Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
Shruti KhuranaVikram SainiVibhor WadhwaHarveen KaurPublished in: Journal of ultrasound (2017)
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.