Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies

Many authors consider sirenomelia to be an extreme form of caudal regression syndrome (CRS), while others argue that they are two distinct entities. Maternal diabetes mellitus is considered to be an important predisposing factor for both CRS and sirenomelia. Two rare cases of diabetic, dizygotic twin pregnancies, each with one normal and one affected fetus are presented. In case 1 the affected fetus had CRS. In case 2 the affected fetus had sirenomelia. The present cases suggest that the pathogenesis of CRS and sirenomelia is more complex than previously thought, that maternal diabetes is not the only underlying pathogenetic mechanism and that genetic or epigenetic factors probably contribute to the formation of these conditions.