[Beuren-Williams syndrome: study of 20 cases].
Beuren-Williams syndrome is characterized by elfin face, mental retardation in addition to cardiovascular lesions, which consist in supravalvular aortic stenosis and peripheral pulmonary stenosis. Twenty patients having this syndrome are reported with special emphasis on their cardiovascular abnormalities.
D001018:Aortic Diseases / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D003251:Constriction, Pathologic / Q000151:congenital; D005145:Face / Q000002:abnormalities*; D005149:Facial Expression; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010641:Phenotype; D011651:Pulmonary Artery / Q000002:abnormalities*; D013577:Syndrome
Síndrome de Beuren-Williams: estudio de 20 casos.