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Possible Dominant Inheritance of the Idiopathic Hypercalcemic Syndrome

 

作者: K. Méhes,   Zs. Szelid,   P. Tóth,  

 

期刊: Human Heredity  (Karger Available online 1975)
卷期: Volume 25, issue 1  

页码: 30-34

 

ISSN:0001-5652

 

年代: 1975

 

DOI:10.1159/000152705

 

出版商: S. Karger AG

 

关键词: Idiopathic hypercalcemia;Family study

 

数据来源: Karger

 

摘要:

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/l00 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.

 

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