Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports

Aust Dent J. 1994 Oct;39(5):287-91. doi: 10.1111/j.1834-7819.1994.tb05564.x.

Abstract

Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Branchial Region / abnormalities
  • Branchial Region / pathology
  • Child
  • Ear, External / abnormalities
  • Facial Asymmetry / genetics*
  • Facial Asymmetry / pathology
  • Female
  • Genes, Dominant*
  • Goldenhar Syndrome / genetics
  • Goldenhar Syndrome / pathology
  • Humans
  • Male
  • Malocclusion, Angle Class I / pathology
  • Malocclusion, Angle Class II / pathology
  • Mandibular Condyle / abnormalities
  • Mandibular Condyle / pathology
  • Pedigree