Journal article

Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy

Klane K White, Viviana Bompadre, Michael J Goldberg, Michael B Bober, Jeffrey W Campbell, Tae-Joon Cho, Julie Hoover-Fong, William Mackenzie, Shawn E Parnell, Cathleen Raggio, David M Rapoport, Samantha A Spencer, Ravi Savarirayan

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY | Published : 2016

Abstract

Achondroplasia is the most common inherited disorder of bone growth (skeletal dysplasia). Despite this fact, consistent and evidence-based management approaches to recognized, life-threatening complications, such as foramen magnum stenosis, are lacking. This study aims to outline best practice, based on evidence and expert consensus, regarding the diagnosis, assessment, and management of foramen magnum stenosis in achondroplasia during infancy. A panel of 11 multidisciplinary international experts on skeletal dysplasia was invited to participate in a Delphi process. They were: 1) presented with a list of 26 indications and a thorough literature review, 2) given the opportunity to anonymously..

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