Case Reports
Meckel-Gruber syndrome
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- PMID: 18603929
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Case Reports
Meckel-Gruber syndrome
Kathmandu Univ Med J (KUMJ).
2006 Jul-Sep.
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.
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