MECKEL-GRUBER SYNDROME ASSOCIATED WITH CNS MALFORMATIONS - A CASE REPORT

Authors

  • DR. N. HIMA BINDU Assistant Professor, Bhaskar Medical College, Moinabad, RR Dist. AP, India
  • DR. SUSEELA VAVILALA Fetal Medicine Consultants, Fernandez Hospital, Hyderabad, AP, India
  • DR. GEETA Fetal Medicine Consultants, Fernandez Hospital, Hyderabad, AP, India

Keywords:

Meckel-Gruber syndrome, occipital encephalocele, polycystic kidneys, post axial polydactyly, agenesis of corpus callosum, schizencephaly

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

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Published

31.03.2011

How to Cite

DR. N. HIMA BINDU, DR. SUSEELA VAVILALA, & DR. GEETA. (2011). MECKEL-GRUBER SYNDROME ASSOCIATED WITH CNS MALFORMATIONS - A CASE REPORT. International Journal of Pharma and Bio Sciences, 2(1), 588–595. Retrieved from https://ijpbs.net/index.php/journal/article/view/733

Issue

Volume 2, Issue 1, 2011

Section

Case Reports

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