|Title:||Galloway-Mowat Syndrome in Taiwan||Authors:||HOU, JIA-WOEI
|Issue Date:||1995||Journal Volume:||v.58||Journal Issue:||n.3||Start page/Pages:||245-248||Source:||AMERICAN JOURNAL OF MEDICAL GENETICS||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.
|Appears in Collections:||醫學系|
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