4.5 Article

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Journal

ORPHANET JOURNAL OF RARE DISEASES
Volume 16, Issue 1, Pages -

Publisher

BMC
DOI: 10.1186/s13023-021-01678-8

Keywords

Skeletal dysplasia; Craniofacial; Best practice; Otolaryngology

Funding

  1. BioMarin, Inc.
  2. Ultragenyx, Inc.
  3. Ascendis Inc.
  4. QED, Inc.

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The Delphi method was used to develop best practice guidelines for managing the craniofacial aspects of patients with skeletal dysplasia. After comprehensive literature review and discussion, a list of 22 best practice guidelines was generated to provide context and assistance for clinicians in decision making.
Background Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making. Methods Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, best practice guidelines in the management of craniofacial aspects of these patients. Results After a comprehensive literature review, 23 initial statements were generated and critically discussed, with subsequent development of a list of 22 best practice guidelines after a second round voting. Conclusions The guidelines are presented and discussed to provide context and assistance for clinicians in their decision making in this important and challenging component of care for patients with skeletal dysplasia, in order standardize care and improve outcomes.

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