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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The most typical features are:

  • hypoplasia of one limb
  • cicatricial lesions with a dermatomal distribution

Other features include:

  • neurological abnormalities:
    • hydrocephalus
    • microcephaly
    • Horner's syndrome
  • eye abnormalities:
    • cataracts
    • chorioretinitis
    • microphthalmia
  • growth retardation
  • gastrointestinal structural defects
  • genitourinary structural defects

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