Publication: Meckel-Gruber syndrome
Date
2006
Authors
Article Type
Case Report
Journal Title
Journal ISSN
1812-2027
Volume Title
Pages
Pages: 334 - 336
Publisher
Kathmandu University
Abstract
Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a
triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due
to pulmonary hypoplasia. We report this rare case which presented with many associated defects.
Key words: - MKS syndrome, meningoencephalocoele
Description
Ramachandran U 1, Malla T2, Joshi KS 3
1Department of Paediatrics, Manipal Teaching Hospital, Pokhara, Nepal