The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

Authors

  • Katie M.G. Snape,

    1. Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, London, UK
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    • Adams-Oliver Syndrome European Consortium.

  • Deborah Ruddy,

    1. North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK
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  • Martin Zenker,

    1. Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
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    • Adams-Oliver Syndrome European Consortium.

  • Wim Wuyts,

    1. Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
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    • Adams-Oliver Syndrome European Consortium.

  • Margo Whiteford,

    1. Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, Scotland, UK
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  • Diana Johnson,

    1. Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK
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  • Wayne Lam,

    1. Department of Clinical Genetics, Western General Hospital, Edinburgh, UK
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  • Richard C. Trembath

    Corresponding author
    1. Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, London, UK
    2. Department of Medical and Molecular Genetics, King's College London, London, UK
    • Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, Department of Medical and Molecular Genetics, 9th Floor, Tower Wing, Guys Hospital, London SE1 9RT, UK.

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    • Adams-Oliver Syndrome European Consortium.


  • How to cite this article: Snape KMG, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. 2009. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet Part A 149A:1860–1881.

Abstract

The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams–Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. © 2009 Wiley-Liss, Inc.

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