Sirenomelia in an identical twin: a case report

Sirenomelia, or the mermaid syndrome, is the most extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, anal imperforation, and renal agenesis or dysgenesis. Because of the resultant oligohydramnios, these infants most often have Potter's facies and pulmonary hypoplasia. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. It has been suggested that the association of the most extreme form of caudal regression, sirenomelia, with monozygotic twinning may represent developmental arrest of the primitive streak, with creation of a second primitive streak that gives rise to the usually normal twin. The embryology of the various presentations of the caudal regression syndrome may be further delineated by studying infants with this dramatic and fatal syndrome.