Etiologic heterogeneity in the oculoauriculovertebral syndrome.

The occurrence of this syndrome in two siblings, a boy and a girl, of normal parents suggests that this condition is inherited in an autosomal recessive fashion. Because of the consistent type and severity of l imb reduction defects seen in this syndrome, prenatal diagnosis using ultrasound should be able to detect affected individuals prior to 20 weeks' gestational age. The difference in facial appearance in these affected siblings demonstrates that phenotypic variability is present in the postaxial acrofacial dysostosis syndrome.