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Genet Med. 2019 Jan 30. doi: 10.1038/s41436-019-0446-9. [Epub ahead of print]

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Author information

1
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, VIC, Parkville, Australia. ravi.savarirayan@vcgs.org.au.
2
Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA, USA.
3
Division of Genetics, Nemours A.I. duPont Hospital for Children, Wilmington, DE, USA.
4
Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, South Korea.
5
Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
6
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
7
Department of Clinical Genetics, Guy's and St Thomas NHS, London, UK.
8
Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
9
Department of Orthopedic Surgery, Nemours A.I. duPont Hospital for Children, Wilmington, DE, USA.
10
Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA.
11
Department of Orthopedic Surgery, Boston Children's Hospital, Boston, MA, USA.

Abstract

PURPOSE:

Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes.

METHODS:

A panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. Those recommendations with more than 80% agreement were considered as consensual.

RESULTS:

After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%).

CONCLUSIONS:

Consensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias.

KEYWORDS:

Delphi process; best practice guidelines; management; skeletal dysplasia; type II collagen disorder

PMID:
30696995
DOI:
10.1038/s41436-019-0446-9

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