The Noonan syndrome.
Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pterygium colli, pectus excavatum-carinatum and mild physical and mental retardation were also common features. Pulmonary stenosis and patent ductus arteriosus were the most frequent cardiac anomalies. Wide QRS, left axis deviation, giant Q waves and a negative pattern in V6 were useful electrocardiographic signs. We speculate that the Noonan syndrome could be considered as a branchial arch development syndrome.
D001763:Blepharoptosis / Q000175:diagnosis / Q000196:embryology; D002648:Child; D004562:Electrocardiography; D005146:Facial Asymmetry / Q000175:diagnosis / Q000196:embryology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis / Q000196:embryology