Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum

Clin Genet. 1995 Aug;48(2):66-71. doi: 10.1111/j.1399-0004.1995.tb04057.x.


Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. We reviewed the records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993. Of 60 OAVS patients, three had TEF/EA. These results suggest that TEF/EA in association with OAVS is underreported. The occurrence of TEF/EA should prompt a thorough search for other known anomalies of OAVS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Esophagus / abnormalities*
  • Female
  • Goldenhar Syndrome / genetics*
  • Humans
  • Infant
  • Trachea / abnormalities*
  • Tracheoesophageal Fistula / genetics