See the published version of this article at Orphanet Journal of Rare Disease.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
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Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
Ravi Savarirayan
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute
Corresponding Author
ORCiD: https://orcid.org/0000-0002-5105-8427
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Orphanet Journal of Rare Disease.
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.
Keywords
skeletal dysplasia, craniofacial, best practice, otolaryngology
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CURRENT STATUS: Published
Version 2
Posted 05 Jan, 2021
Published
On 14 Jan, 2021
No community comments so far
Editorial decision: Accept
On 03 Jan, 2021
Editor assigned
On 19 Dec, 2020
Submission checks complete
On 19 Dec, 2020
Editor invited
On 19 Dec, 2020
No comments provided
Editorial decision: Minor revision
On 22 Nov, 2020
Review #2 received
Received 14 Nov, 2020
Reviewer #2 agreed
On 28 Oct, 2020
Reviewers invited
Invitations sent on 18 Aug, 2020
Reviewer #1 agreed
On 18 Aug, 2020
Review #1 received
Received 18 Aug, 2020
First submitted
On 17 Aug, 2020
Editor assigned
On 17 Aug, 2020
Submission checks complete
On 16 Aug, 2020
Editor invited
On 16 Aug, 2020
Metrics
Comments: 0
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Subject Areas
Internal Medicine
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This preprint is under consideration at Orphanet Journal of Rare Disease. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
Ravi Savarirayan
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute
Corresponding Author
ORCiD: https://orcid.org/0000-0002-5105-8427
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Version 2
Posted 05 Jan, 2021
Published
On 14 Jan, 2021
No community comments so far
Editorial decision: Accept
On 03 Jan, 2021
Editor assigned
On 19 Dec, 2020
Submission checks complete
On 19 Dec, 2020
Editor invited
On 19 Dec, 2020
No comments provided
Editorial decision: Minor revision
On 22 Nov, 2020
Review #2 received
Received 14 Nov, 2020
Reviewer #2 agreed
On 28 Oct, 2020
Reviewers invited
Invitations sent on 18 Aug, 2020
Reviewer #1 agreed
On 18 Aug, 2020
Review #1 received
Received 18 Aug, 2020
First submitted
On 17 Aug, 2020
Editor assigned
On 17 Aug, 2020
Submission checks complete
On 16 Aug, 2020
Editor invited
On 16 Aug, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Orphanet Journal of Rare Disease.
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.