Anophthalmia and agenesis of columnella, prolabium and premaxilla without hypotelorism-a new syndrome? Case reports.
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.
D000015:Abnormalities, Multiple; D000853:Anophthalmos / Q000150:complications; D002971:Cleft Lip; D002972:Cleft Palate; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities*; D008297:Male; D008437:Maxilla / Q000002:abnormalities*; D008445:Maxillofacial Development; D009300:Nasal Septum / Q000002:abnormalities*; D013577:Syndrome