摘要Williams-Beuren syndrome (WBS) is a hereditary disease involving multiple systems due to microdeletion of chromosome 7q11.23.The deleted region in most patients is approximately 1.55 Mb,including 26-28 genes.The incidence of WBS in live-born children is roughly 1/7 500-1/25 000.1 The majority of WBS cases are sporadic;inheritance is autosomal dominant.The clinical manifestations of WBS include aortic valve stenosis alone or combined with other cardiovascular malformations,characteristic facies (full peri-orbital region,flat and short nose,upward pointingnose,long philtrum,wide mouth thick lips,and disorders of the teeth),temporary hypercalcemia,developmental retardation associated with mild-to-moderate dysgnosia,and personality changes.Salmon calcitonin (miacalcic) is widely used in the treatment of adult hypercalcemia crisis.