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International Journal of Dental and Medical Specialty
Year : 2015, Volume : 2, Issue : 1
First page : ( 14) Last page : ( 17)
Print ISSN : 2350-0921. Online ISSN : 2394-4196.
Article DOI : 10.5958/2394-4196.2015.00003.5

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.

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Keywords

Meckel–Gruber syndrome, non-Gujarati Indian, rare.

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