clinical features

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Features include:

  • blueberry skin lesions in the neonate - purpuric, in 25% - pinprick lesions
  • deafness in about 80%
  • heart defect or patent ductus arteriosus in about 60%
  • mental retardation in about 55%
  • retinopathy, described as salt and pepper, in about 50%
  • cataract in about 30%
  • glaucoma
  • microencephaly
  • hepatosplenomegaly, retarded growth, thrombocytopenia
  • osteitis

Last reviewed 01/2018

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