Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Author:

Savarirayan RaviORCID, ,Tunkel David E.,Sterni Laura M.,Bober Michael B.,Cho Tae-Joon,Goldberg Michael J.,Hoover-Fong Julie,Irving Melita,Kamps Shawn E.,Mackenzie William G.,Raggio Cathleen,Spencer Samantha A.,Bompadre Viviana,White Klane K.

Abstract

AbstractBackgroundRecognition 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.MethodsUsing 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.ResultsAfter 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.ConclusionsThe 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.

Funder

BioMarin Pharmaceutical

Ascendis, Inc

Ultragenyx Pharmaceutical

QED Therapeutics

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

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