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Table 1 Patient criteria according to Nancy and Berry 1992 [2]

From: Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Clinical criteria 1 2 3 4 7 8 9
Major criteria Post natal growth failure + + + + + + +
  Progressive neurological dysfunction + + + + + + +
Minor criteria Cutaneous photosensitivity + + + + - - -
  Peripheral neuropathy - ND ND ND + + ND
  Pigmentary retinopathy and/or cataract + + _ - + + +
  SNHL ND ? ND ND + + ND
  Dental caries + ? + + + + +
  Characteristic physical appearance + + + + + + +
  Family history + + + + + + +
  1. Patients 5 and 6 were excluded as the criteria do not apply to them (CS type II). ND: not done, SNHL: sensorineural hearing loss.