Williams-Beuren Syndrome is a contiguous gene syndrome involving chromosome 7.


Inheritance: autosomal dominant


Genetic defect: microdeletion at chromosome 7q11.23 involving the ELASTIN locus with some involvement of the LIM-KINASE locus


Clinical findings:

(1) facial dysmorphism

(2) cardiovascular findings

(3) mental retardation with a gregarious personality

(4) growth deficiency


Facial dysmorphism described as "elfin-like":

(1) periorbital fullness

(2) stellate pattern to the irides

(3) anteverted nares

(4) long philtrum

(5) prominent, full lips


Cardiovascular changes:

(1) supravalvular aortic stenosis (SVAS)

(2) peripheral pulmonary artery stenosis

(3) pulmonic valvular stenosis

(4) renal artery stenosis and hypertension


Laboratory findings:

(1) hypercalcemia starting during infancy

(2) demonstration of genetic defect with FISH


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