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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The main features are:

  • multiple fractures
  • lax joints
  • thin and atrophic skin - heals with wide hypertrophic scars

Other clinical features include:

  • scoliosis
  • blue sclerae, which tend to develop in adult life
  • progressive deafness due to otosclerosis

The presence of dentinogenesis imperfecta determines the subtype:

  • absence defines subtype A
  • presence defines subtype B

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