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Clinical features

Authoring team

Clinical features include:

  • presentation:
    • boys at 4 to 7 years
    • girls at 6 to 10 years

  • purpura, bruising

  • associated features include:
    • abnormal pigmentation
    • short stature
    • renal malformations - pelvic kidneys
    • skeletal malformations:
      • radial dysplasia
      • polydactyl
      • syndactyly
      • cliniodactyly
  • onset of anaemia is insidious

  • features are variable but tend to run true within a particular family

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