Diagnostic criteria of William-Beuren syndrome. Reports of 5 cases | [CRITERI DIAGNOSTICI NELLA SINDROME DI WILLIAM-BEUREN. PRESENTAZIONE DI 5 CASI]

The William-Beuren syndrome is a relatively rare disease, classically reported as an association of idiopathic hypercalcemia, peculiar facies defined as 'elfin facies', growth and mental retardation of variable degree and supravalvular aortic stenosis. On the basis of 5 cases of William-Beuren syndrome the authors reviewed some extensive studies and believe that the most consistent features requested for correct diagnosis of this syndrome should be researched in four groups of symptoms: variable mental and growth retardation, peculiar facies and congenital heart defects.