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Shwachman-Bodian-Diamond syndrome

Pathology: 1) pancreatic insufficiency resulting in malabsorption 2) neutropenia with defective neutrophil chemotaxis 3) skeletal abnormalities 4) aplastic anemia Genetics: - autosomal recessive - mutations in the SBDS gene Clinical manifestations: 1) sinusitis 2) bronchitis 3) short stature Laboratory: 1) complete blood count: anemia 2) reticulocyte count low (aplastic anemia) 3) bone marrow biopsy Radiology: -> metaphyseal flaring of long bones

Related

Shwachman-Bodian-Diamond syndrome protein; ribosome maturation protein SBDS (SBDS)

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 260400

References

  1. Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999
  2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 672
  3. OMIM :accession 260400