GALLOWAY-MOWAT SYNDROME IN TAIWAN

被引:18
作者
HOU, JW
WANG, TR
机构
[1] Department of Pediatrics, National Taiwan University Hospital, Taipei 10002
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 58卷 / 03期
关键词
CONGENITAL NEPHROSIS; MICROCEPHALY; PORENCEPHALY; CONTRACTURAL ARACHNODACTYLY; GALLOWAY-MOWAT SYNDROME;
D O I
10.1002/ajmg.1320580310
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on two Chinese female infants with multiple congenital anomalies: microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly. In the first patient, focal glomerulosclerosis was diagnosed histologically by percutaneous renal biopsy due to proteinuria with hematuria. Congenital hypothyroidism presenting with markedly low T3 and T4 was also noted. She died at age 5 months. The second patient had a very similar condition but less severe brain and kidney malformations. A variant of Galloway-Mowat syndrome is suspected. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:245 / 248
页数:4
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