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Clinical features

Authoring team

Clinical features include:

  • short stature with abnormal body proportions
  • cubitus valgus
  • webbed neck

Features different from Turner's syndrome include the characteristic facies:

  • broad forehead
  • ptosis
  • hypertelorism
  • epicanthic folds
  • down slanting eyes
  • low-set ears
  • flat nasal bridge
  • pectus carinatum & kyphoscoliosis
  • congenital heart disease on the right side (compare to the left sided lesions of Turner's syndrome)
  • cryptorchidism

Reference

  1. Limal JM, Parfait B, Cabrol S, et al. Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab. 2006 Jan;91(1):300-6.

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