A Case of Noonan Syndrome Presenting with Malignant Hypertension in an Adult / 대한내과학회지

ABSTRACT

Noonan syndrome is an autosomal dominant disorder characterized by dysmorphic facial features, congenital heart defects and short stature. To date, renal artery stenosis has not been associated with Noonan syndrome. We report the case of a 27-year old male who presented with malignant hypertension associated with renal artery stenosis, dysmorphic facial features, pectus excavatum, pulmonary stenosis and hypertrophic cardiomyopathy who was diagnosed with Noonan syndrome.