Ravi Savarirayan1,2, David E Tunkel3, Laura M Sterni4, Michael B Bober5, Tae-Joon Cho6, Michael J Goldberg7, Julie Hoover-Fong8, Melita Irving9, Shawn E Kamps7, William G Mackenzie10, Cathleen Raggio11, Samantha A Spencer12, Viviana Bompadre7, Klane K White7. 1. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, VIC, 3052, Australia. ravi.savarirayan@vcgs.org.au. 2. Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA. ravi.savarirayan@vcgs.org.au. 3. Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 4. Eudowwod Division of Pediatric Respiratory Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5. Division of Orthogenetics - Nemours/ A.I. duPont Hospital for Children, Wilmington, DE, USA. 6. Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, South Korea. 7. Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA. 8. McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. 9. Department of Clinical Genetics Guy's, St Thomas NHS, London, UK. 10. Department of Orthopedic Surgery - Nemours/ A.I. duPont Hospital for Children, Wilmington, DE, USA. 11. Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA. 12. Department of Orthopedic Surgery, Boston Children's Hospital, Boston, MA, USA.
Abstract
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.
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.
Entities:
Keywords:
Best practice; Craniofacial; Otolaryngology; Skeletal dysplasia
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