Possible dominant inheritance of the idiopathic hypercalcemic syndrome.
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.
D000293:Adolescent; D000328:Adult; D001024:Aortic Valve Stenosis / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D011509:Proteoglycans / Q000494:pharmacology
D011509:Proteoglycans