Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)

Am J Med Genet A. 2004 May 15;127A(1):26-34. doi: 10.1002/ajmg.a.20643.


Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the same technique, we have earlier defined epidemiological delineations of three other well-known non-random associations of congenital malformations (CHARGE, VATER, and OEIS). We found convincing relationships between OAV and VATER or CHARGE but none between OAV and OEIS or between the three malformation complexes CHARGE, VATER, and OEIS. An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / epidemiology*
  • Abnormalities, Multiple / genetics
  • Ear / abnormalities
  • Epidemiologic Methods
  • Eye Abnormalities / epidemiology
  • Eye Abnormalities / genetics
  • Goldenhar Syndrome / epidemiology*
  • Humans
  • Infant
  • Spine / abnormalities
  • Syndrome