Denouement and Discussion
Infantile Hypercalcemia With Mental Retardation
(Supravalvular Aortic Stenosis Syndrome)
Manifestations
Infantile hypercalcemia, supravalvular aortic stenosis, mental retardation and a characteristic facies including an "elfin-like" appearance are the major manifestations. Some of these children are premature or small-for-dates infants who present with failure to thrive often associated with vomiting. In a number of cases hypercalcemia has been documented; in the majority, studies have been carried out later in childhood at which time calcium levels have presumably returned to normal. Although still unsettled, most evidence suggests that the facies and vascular abnormalities are caused by fetal or infantile hypercalcemia.The facies are "elfin-like," with full cheeks and a broad forehead. Hypertelorism, epicanthal folds and strabismus may be present. The ears are prominent and pointed. The mouth has a broad upper lip with a "cupid-bow", small teeth and mandible, and a pointed chin. Although cardiac symptoms are not always present,