Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects.
Meckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel parents regarding the 25% recurrence risk. We report a consanguineous family with MGS affecting three infants.
de Silva
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Department of Physiology, Faculty of Medicine, University of Kelaniya, Ragama.
Suriyawansa
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Mangalika
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Samarasinghe
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D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001344:Autopsy; D003241:Consanguinity; D004677:Encephalocele / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005317:Fetal Growth Retardation / Q000209:etiology; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D016104:Oligohydramnios / Q000209:etiology; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017689:Polydactyly / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D012307:Risk Factors; D013577:Syndrome; D016216:Ultrasonography, Prenatal