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Sirenomelia

Report of a Case With Thoughts on the Teratogenetic Mechanism

From the Department of Obstetrics and Gynecology B at Municipal Medical Center. Tel Aviv. Israel and the Department of Embryology and Teratology at Tel-Hashomer. Tel-Aviv University. Tel-Aviv. Israel.

A case of sirenomelia in a 20-week-old fetus is described, in which the lower limbs were fused, with two distinct skeletal axes. The external genitalia were absent and the anus was not open. The urinary bladder, prostate, and rectum were not formed. Various anomalies in the urogenital system and lower intestinal tract were Found.

Previous theories concerning the development of similar malformations are reviewed. A possible mechanism of the teratogenesis of this monstrosity is proposed in which a primary defect of cloacal development is considered as the morphogenetic factor responsible for the combined anomalies. The primordial defect seems to originate either in the early caudal entoderm or in the primitive streak mesoderm.