Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia

Pediatr Radiol. 2015 Jul;45(7):1066-71. doi: 10.1007/s00247-014-3231-6. Epub 2014 Nov 23.

Abstract

Shwachman-Bodian-Diamond syndrome (OMIM 260400) was identified in 1964 by pediatricians Harry Shwachman, a leader in cystic fibrosis, and Louis K. Diamond, a hematologist, along with pediatrician and morbid anatomist Martin Bodian. Initially the syndrome's clinical presentation included exocrine pancreatic insufficiency (lipomatous replacement of the pancreas) and neutropenia. In 1967 skeletal changes of metaphyseal chondrodysplasia were also described, completing the triad of findings; these abnormalities are present in all affected children and should be viewed as an integral feature of the syndrome, also called Shwachman-Diamond syndrome.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Bone Marrow Diseases / complications*
  • Bone Marrow Diseases / diagnostic imaging*
  • Child
  • Child, Preschool
  • Exocrine Pancreatic Insufficiency / complications*
  • Exocrine Pancreatic Insufficiency / diagnostic imaging
  • Female
  • Humans
  • Infant
  • Lipomatosis / complications*
  • Lipomatosis / diagnostic imaging*
  • Male
  • Neutropenia / complications*
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / diagnostic imaging*
  • Portraits as Topic
  • Shwachman-Diamond Syndrome
  • Syndrome
  • Tomography, X-Ray Computed

Supplementary concepts

  • Pyle disease