Meckel Syndrome

Abstract

Meckel syndrome is a rare, lethal, genetic disorder that can be diagnosed sonographically. Five cases of Meckel syndrome were sonographically observed prenatally between 18 and 33 weeks. In all five cases, the fetal kidneys were large and echogenic. Two of four fetuses with encephaloceles were correctly identified sonographically, and two of four fetuses with polydactyly were identified with ultrasound. Major sonographic findings in 24 previously reported cases are reviewed. Differential diagnoses are also discussed. In any fetus with large, echogenic kidneys, one should suspect Meckel syndrome and should search for the other associated abnormalities, chiefly, encephalocele, polydactyly, hydrocephalus, and cleft lip and palate.