Oculoauriculovertebral anomaly: variability and causal heterogeneity

Abstract

The oculoauriculovertebral anomaly is a complex developmental field defect. There is lack of agreement on the minimal diagnostic criteria and the phenotypic spectrum. Causal heterogeneity has been described. This report reviews aspects of phenotypic variability and causal heterogeneity and discusses current understanding of the defect.