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SPORADIC CASE OF APPARENT APROSENCEPHALY
被引：22
作者：
ADKINS, WN
KAVEGGIA, EG
机构：
[1] UNIV WISCONSIN,CTR HLTH SCI,SCH MED,DEPT MED GENET,WISCONSIN CLIN GENET CTR,MADISON,WI 53706
[2] UNIV WISCONSIN,CTR HLTH SCI,SCH MED,DEPT PEDIAT,WISCONSIN CLIN GENET CTR,MADISON,WI 53706
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS
|
1979年
/
3卷
/
03期
关键词：
D O I：
10.1002/ajmg.1320030312
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ;
090102 ;
摘要：
The authors report a sporadic case of apparent aprosencephaly, i.e., apparent absence of forebrain with the facial anomalies of the (alobar) holoprosencephaly field complex. The infant lived 14 months, manifested temperature variations between 34.5 and 41.7°C, and suffered at least one episode of severe hyponatremia suggesting hypoaldosteronism of brain or adrenal origin. Eye changes were suggestive of Rieger mesodermal dysgenesis.
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页码：311 / 314
页数：4
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