title: Shwachman-Diamond syndrome: diarrhea, no longer required?
abstract: Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond syndrome (SDS). We report 2 cases of genetically confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or malabsorption. Both patients had the classic heterozygous mutations c183_184 TA>CT and c.258+2 T>C in the Shwachman-Bodian-Diamond syndrome gene. Incomplete phenotypes may be more common than previously recognized in bone marrow failure syndromes; gastrointestinal symptoms should not be considered a prerequisite for SDS.
authors.affiliation: Department of Pediatrics, Golisano Children's Hospital, University of Rochester Medical Center, Rochester, NY, USA. jeffrey_andolina@urmc.rochester.edu
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Andolina
authors.forename: Colleen B
authors.initials: CB
authors.lastname: Morrison
authors.forename: Alexis A
authors.initials: AA
authors.lastname: Thompson
authors.forename: Sonali
authors.initials: S
authors.lastname: Chaudhury
authors.forename: A Kyle
authors.initials: AK
authors.lastname: Mack
authors.forename: Maria
authors.initials: M
authors.lastname: Proytcheva
authors.forename: Seth J
authors.initials: SJ
authors.lastname: Corey
mesh_terms: D000740:Anemia / Q000235:genetics; D001855:Bone Marrow Diseases / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D003967:Diarrhea / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000150:complications* / Q000235:genetics; D008297:Male; D009154:Mutation; D010198:Pancytopenia / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D000081003:Shwachman-Diamond Syndrome; D013933:Thumb / Q000002:abnormalities
chemical_list: D011506:Proteins; C470521:SBDS protein, human