Journal article

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

Ravi Savarirayan, Viviana Bompadre, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha S Spencer, Klane K White

Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2019

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 ..

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