Which specialist consultations are beneficial to patients with Shwachman-Diamond syndrome (SDS)?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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See the list below:

  • Pediatric gastroenterologist - For management of pancreatic insufficiency

  • Pediatric endocrinologist - For pancreatic insufficiency, short stature, and delayed puberty

  • Pediatric immunologist - For neutropenia, neutrophil migrational defects, and immunoglobulin deficiencies

  • Pediatric oncologist - For routine bone marrow aspirations, which are indicated for early detection of aplasia and lymphoproliferative and myeloproliferative malignancies

  • Pediatric infectious diseases specialist - To help treat unusual infections that may occur from neutropenia and a neutrophil migrational defect

  • Clinical geneticist - For parent counseling and chromosome studies

  • Pediatric orthopedic surgeon - To manage skeletal abnormalities (Special attention is required for metaphyseal dysplasia because of the risk of significant deformities, particularly in knees and hips.) Surgical intervention is considered only if abnormalities poise problems with ambulation. [63]

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