Variability versus "incidental findings" in the first and second branchial arch syndrome: unilateral variants with anophthalmia.
Four cases of hemifacial microsomia with unilateral anophthalmia are presented and various nosologic problems in the branchial arch dysplasias are discussed. Hemifacial microsomia with unilateral anophthalmia may or may not represent a formal genesis syndrome and nosologic entity different from other types of hemifacial microsomia. The disorder is not in reality a branchial arch dysplasia, but rather a complex dysmorphogenetic syndrome.
D000015:Abnormalities, Multiple / Q000196:embryology; D000293:Adolescent; D000328:Adult; D000853:Anophthalmos / Q000150:complications*; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D003884:Dermoid Cyst; D004423:Ear / Q000002:abnormalities*; D005134:Eye Neoplasms; D005145:Face / Q000002:abnormalities*; D007839:Functional Laterality; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007569:Jaw Abnormalities / Q000150:complications; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000145:classification; D009333:Neck / Q000002:abnormalities*; D016135:Spinal Dysraphism / Q000150:complications; D013577:Syndrome