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 |
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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 |
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