[Shwachman-Diamond syndrome. A case report].
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.
Macipe Costa
R Maria
RM
Sección de Gastroenterología, Hospital Universitario Miguel Servet, Zaragoza, España.
Javierre Miranda
E
E
Lou Francés
Maria G
MG
Heredia González
S
S
Calvo Martín
Maria T
MT
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