Craniorachischisis totalis and sirenomelia

We report on a male infant with craniorachischisis totalis and sirenomelia, an association that seems to have been observed only 5 times before. In addition to these anomalies, the patient had hypoplasia of the phalanges of the right thumb. The pattern of associated malformations in infants with anencephaly and sirenomelia is reviewed. This condition, which combines cephalic and caudal defects of the embryo, could be considered an example of the "axial mesodermal dysplasia spectrum" and may be related to the midline developmental field concept.