Goldenhar syndrome and hemifacial microsomia: observations on three patients

Eur J Pediatr. 1980 May;133(3):287-92. doi: 10.1007/BF00496092.

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.

Publication types

  • Case Reports

MeSH terms

  • 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