Oculo-auriculo-vertebral spectrum with vascular ring and other unusual anomalies.

An infant with the oculo-auriculo-vertebral (OAV) spectrum is described with the previously unreported association of rectal agenesis with recto-urethral fistula. The patient died at the age of 14 weeks from respiratory obstruction. Autopsy revealed the cause of death to be tracheal compression from a pulmonary artery sling. Previous reports of vascular rings within the OAV spectrum are reviewed, and it is concluded that these malformations are an uncommon, but clinically important, complication of the disorder.