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Review
. 2006 Jun;91(6):521-4.
doi: 10.1136/adc.2003.046151.

Shwachman-Diamond syndrome: UK perspective

G W Hall  1 , P Dale, J A Dodge
Affiliations
Review

Shwachman-Diamond syndrome: UK perspective

G W Hall et al. Arch Dis Child. 2006 Jun.

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, 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.

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Conflict of interest statement

Competing interests: none declared

References

    1. Aggett P J, Cavanagh N P, Matthew D J.et al Shwachman's syndrome. A review of 21 cases. Arch Dis Child 198055331–347. - PMC - PubMed
    1. Boocock G R B, Morrison J A, Popvic M.et al Mutations in SBDS are associated with Shwachman‐Diamond syndrome. Nat Genet 20033397–101. - PubMed
    1. Nezelof C, Watchi M. L'hypoplasie congenitale lipomateuse du pancreas exocrine chez l'enfant (Deux observations et revue de la literature). Arch Franc de pediat 1961181135–1172. - PubMed
    1. Shwachman H, Diamond L K, Oski F A.et al The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 196465645–663. - PubMed
    1. Bodian M, Sheldon W, Lightwood R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr 196453282–293. - PubMed