Meckel-Gruber Syndrome Fatal Disorder - A Rare Case Report with Review of Literature Uma Prasad1,*, Usha Prasad2, Sushma J1, Sarkar Rema Nair1 1Department of Pathology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India 2Department of Obstetrics and Gynecology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India *Address for Correspondence: Dr. Prasad Uma, Q No. 49-3-3, Lalithanagar, Visakhapatnam - 530 016, Andhra Pradesh, India. Phone: +91-9490601461. E-mail: usha1966411@gmail.com
Online published on 9 April, 2015. Abstract Meckel–Gruber syndrome (MGS) is an rare lethal autosomal recessive genetic disorder, characterized by a unification of renal cysts or cystic renal dysplasia, developmental anomalies of the central nervous system, hepatic dysgenesis and postaxial polydactyly. MGS (MS) is a rare and lethal syndrome characterized by a triad of occipital cephalocele, postaxial polydactyly and dysplastic cystic kidneys. It is a rare syndrome with the highest incidence in Gujarati Indians and Finnish population. We report a case of MGS in non-Gujarati Indian, which was diagnosed on fetal autopsy. The incidence of MGS ranges from 1 in 13,250 to 1 in 40,000 live birth. Top Keywords Meckel–Gruber syndrome, non-Gujarati Indian, rare. Top |