NEW CASE OF AXIAL MESODERMAL DYSPLASIA SEQUENCE - EPIDEMIOLOGIC EVIDENCE OF A SINGLE ENTITY

We describe a child with manifestations of the oculo(facio)-auriculo-v ertebral spectrum and caudal dysgenesis. This is the sixth axial mesod ermal dysplasia sequence case to be reported. The infant was ascertain ed through the Spanish Collaborative Study of Congenital Malformations (ECEMC). It was possible to calculate the prevalence figure for the a ssociation of both conditions in the same child, as well as its expect ed chance frequency. Comparison of the expected with the observed freq uency supports the suggestion that the concurrence of oculo(facio)-aur iculo-vertebral sequence and caudal dysgenesis could well constitute a single entity.