New case of axial mesodermal dysplasia sequence: epidemiologic evidence of a single entity

Abstract

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