Supravalvar aortic stenosis syndrome with stenosis of all aortic arch branches.
A 9-year-old girl with the supravalvar aortic stenosis syndrome is presented. In addition to the classical features of the syndrome, namely supravalvar aortic stenosis, peripheral pulmonary stenosis, typical facies, and mental retardation, she was also found to have stenosis at the origin of all aortic arch main branches, a hitherto undescribed feature.
D001024:Aortic Valve Stenosis / Q000150:complications* / Q000000981:diagnostic imaging; D002648:Child; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D011651:Pulmonary Artery / Q000000981:diagnostic imaging; D011666:Pulmonary Valve Stenosis / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome