Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.

Abstract

Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.

DOI: 10.1007/s40477-016-0231-4