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.
点击下载:
PDF
(444KB)
返 回