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. 2020 Jun 24;15(1):161.
doi: 10.1186/s13023-020-01415-7.

Best practice guidelines for management of spinal disorders in skeletal dysplasia

Klane K White  1   2 , Michael B Bober  3 , Tae-Joon Cho  4 , Michael J Goldberg  5   6 , Julie Hoover-Fong  7 , Melita Irving  8 , Shawn E Kamps  9   10 , William G Mackenzie  11 , Cathleen Raggio  12 , Samantha A Spencer  13 , Viviana Bompadre  5 , Ravi Savarirayan  14 ; Skeletal Dysplasia Management Consortium
Affiliations

Best practice guidelines for management of spinal disorders in skeletal dysplasia

Klane K White et al. Orphanet J Rare Dis. .

Abstract

Background: 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.

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 care of spinal disorders in patients with skeletal dysplasia.

Results: Starting with 33 statements, the group a developed a list of 31 "best practice" guidelines.

Conclusions: The guidelines are presented and discussed to provide context for clinicians in their decision making in this often-challenging realm of care.

Keywords: Cervical instability; Kyphosis; Myelopathy; Scoliosis; Skeletal dysplasia; Spinal cord compression; Spine.

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Conflict of interest statement

One or more of the authors (KKW, JHF, CR, MBB) has received funding from BioMarin Pharmaceuticals, SOBI, Medlife, OI Foundation.

KKW has received benefits from BioMarin, Inc.; Ultragenyx Pharmaceuticals; Alexion Pharmaceuticals, Inc.; and QED Therapeutics.

JHF has received benefits and payments from Therachon AG and Ascendis Pharma.

WGM has received benefits from is BioMarin, Inc. and Little People of America.

MBB has received benefits and payments from BioMarin, Inc. Therachon, QED Therapeutics, Ascendis Pharma.

MJG has received payments from Guidepoint Global Network.

CR has received payments from BioMarin Pharmaceutical, Ascendis Pharma, Alexion Pharmaceuticals.

RS has received benefits and payments from pharmaceutical companies to support clinical trial work.

SEK has received benefits from the Skeletal Dysplasia Management Consortium.

References

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