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이민아 ( Min A Lee ),현석환 ( Suk Whan Hyun ),황순호 ( Soon Ho Hwang ),신관섭 ( Kwan Seop Shin ),양정보 ( Jung Bo Yang ),이진구 ( Jin Goo Lee ),손성경 ( Sung Kyong Son ),이윤이 ( Yun Ee Rhee ) 대한산부인과학회 2006 Obstetrics & Gynecology Science Vol.49 No.10
Meckel Gruber syndrome consisting of an occipital encephalocele, polycystic kidney disease and polydactyly is a rare autosomal recessive disorder with a recurrence risk of 25%. Targeted ultrasonography in late embryonic or early fetal stages of pregnancy has great importance in diagnosis and management of affected pregnancy in high risk groups due to incomplete genetic mapping of meckel syndrome gene (MKS). We present a case of prenatal diagnosis at 14 weeks` gestational age of Meckel Gruber syndrome in a woman, who experienced same disorder in her previous pregnancy.