Clinical Characteristics

Patients with KDELR2 mutations have been clinically diagnosed with progressively deforming Osteogenesis Imperfecta (or OI type 2B/3) according to the Sillence classification.

  • Multiple bone fractures
  • Short stature
  • Skeletal deformities (bowing and shortening of upper and lower extremities, scoliosis, chest deformity)
  • Joint hypermobility
  • (Blue sclera, crumbling teeth and cardiac anomalies are also reported)