Shwachman syndrome

[MIM*260400] an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes with radiographic findings of metaphysial flaring of long bones. SYN: Shwachman-Diamond syndrome.

Chemwatch
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