Literature DB >> 9450864

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

H J Lin1, T R Owens, R M Sinow, P C Fu, A DeVito, M H Beall, R S Lachman.   

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.

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Year:  1998        PMID: 9450864     DOI: 10.1002/(sici)1096-8628(19980106)75:1<88::aid-ajmg18>3.0.co;2-o

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  The curious case of the disappearing IVC: a case report and review of the aetiology of inferior vena cava agenesis.

Authors:  Michael Paddock; Nicola Robson
Journal:  J Radiol Case Rep       Date:  2014-04-01

2.  Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2008-12-19

3.  A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Authors:  Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal:  Appl Clin Genet       Date:  2011-07-06
  3 in total

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