Oculoauriculovertebral anomaly: variability and causal heterogeneity.
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.
Rollnick
B R
BR
Center for Craniofacial Anomalies, University of Illinois College of Medicine, Chicago 60680.
D005260:Female; D006053:Goldenhar Syndrome / Q000145:classification / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*