Best practice guidelines for management of spinal disorders in skeletal dysplasia

• Published in: Orphanet journal of rare diseases Vol. 15; no. 1; pp. 1 - 161
• Main Authors: White, Klane K, 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, Savarirayan, Ravi
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 24.06.2020; BioMed Central; BMC
• Subjects: Achondroplasia; Best practice; Bone dysplasia; Care and treatment; Cervical instability; Clinical decision making; Clinical practice guidelines; Collagen; Decision making; Disease; Dysplasia; Kyphosis; Literature reviews; Medical research; Pediatrics; Practice guidelines (Medicine); Rare diseases; Scoliosis; Skeletal dysplasia; Skeleton; Spinal cord; Spinal cord compression; Spine; Surgeons; Vertebrae
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-020-01415-7

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.