Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
Ravi Savarirayan, David E Tunkel, Laura M Sterni, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha A Spencer, Viviana Bompadre, Klane K White
Orphanet Journal of Rare Diseases | BMC | Published : 2021
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 lis..View full abstract
This study was funded through unrestricted grants by BioMarin, Inc.; Ultragenyx, Inc.; Ascendis Inc. and QED, Inc.