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Shwachman-Diamond syndrome

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A rare disorder characterized by exocrine pancreatic insufficiency (the pancreas being replaced by adipose tissue), metaphyseal dysostosis, and a congenital form of neutropenia (+/- pancytopenia). Clinical features include short stature, narrowing of the rib cage due to involvement of the ribs, musculoskeletal anomalies, and recurrent infections. Onset of symptoms in infancy. Next to cystic fibrosis, it is the most common cause of pancreatic insufficiency in children. Inheritance is autosomal recessive.

Bibliography

  • Shwachman, et al:
    Pancreatic insufficiency and bone marrow dysfunction. A new clinical entity.
    Journal of Pediatrics, St. Louis, 1963, 63: 835-837.
  • H. Shwachman, L. K. Diamond, F. A. Oski, & K. T. Khaw:
    The syndrome of pancreatic insufficiency and bone marrow dysfunction.
    The Journal of Pediatrics, St. Louis, 1964, 65: 645-663.

  • M. Bodian, Sir Wilfrid Perce Henry Sheldon (1901-1983), Reginald Lightwood (1898-1985):
    Congenital hypoplasia of the exocrine pancreas. Acta paediatrica, Stockholm, 1964, 53: 282-293.
  • V. Burke, J. H. Colebatch, C. M. Anderson, M. J. Simons:
    Association of pancreatic insufficiency and chronic neutropenia in childhood.
    Archives of Disease in Childhood, London 1967, 42: 147-57.

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