Noonan Syndrome: A Case Report

Authors

  • Fahad Khan Dow University of Health Sciences image/svg+xml
  • Sumaita Waqar Dow University of Health Sciences image/svg+xml
  • Noor Ul Ain Jamal Cardiology Ward, Civil Hospital Karachi (Dow University of Health Sciences) ,
  • Asra Saleem Civil Hospital Karachi ( Dow University of Health Sciences ) ,

DOI:

https://doi.org/10.30442/ahr.0401-1-11

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.

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Published

2018-06-17

Issue

Vol. 4 No. 1 (2018)

Section

Case Report

License

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