Meckel-Gruber syndrome.Kathmandu Univ Med J (KUMJ). 2006 Jul-Sep; 4(3):334-6.KU
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.