Meckel-Gruber syndrome: a rare and lethal foetal anomaly

Parikshit Jondhale, Mohit Marda, Vidyadhar B. Bangal, Nikita Bagdi


Meckel-Gruber syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other congenital malformations. The incidence of Meckel-Gruber syndrome ranges between 1 in 13,000 to 4,00,000 live births. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features. A case is presented that describes a baby with ambiguous genitalia, who presented with the triad of Meckel-Gruber syndrome. The baby died shortly after birth.


Autosomal recessive disorder, Encephalocele, Meckel-Gruber syndrome, Polydactyly, Renal cystic dysplasia

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