Journal of Pathology and Translational Medicine

Case Report

Meckel-Gruber Syndrome: An autopsy case.: Soong Deok Lee, Chul Woo Kim, Je Geun Chi; Korean J Pathol. 1988;22(4):505-509.

Abstract PDF: We report an autopsy of a male fetus that showed multiple congenital anomalies that could best be designated as Meckel-Gruber syndrome. The fetus was born dead at the gestational age of 38 weeks. His parents denied any history of congenital malformation. And the parity of the mother was 0-0-0-0, but she had the past history of receiving herb medication for common cold. The congenital anomalies found in this case consited of occipital meningoencephalocele, midline cleft palate, bifid epiglottis, hepatic fibrosis, choledochal cyst, bilateral polycystic kidneys, postaxial polydactyly of both hands and feet, aplasia of the left testis, secundum type atrial septal defect and patent ductus arterious. This malformation syndrome is rare and lethal. The prenatal diagnosis should be made by ultrasound study or analysis of the amniotic fluid for alpha-feto protein during intrauterine period. The kidneys showed Potter type III cystic change and there was a characteristic hepatic fibrosis.

Search