Shwachman-Diamond syndrome: UK perspective.
So much has been added to our knowledge of Shwachman-Diamond syndrome (SDS) since it was last reviewed in this journal some 25 years ago, that there is now an urgent need to bring the condition to the attention of a new generation of paediatricians. SDS, although a rare autosomal recessive disorder, demands wide attention because it features in the differential diagnosis of a number of important childhood diseases. It can be diagnosed in children of all ages, or in adults. SDS most commonly presents in infancy with features of exocrine pancreatic insufficiency, bone marrow dysfunction, and short stature.
Hall
G W
GW
Paediatric Haematology/Oncology Unit, John Radcliffe Hospital, Headington, Oxford, UK. georgina.hall@paediatrics.ox.ac.uk
Dale
P
P
Dodge
J A
JA
D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000235:genetics; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D011506:Proteins / Q000235:genetics; D011544:Pseudogenes; D012042:Registries; D013577:Syndrome; D006113:United Kingdom
D011506:Proteins; C470521:SBDS protein, human