Aortic regurgitation and pigmentation - unusual features of Noonan syndrome.
A patient with typical features of Noonan's syndrome showed aortic regurgitation and widespread diffuse hyperpigmentation, features not previously associated with this syndrome. Detailed endocrine and dermatological studies failed to delineate the cause of hyperpigmentation. In addition to mild aortic regurgitation, cardiac catheterization revealed mild left ventricular dysfunction, probably due to primary myocardial disease. Other interesting findings included lymphedema and sexual infantilism despite normal testosterone levels.
D000328:Adult; D001022:Aortic Valve Insufficiency / Q000150:complications*; D006328:Cardiac Catheterization; D009202:Cardiomyopathies / Q000150:complications; D006801:Humans; D008209:Lymphedema / Q000150:complications; D008297:Male; D010859:Pigmentation Disorders / Q000150:complications*; D013739:Testosterone / Q000097:blood; D014424:Turner Syndrome / Q000150:complications*
D013739:Testosterone