Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: review of Goldenhar complex and malformations of left-right asymmetry

Am J Med Genet. 1998 Jan 6;75(1):88-94. doi: 10.1002/(sici)1096-8628(19980106)75:1<88::aid-ajmg18>3.0.co;2-o.

Abstract

We observed a girl with an interrupted, left inferior vena cava with hemiazygous continuation, bilateral superior venae cavae, heart defects, and sacral agenesis. She had macrostomia and bilateral ear tags and pits, as in oculoauriculovertebral defect. Maternal diabetes was present. The combination, which we call OAV-heterotaxia complex, supports the view that some cases of oculoauriculovertebral defect may be part of a midline field defect of blastogenesis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Female
  • Goldenhar Syndrome / diagnostic imaging
  • Goldenhar Syndrome / genetics
  • Goldenhar Syndrome / pathology*
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Radiography
  • Vena Cava, Inferior / abnormalities*
  • Vena Cava, Inferior / diagnostic imaging
  • Vena Cava, Superior / abnormalities*
  • Vena Cava, Superior / diagnostic imaging