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Shwachman syndrome

Pronunciation: shwahk'man

Definition: 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.

Synonym(s): Shwachman-Diamond syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.