KUMJ | VOL. 4 | NO. 2 | ISSUE 14 | APRIL-JUNE, 2006

Meckel-Gruber syndrome
Ramachandran U, Malla T, Joshi KS


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.


Keyword : MKS syndrome, meningoencephalocoele