Int J Pharm Bio Sci Volume 2 Issue 1, 2011 (January - March), Pages:588-595
MECKEL-GRUBER SYNDROME ASSOCIATED WITH CNS MALFORMATIONS - A CASE REPORT
DR. N. HIMA BINDU,DR. SUSEELA VAVILALA,DR. GEETA
DOI:
Abstract:
Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterised by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. But clinically unsuspected or atypical features may be discovered at autopsy or pathological study. One such rare case, diagnosed by ultrasound scan at 21weeks of gestation was terminated and presented here for discussion, with its phenotypic manifestations detailed by autopsy and histo-pathological examination
Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidneys, post axial polydactyly,
agenesis of corpus callosum, schizencephaly