J Korean Pediatr Soc.
1998 Jun;41(6):856-860.
Meckel-Gruber syndrome
- Affiliations
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- 1Department of Pediatrics, School of Medicine, Ajou University, Suwon, Korea.
- 2Department of Pathology, School of Medicine, Ajou University, Suwon, Korea.
Abstract
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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.