Meckel-Gruber Syndrome:Autopsy Based Approach to Diagnosis  

作　　者：Asaranti Kar Ipsita Dhal Neha Madurwar Shyama Kanungo 

机构地区：[1]Departments of Pathology and 1O and G,S.C.B.Medical College,Cuttack,Odisha,India

出　　处：《Journal of Forensic Science and Medicine》2016年第1期53-56,共4页法庭科学与法医学杂志（英文）

摘　　要：Meckel–Gruber syndrome(MGS)is a rare lethal congenital malformation affecting 1 in 13,250–140,000 live births.The classical diagnostic triad comprises multicystic dysplastic kidneys,occipital encephalocele,and postaxial polydactyly.It can variably be associated with other malformations such as cleft lip and palate,pulmonary hypoplasia,hepatic fibrosis,and anomalies of central nervous system.A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly,microphthalmia,hypertelorism,cleft lip and palate,neonatal teeth,and the right side club foot which were detected only after doing autopsy.This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death,especially where the antenatal diagnosis has not been made previously.A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.

关 键 词：AUTOPSY congenital anomaly ENCEPHALOCELE HYPERTELORISM Meckel-Gruber syndrome 

分 类 号：R73[医药卫生—肿瘤]