Meckel-Gruber syndrome.
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.
Ramachandran
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U
Department of Paediatrics, Manipal Teaching Hospital, Pokhara, Nepal.
Malla
T
T
Joshi
K S
KS
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D006332:Cardiomegaly / Q000235:genetics; D002423:Cause of Death; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics; D004677:Encephalocele / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008588:Meningocele / Q000453:epidemiology / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics; D008844:Micrognathism / Q000235:genetics; D009390:Nepal / Q000453:epidemiology; D007690:Polycystic Kidney Diseases / Q000453:epidemiology / Q000235:genetics*; D017689:Polydactyly / Q000453:epidemiology / Q000235:genetics*; D035583:Rare Diseases / Q000453:epidemiology / Q000235:genetics; D063173:Retrognathia / Q000235:genetics; D013577:Syndrome