Shwachman disease
Shwachman-Diamond syndrome
Synopsis
exocrine pancreatic insufficiency
short stature
bone marrow dysfunction
metaphyseal dysostosis
epiphyseal dysplasia
immune dysfunction
liver disease
growth failure
renal tubular defects
insulin-dependent diabetes mellitus
psychomotor retardation
hematological disorders
- neutropenia
- anemia
- raised fetal hemoglobin (HbF) levels
- thrombocytopenia
- impaired neutrophil chemotaxis
- aplastic anemia
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