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Clinical features

Authoring team

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

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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