title: Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
abstract: OBJECTIVE
  To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis.
  
  
  METHODS
  We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic Shwachman-Bodian-Diamond syndrome mutations confirming the diagnosis of SDS were available for 37 patients.
  
  
  RESULTS
  Neutropenia was the most common hematologic abnormality at presentation (30/37, 81%); however, only 51% (19/37) of patients presented with the classic combination of neutropenia and steatorrhea. Absence of pancreatic lipomatosis on ultrasound or computed tomography scan, normal fecal elastase levels, and normal skeletal survey do not rule out the diagnosis of SDS. SDS was diagnosed in 2 asymptomatic siblings of SDS probands. Twenty-four of 37 patients (65%) had congenital anomalies.
  
  
  CONCLUSIONS
  Our cohort reveals a broad range of clinical presentation for SDS. Clues to the underlying diagnosis of SDS included cytopenias with a hypocellular marrow, congenital anomalies, family history, and myelodysplasia with clonal abnormalities frequently found in SDS. Reliance on classic clinical criteria for SDS would miss or delay diagnosis of a significant subset of patients with SDS.
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Kasiani C
authors.initials: KC
authors.lastname: Myers
authors.affiliation: Department of Medicine, University of Washington, The Severe Chronic Neutropenia International Registry, Seattle, WA.
authors.forename: Audrey Anna
authors.initials: AA
authors.lastname: Bolyard
authors.affiliation: Department of Medicine, University of Washington, Seattle, WA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Otto
authors.affiliation: Puget Sound Blood Center, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA; Seattle Children's Hospital, Seattle, WA.
authors.forename: Trisha E
authors.initials: TE
authors.lastname: Wong
authors.affiliation: Department of Medicine, University of Washington, Seattle, WA.
authors.forename: Amanda T
authors.initials: AT
authors.lastname: Jones
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Richard E
authors.initials: RE
authors.lastname: Harris
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Stella M
authors.initials: SM
authors.lastname: Davies
authors.affiliation: Department of Medicine, University of Washington, Seattle, WA.
authors.forename: David C
authors.initials: DC
authors.lastname: Dale
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, WA; Seattle Children's Hospital, Seattle, WA; Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA. Electronic address: ashimamu@fhcrc.org.
authors.forename: Akiko
authors.initials: A
authors.lastname: Shimamura
mesh_terms: D000293:Adolescent; D001855:Bone Marrow Diseases / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000175:diagnosis*; D008297:Male; D009656:North America; D012042:Registries; D012189:Retrospective Studies; D000081003:Shwachman-Diamond Syndrome