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

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.

• Authors: Gillian A Horne, Timothy Chevassut
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2012 (Nov 01 2012) ISSN: 1757-790X [Electronic] England
• PMID: 23125299 (Publication Type: Case Reports, Journal Article)

Topics

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