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
