Anophthalmia and Agenesis of Columnella, Prolabium and Premaxilla without Hypotelorism—A New Syndrome?

Abstract

Three patients with a syndrome consisting of anophthalmia, midline upper lip pseudocleft with absent columnella, prolabium and premaxilla, but without hypo-or hypertelorism are presented, together with three borderline cases with an- or microphthalmia and lacking distal half of the nose or cleft lip and palate. The pathogenesis and relations to other facial anomalies are discussed.