave vertebral bodies
  • Osteopenia
  • Increased susceptibility to fractures
  • Dentinogenesis imperfecta
  • Abnormality of the skin
  • Joint laxity
  • Scoliosis
  • Vertebral compression fractures
  • Vertebral wedging
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