Meckel-Gruber Syndrome Fatal Disorder - A Rare Case Report with Review of Literature

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.