Meckel Gruber syndrome: a single gene cause of recurrent neural tube defects

Abstract

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.