Browsing by Author "KS, Joshi"
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Publication Meckel-Gruber syndrome(Kathmandu University, 2006) U, Ramachandran; T, Malla; KS, JoshiMeckel- 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