Goldenhar syndrome and hemifacial microsomia: observations on three patients.
Three patients with oculoauriculovertebral dysplasia (Goldenhar) or hemifacial microsomia are presented. One had ocular, oral and auricular anomalies; another had vertebral malformations in addition to ocular and oro-auricular anomalies, and in a third only oro-auricular malformations were evident. The oculoauriculovertebral malformation complex is regarded as a variety of bilateral hemifacial microsomia, with the vertebral defects, the rate occipital encephalocele and cleft of lip and palate presumably representing midline interaction between the 2 fields. Hemifacial microsomia is a causally non-specific developmental field complex (DFC) which usually occur sporadically, but can also be seen as an autosomal dominant trait and as a component manifestation in the 18 trisomy syndrome. Pathogenetic and therapeutic considerations are also discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002902:Chromosomes, Human, 16-18; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D004677:Encephalocele / Q000150:complications; D005146:Facial Asymmetry / Q000150:complications; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy