- failure to thrive during early infancy
- repeated childhood infections
- constipation which improves after age 1 year
- idiopathic infantile hypercalcaemia - William's syndrome, which is associated with a classic elfin facies
- mental retardation
Familial cases of supravalvular stenosis usually have a normal face, therefore asymptomatic siblings and parents of such patients should be screened.
Last reviewed 11/2021