Galloway-Mowat syndrome in Taiwan.
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.
Department of Pediatrics, National Taiwan University Hospital, Taipei.
J W
JW
Hou
T R
TR
Wang
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003409:Congenital Hypothyroidism; D005145:Face / Q000002:abnormalities*; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D009401:Nephrosis / Q000151:congenital*; D013577:Syndrome; D013624:Taiwan; D014057:Tomography, X-Ray Computed