Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound.

Abstract

Oculoauriculofrontonasal syndrome is a rare developmental field defect that represents an abnormal morphogenesis of the frontonasal eminence. It consists of features of both oculoauriculovertebral spectrum and frontonasal malformation. A few cases in the literature have described this syndrome, but to the best of our knowledge the present case is the first early prenatal diagnosis of this severe condition using three-dimensional ultrasonography.