Galloway-Mowat syndrome in Taiwan

Am J Med Genet. 1995 Sep 11;58(3):245-8. doi: 10.1002/ajmg.1320580310.


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.

MeSH terms

  • Abnormalities, Multiple*
  • Brain / abnormalities*
  • Brain / diagnostic imaging
  • Congenital Hypothyroidism*
  • Face / abnormalities*
  • Female
  • Hand Deformities, Congenital*
  • Humans
  • Infant, Newborn
  • Nephrosis / congenital*
  • Syndrome
  • Taiwan
  • Tomography, X-Ray Computed