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Hum Hered. 1975;25(1):30-4.

Possible dominant inheritance of the idiopathic hypercalcemic syndrome.

Abstract

A girl, aged 16 months, with idiopathic hypercalcemia (failure to thrive, characteristic face, supravalvular aortic stenosis) was observed. Her serum calcium level was between 14 and 20 mg/100 ml. Both her father and brother were mentally retarded and had calcium deposits in their corneae. Their serum calcium values were 11.9 and 13.0 mg/100 ml, respectively, with increased urinary output of calcium. The family history is suggestive of autosomal dominant inheritance of the disease.

PMID:
1150292
[PubMed - indexed for MEDLINE]
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