[120 cases of the Williams and Beuren syndrome].
120 cases of the Williams-Beuren syndrome were collected by 11 cardiological centres in France, to determine the incidence of the various clinical signs and to obtain information on its aetiology, outcome and treatment. The selection criteria for inclusion in the series was typical facies. No particular complications were reported during pregnancy. Boys were a little more affected than girls. The birth weight was low and problems, especially digestive, often occurred in the first months. Cardiac signs were usually detected from the first year, although the exact diagnosis was usually made later on. 3/4 patients had subaortic stenosis, which was severe in 1/3 cases. Involvement of the branches of the aorta was not looked for systematically: the incidence (1/5 cases) found was lower than the true figure. Half the patients also had stenoses on branches of the pulmonary artery, but only rarely were they severe. These vascular malformations often seem to be progressive and, over a 10 year period, half the patients deteriorated. Many extracardiac abnormalities were reported. The most frequently encountered were inguinal and/or umbilical hernia. Surgery on the subvalvular stenosis gave good results in over 80 p. 100 cases; operative mortality was about 10 p. 100. Surgery should be performed before irreversible coronary or myocardial lesions develop. The study of the previous history did not give any new information on the cause of the syndrome, whose association with idiopathic hypercalcaemia of infancy is emphasised once again.
D001018:Aortic Diseases / Q000175:diagnosis; D001024:Aortic Valve Stenosis / Q000175:diagnosis*; D001157:Arterial Occlusive Diseases / Q000175:diagnosis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis*; D013577:Syndrome
Etude de 120 observations de syndrome de Williams et Beuren.