Warning: fopen(/home/virtual/pediatrics/journal/upload/ip_log/ip_log_2024-04.txt) [function.fopen]: failed to open stream: Permission denied in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 82

Warning: fwrite(): supplied argument is not a valid stream resource in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 83
Galloway-Mowat Syndrome in Two Siblings

Journal of the Korean Pediatric Society 2001;44(9):1081-1084.
Published online September 15, 2001.
Galloway-Mowat Syndrome in Two Siblings
Hae-Sung Jung, Eun-Young Cho, Jae-Young Lim, Ji-Hyeoan Seo, Myoung-Bum Choi, Chan-Ho Park, Hang-Ok Woo, Hee-Shang Youn
Department of Pediatrics, College of Medicine, Gyeongsang National University, Chinju, Korea
남매에서 발생한 Galloway-Mowat 증후군 2례
정혜성, 조은영, 임재영, 서지현, 최명범, 박찬후, 우향옥, 윤희상
경상대학교 의과대학 소아과학교실
Abstract
We report on two Korean siblings with multiple congenital anomalies : microcephaly, gyral abnormality, minor facial anomalies, and congenital nephrotic syndrome. The first infant developed proteinuria at age 3 days. This condition appeared similar to that described by Galloway and Mowat and reviewed by Cooperstone, et al, especially the presence of abnormal gyral patterns. She died at 19 months. The second infant; the brother of the first baby had a very similar condition. These two cases may represent the first cases of Galloway-Mowat syndrome in the Korean population.
Key Words: Galloway-Mowat syndrome, Microcephaly, Gyral abnormality, Congenital nephrotic syndrome


METRICS Graph View
  • 2,495 View
  • 31 Download