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Shwachman–Diamond syndrome: UK perspective
  1. G W Hall1,
  2. P Dale2,
  3. J A Dodge3
  1. 1Paediatric Haematology/Oncology Unit, John Radcliffe Hospital, Headington, Oxford, UK
  2. 2Department of Paediatrics, Royal Gwent Hospital, Newport, Gwent, UK
  3. 3Department of Child Health, University of Wales Swansea, Singleton Hospital, Swansea, UK
  1. Correspondence to:
    Dr G W Hall
    Paediatric Haematology/Oncology Unit, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK; georgina.hall{at}paediatrics.ox.ac.uk

Abstract

So much has been added to our knowledge of Shwachman–Diamond syndrome (SDS) since it was last reviewed in this journal some 25 years ago,1 that there is now an urgent need to bring the condition to the attention of a new generation of paediatricians. SDS, although a rare autosomal recessive disorder, demands wide attention because it features in the differential diagnosis of a number of important childhood diseases. It can be diagnosed in children of all ages, or in adults. SDS most commonly presents in infancy with features of exocrine pancreatic insufficiency, bone marrow dysfunction, and short stature.

  • bone marrow failure
  • SBDS gene
  • exocrine pancreatic insufficiency
  • Shwachman-Diamond syndrome

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Footnotes

  • Competing interests: none declared

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