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.
MeSH terms
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Abnormalities, Multiple / epidemiology
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Abnormalities, Multiple / genetics*
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Cardiomegaly / genetics
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Cause of Death
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Chromosomes, Human, Pair 17 / genetics
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Cleft Palate / genetics
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Cryptorchidism / genetics
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Encephalocele / epidemiology
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Encephalocele / genetics*
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Humans
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Infant, Newborn
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Male
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Meningocele / epidemiology
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Meningocele / genetics*
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Microcephaly / genetics
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Micrognathism / genetics
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Nepal / epidemiology
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Polycystic Kidney Diseases / epidemiology
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Polycystic Kidney Diseases / genetics*
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Polydactyly / epidemiology
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Polydactyly / genetics*
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Rare Diseases / epidemiology
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Rare Diseases / genetics
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Retrognathia / genetics
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Syndrome