[Shwachman-Diamond syndrome. A case report]. / Síndrome de Shwachman-Diamond.

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.