Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.
Two unrelated children (one male, the other female) had unusual craniofacial anomalies consisting of hemangiomatous branchial clefts, lip pseudoclefts, and identical unusual facial appearance. One also had unilateral microphthalmia and both had congenital nasolacrimal duct obstruction. Two similar, sporadic cases from the literature were also identified. These four cases form the basis of a new, distinctly recognizable pattern of malformation.
D001935:Branchioma / Q000235:genetics*; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics; D006391:Hemangioma / Q000235:genetics*; D006801:Humans; D008297:Male; D009301:Nasolacrimal Duct / Q000002:abnormalities; D013577:Syndrome