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
  • Download Citation
Published online:


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.

  • Subscribe to European Journal of Human Genetics for full access:



Additional access options:

Already a subscriber?  Log in  now or  Register  for online access.


  1. 1.

    , , et al: Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet 1999; 85: 438–446.

  2. 2.

    , : The Opitz trigonocephaly syndrome. Am J Dis Child 1975; 129: 1348–1349.

  3. 3.

    , , et al: ‘C’ trigonocephaly syndrome with diaphragmatic hernia. Genet Counsel 1995; 6: 113–120.

  4. 4.

    , , , , , : Siblings with Bohring–Opitz syndrome. Clin Dysmo 2003; 12: 15–19.

  5. 5.

    , , et al: Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants. Eur J Med Genet 2007; 50: 243–255.

  6. 6.

    , , , : Infantile high myopia in Bohring–Opitz syndrome. J AAPOS 2007; 11: 524–525.

  7. 7.

    : Diagnosis of Smith–Lemli–Optiz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblast. Clin Chim Acta 1995; 236: 45–58.

  8. 8.

    , , et al: Evolution of a patient with Bohring–Opitz syndrome. Am J Med Genet 2009; 149A: 1754–1757.

  9. 9.

    , , : Trisomy of 3pter in a patient with apparent C (trigoncephaly) syndrome. Am J Med Genet 2000; 94: 311–315.

  10. 10.

    , , , , , : Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet 2006; 140A: 1655–1657.

  11. 11.

    , , et al: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 2007; 81: 835–841.

Download references


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

Author information


  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


  1. Search for Rob Hastings in:

  2. Search for Jan-Maarten Cobben in:

  3. Search for Gabriele Gillessen-Kaesbach in:

  4. Search for Judith Goodship in:

  5. Search for Hanne Hove in:

  6. Search for Susanne Kjaergaard in:

  7. Search for Helena Kemp in:

  8. Search for Helen Kingston in:

  9. Search for Peter Lunt in:

  10. Search for Sahar Mansour in:

  11. Search for Ruth McGowan in:

  12. Search for Kay Metcalfe in:

  13. Search for Catherine Murdoch-Davis in:

  14. Search for Mary Ray in:

  15. Search for Marlène Rio in:

  16. Search for Sarah Smithson in:

  17. Search for John Tolmie in:

  18. Search for Peter Turnpenny in:

  19. Search for Bregje van Bon in:

  20. Search for Dagmar Wieczorek in:

  21. Search for Ruth Newbury-Ecob in:

Competing interests

The authors declare no conflict of interest.

Corresponding author

Correspondence to Ruth Newbury-Ecob.