Meckel-Gruber syndrome |
Jung Seo Park1, Ji Yoen Lee1, Sun Chan Bae1, Moon Sung Park1, Jung Seon Kim2, Si Houn Hahn1, Chang Ho Hong1 |
1Department of Pediatrics, School of Medicine, Ajou University, Suwon, Korea 2Department of Pathology, School of Medicine, Ajou University, Suwon, Korea |
Meckel-Gruber 증후군 1례 |
박정서1, 이지연1, 배선찬1, 박문성1, 김정선2, 한시훈1, 홍창호1 |
1아주대학교 의과대학 소아과학교실 2아주대학교 의과대학 해부병리학교실 |
Correspondence:
Si Houn Hahn, Email: 1 |
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Abstract |
Meckel-Gruber syndrome is a multiple malformation syndrome featuring occipital meningoencephalocele, multicystic dysplasia of kidney, cystic and fibrotic change of liver, polydactyly, and other characteristics inherited by the autosomal recessive trait. We exprienced a case of Meckel-Gruber syndrome in a newborn male diagnosed clinically and confirmed pathologically. Abnormalities of the fetus were found prenataly by ultrasonogram, and subsequently the baby was terminated by cesarean section delivery at 32 weeks of gestational age. We report this case with brief review of literature. |
Key Words:
Meckel-Gruber syndrome |
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