Goldenhar syndrome and hemifacial microsomia: observations on three patients.

Abstract

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.

• Authors: P Thomas
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 133 Issue 3 Pg. 287-92 (May 1980) ISSN: 0340-6199 [Print] Germany
• PMID: 7389743 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Chromosomes, Human, 16-18
• Cleft Lip (complications)
• Cleft Palate (complications)
• Encephalocele (complications)
• Facial Asymmetry (complications)
• Female
• Goldenhar Syndrome (diagnosis)
• Humans
• Infant
• Infant, Newborn
• Male
• Mandibulofacial Dysostosis (diagnosis)
• Spine (abnormalities)
• Syndrome
• Trisomy