Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence

BMJ Case Rep. 2012 Nov 1:2012:bcr2012007305. doi: 10.1136/bcr-2012-007305.

Abstract

Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome, characterised by neutropenia, exocrine pancreatic dysfunction and often skeletal abnormalities. To date, and to our knowledge, we report a novel genetic mutation in SDS that, we believe, is associated with minimal consequence,and report the fertility and pregnancy in this individual.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow / pathology*
  • Bone Marrow Diseases / complications*
  • Bone Marrow Diseases / genetics*
  • Bone and Bones / abnormalities
  • Exocrine Pancreatic Insufficiency / complications*
  • Exocrine Pancreatic Insufficiency / genetics*
  • Female
  • Fertility*
  • Humans
  • Lipomatosis / complications*
  • Lipomatosis / genetics*
  • Mutation*
  • Neutropenia / genetics
  • Pancreatic Diseases / genetics
  • Pregnancy
  • Pregnancy Complications / genetics*
  • Shwachman-Diamond Syndrome