Noonan Syndrome: A Case Report

  • Fahad Khan Dow University of Health Sciences
  • Sumaita Waqar Dow University of Health Sciences
  • Noor Ul Ain Jamal Cardiology Ward, Civil Hospital Karachi (Dow University of Health Sciences)
  • Asra Saleem Civil Hospital Karachi ( Dow University of Health Sciences )
Keywords: Hypertrophic cardiomyopathy, Leopard syndrome, Noonan syndrome, Pulmonary stenosis, Ptosis

Abstract

The clinical findings and treatment options of cardiovascular abnormalities in a 20-year old male patient with Noonan syndrome are described with literature review. The classical clinical features of Noonan syndrome which were identified included short stature, abnormalities of ear and eye, low posterior hair line, cubitus valgus and webbed neck. The major cardiovascular abnormalities included pulmonary valvular stenosis and hypertrophic cardiomyopathy. A comparison with Leopard syndrome is made and the overlapping features between the two rare genetic disorders are discussed.

References

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Published
2018-06-17
Section
Case Report