Article Text

Download PDFPDF
Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence
  1. Gillian A Horne1,
  2. Timothy Chevassut2
  1. 1Medical Research Building, Brighton and Sussex Medical School, Falmer, UK
  2. 2Department of Haematology, Brighton and Sussex University Hospital, Brighton, UK
  1. Correspondence to Dr Gillian A Horne, gillianhorne{at}


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.

View Full Text

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.