Meckel–Gruber syndrome: ultrasonographic and fetal autopsy correlation

• DOI: 10.1007/s40477-016-0231-4
• Publication Date: 2017-01-04T12:17:22Z
• Authors: Shruti Khurana; Vikram Saini; Vibhor Wadhwa; Harveen Kaur
• Keywords: Polycystic Kidney Diseases; Membrane Proteins; Abortion, Induced; Kidney; Ultrasonography, Prenatal; Fetal Diseases; 03 medical and health sciences; Fatal Outcome; 0302 clinical medicine; Humans; Female; Genetic Testing; Retinitis Pigmentosa; Ciliary Motility Disorders; Encephalocele

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.