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Clinical features

Authoring team

Features include:

  • low birthweight
  • short stature
  • frontal bossing and a triangular face - pixie-like features
  • a relative macroencephaly
  • body asymmetry - hemihypertrophy in 50%
  • small hands and short 5th finger in 75%
  • mental retardation in 20%
  • cryptorchidism
  • primary gonadal failure
  • hypospadias

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