A Case of Meckel-Gruber Syndrome Diagnosed by Ultrasonography at 18 Weeks` Gestation.
- Author:
Jong Hwa KIM
1
;
Hyung Jae WON
;
Dong Hyun CHA
;
Kook LEE
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Yonsei University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Meckel-Gruber syndrome;
Prenatal diagnosis;
Ultrasonography
- MeSH:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Encephalocele;
Liver;
Multicystic Dysplastic Kidney;
Polydactyly;
Pregnancy*;
Prenatal Diagnosis;
Ultrasonography*
- From:Korean Journal of Obstetrics and Gynecology
2001;44(5):1004-1007
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, bilateral multicystic kidneys with fibrotic changes of the liver and postaxial polydactyly. Other anomalies are frequently associated. This syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life and has the high recurrence(one in four) in future pregnancies. We present the case of Meckel-Gruber syndrome diagnosed by ultrasonography at 18 weeks` gestation with a brief literature review.
