Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 Jan-Feb;34(1):27-31.


Most cases of oculo-auriculo-vertebral spectrum are sporadic. Here, we report a family in which there are seven affected members spanning three consecutive generations. It supports the pattern of autosomal dominant transmission. It is important to evaluate the first-degree relatives to exclude any facial manifestations, even of minor anomaly, before giving genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Genes, Dominant*
  • Goldenhar Syndrome / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree