Lin H J, Owens T R, Sinow R M, Fu P C, DeVito A, Beall M H, Lachman R S
Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California 90502, USA.
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.
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.
