Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective

Abstract

We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet. We suspect he has a previously undescribed syndrome of presently unknown cause. We also discuss this case from a developmental field perspective, in view of the unusual combination of cerebral and facial defects.