Best practice guidelines for management of spinal disorders in skeletal dysplasia

Orphanet Journal of Rare Diseases - Tập 15 - Trang 1-11 - 2020
Klane K. White1,2, Michael B. Bober3, Tae-Joon Cho4, Michael J. Goldberg1,2, Julie Hoover-Fong5, Melita Irving6, Shawn E. Kamps7,8, William G. Mackenzie9, Cathleen Raggio10, Samantha A. Spencer11, Viviana Bompadre1, Ravi Savarirayan12
1Department of Orthopedics and Sports Medicine, Seattle Children’s Hospital, Seattle, USA
2Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, USA
3Division of Orthogenetics, Nemours/ A.I. duPont Hospital for Children, Wilmington, USA
4Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital, Seoul, South Korea
5McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, USA
6Department of Clinical Genetics Guy’s and St Thomas NHS, London, UK
7Department of Radiology, Seattle Children’s Hospital, Seattle, USA
8Department of Radiology, University of Washington, Seattle, USA
9Department of Orthopedic Surgery, Nemours/ A.I. duPont Hospital for Children, Wilmington, USA
10Department of Orthopedic Surgery, Hospital for Special Surgery, New York, USA
11Department of Orthopedic Surgery, Boston Children’s Hospital, Boston, USA
12Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, University of Melbourne, Parkville, Australia

Tóm tắt

Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single institution case series, is sparse in regard to well-designed studies to support clinical decision making in these situations. 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 care of spinal disorders in patients with skeletal dysplasia. Starting with 33 statements, the group a developed a list of 31 “best practice” guidelines. The guidelines are presented and discussed to provide context for clinicians in their decision making in this often-challenging realm of care.

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