Article

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

  • European Journal of Human Genetics volume 19, pages 513519 (2011)
  • doi:10.1038/ejhg.2010.234
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Abstract

Bohring–Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients. This is the largest series reported to date, providing a unique opportunity to document the key clinical features and course through childhood. Investigations undertaken to try and elucidate the underlying pathogenesis of BOS using array comparative genomic hybridization and tandem mass spectrometry of cholesterol precursors did not show any pathogenic changes responsible.

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Acknowledgements

We thank all of the patients and their families and Dr Kaname for analysis of the TACTILE gene in several patients.

Author information

Affiliations

  1. Clinical Genetics Department, Univerity Hospitals NHS Foundation Trust, St Michael's Hospital, Bristol, UK

    • Rob Hastings
    • , Peter Lunt
    • , Sarah Smithson
    •  & Ruth Newbury-Ecob
  2. Department of Pediatric Genetics, Emma Kinderziekenhuis AMC, Amsterdam, The Netherlands

    • Jan-Maarten Cobben
  3. Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany

    • Gabriele Gillessen-Kaesbach
  4. Institute of Human Genetics, Newcastle University, Newcastle Upon Tyne, UK

    • Judith Goodship
  5. Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark

    • Hanne Hove
    •  & Susanne Kjaergaard
  6. Department of Biochemistry, Southmead Hospital, Bristol, UK

    • Helena Kemp
    •  & Catherine Murdoch-Davis
  7. Department of Genetic Medicine, MAHSC, St Mary's Hospital, Manchester, UK

    • Helen Kingston
    •  & Kay Metcalfe
  8. Southwest Thames Regional Genetics Service, St George's Hospital, London, UK

    • Sahar Mansour
  9. Department of Medical Genetics, Yorkhill Hospitals, Yorkhill, Glasgow, UK

    • Ruth McGowan
    •  & John Tolmie
  10. Department of Child Health, Royal Hospital for Sick Children, Glasgow, UK

    • Mary Ray
  11. Département de Génétique, Université Paris Descartes, Paris, France

    • Marlène Rio
  12. Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK

    • Peter Turnpenny
  13. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    • Bregje van Bon
  14. Institutut für Humangenetik, Universitätsklinikum Essen, Essen, Germany

    • Dagmar Wieczorek

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Competing interests

The authors declare no conflict of interest.

Corresponding author

Correspondence to Ruth Newbury-Ecob.