[Williams and Beuren's syndrome with hypertension and associated renal abnormalities (author's transl)].
The authors presented a case of the Williams and Beuren's syndrome, special by the existence of aorta coarctation, high blood pressure, nephrotic syndrome and renal dysplasia. The Williams-Beuren's syndrome is characterised by the association of facial anomalies, mental retardation and supra-valvular aortic stenosis. The case presented in this study demonstrates: -- the symptomatic diversity of the Williams and Beuren's syndrome; -- and the relationship of this syndrome and severe idiopathic hypercalcemia of the infant. The etiopathogenesis is also discussed.
D000015:Abnormalities, Multiple; D001017:Aortic Coarctation / Q000150:complications*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D006801:Humans; D006973:Hypertension / Q000150:complications*; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009404:Nephrotic Syndrome / Q000150:complications; D013577:Syndrome
Syndrome de Williams et Beuren avec hypertension et anomalies rénales associées.