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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Clinical features include:

  • fine and fair hair
  • joint enlargement and skeletal abnormalities similar to those seen in Marfan's syndrome
  • ocular complications:
    • lens dislocation, classically downward
    • myopia
  • a malar flush
  • livedo reticularis
  • an association with thromboembolic episodes
  • osteoporosis
  • kyphoscoliosis
  • mental retardation - variable - this may be preventable by early diagnosis and dietary treatment

Patients often present with myopia and lens dislocation.

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