Galloway-Mowat Syndrome in Taiwan
Resource
AMERICAN JOURNAL OF MEDICAL GENETICS v.58 n.3 pp.245-248
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS
Journal Volume
v.58
Journal Issue
n.3
Pages
245-248
Date Issued
1995
Date
1995
Author(s)
HOU, JIA-WOEI
WANG, TSO-REN
Abstract
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 Galoway-Mowat syndrome is suspected.
Type
journal article