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Noonan Syndrome

This is an autosomal dominantQ syndrome phenotypically similar to Turner SyndromeQ but with normal Karyotype. Q


Clinical Features

  • Short Stature
  • Webbing of neck
  • Pectus carinatum or pectus excavatum
  • Cubitus valgus
  • Characteristic Facies: Hypertelorism, downward slanted palpebral fissure, Microganthia Ptosis and ear abnormalities.
  • Congenital heart defect   - Dysplastic pulmonary valve stenosis
    -    Pulmonary artery stenosis
    -    Atrial septal defect
    -    Hypertrophic cardiomyopathy 

Moderate mental retardation occur in 25%Q


Haematological abnormalities including low clotting factor XI, XII and leukemia have been reported.

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