title: [Shwachman-Diamond syndrome. A case report].
abstract: Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. We describe the clinical characteristics, laboratory data, and treatment in a 14-month-old boy diagnosed with this syndrome in our unit.
authors.affiliation: Sección de Gastroenterología, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: R Maria
authors.initials: RM
authors.lastname: Macipe Costa
authors.forename: E
authors.initials: E
authors.lastname: Javierre Miranda
authors.forename: Maria G
authors.initials: MG
authors.lastname: Lou Francés
authors.forename: S
authors.initials: S
authors.lastname: Heredia González
authors.forename: Maria T
authors.initials: MT
authors.lastname: Calvo Martín
mesh_terms: D001855:Bone Marrow Diseases / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D013577:Syndrome