Autosomal Dominant Inheritance of the Idiopathic Hypercalcemic Syndrome

Abstract

A 16-month-old girl with idiopathic hypercalcemia /failure to thrive, characteristic face, supravalvular aortic stenosis/ has been under observation for 12 months. Her serum calcium level was between 14 and 19 mg per 100 ml, which could not be decreased permanently by any therapeutic efforts including administration of Calcitonin, Prednisolone, Furosemide, sodium sulphate, phosphates and a diet of low calcium intake. Both her father and a 17-year old brother were mentally retarded, and had calcium deposits in their corneae. Their serum calcium values were 11.9 and 13.0 mg per 100 ml, respectively, with increased urinary excretion of calcium. Two other members of the family on the paternal side were also suspicious of the syndrome, while the mother proved to be normal. The family histories are suggestive of autosomal dominant inheritance of the disease.

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