Year: 2015 | Month: March | Volume 2 | Issue 1
Meckel–Gruber Syndrome Fatal Disorder - A Rare Case Report with Review of Literature
Prasad Usha
Sushma J
Rema Nair Sarkar
DOI:10.5958/2394-4196.2015.00003.5
Abstract:
Meckel–Gruber syndrome (MGS) is an rare lethal autosomal recessive genetic disorder, characterized by a unifi cation 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.
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