Best Practice Guidelines for Management of Spinal Disorders in Skeletal Dysplasia

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2020 Jun 26

PMID 32580780

Citations 5

Authors

Klane K White

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

Ravi Savarirayan

Affiliations

Soon will be listed here.

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.

Citing Articles

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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.

Nahm N, Mackenzie W, Mackenzie W, Gough E, Hashmi S, Hecht J Orphanet J Rare Dis. 2023; 18(1):139.

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Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.

Fredwall S, Linge J, de Vries O, Dahlqvist Leinhard O, Eggesbo H, Weedon-Fekjaer H Orphanet J Rare Dis. 2023; 18(1):35.

PMID: 36814258 PMC: 9945720. DOI: 10.1186/s13023-023-02641-5.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela W Nat Rev Endocrinol. 2021; 18(3):173-189.

PMID: 34837063 DOI: 10.1038/s41574-021-00595-x.

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