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J Pediatr Genet 2020; 09(03): 158-163
DOI: 10.1055/s-0040-1710339
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

Mikaela I. Poling 
1   Private Practice, Fairfax, Virginia, United States
,
Craig R. Dufresne 
1   Private Practice, Fairfax, Virginia, United States
2   Department of Surgery, Georgetown University, Washington, District of Columbia, United States
,
Rodger J. McCormick 
3   Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, United States
› Author Affiliations Funding This article was sponsored by Freeman-Sheldon Research Group, Inc.
Further Information

Publication History

05 January 2020

23 March 2020

Publication Date:
07 May 2020 (online)

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Abstract

Freeman–Burian syndrome, formerly Freeman–Sheldon syndrome, is a rare congenital complex myopathic craniofacial syndrome that frequently involves extremity joint deformities, abnormal spinal curvatures, and chest wall mechanical problems that, together with spinal deformities, impair pulmonary function. As part of a clinical practice guideline development, we evaluated 19 rehabilitation-related articles from our formal systematic review, and from these and our experience, we describe rehabilitation considerations. Research in this area has widespread methodologic problems. While many challenges are present, much can be done to afford these patients a good quality of life through careful planning.

Keywords

Freeman–Burian syndrome - Freeman–Sheldon syndrome - whistling face syndrome - distal arthrogryposis - craniofacial deformities - limb deformities - talipes equinovarus

Note

An early draft of this article was presented by MIP to the Pediatric Residents' Noon Conference; Robert C. Byrd Health Sciences Center, West Virginia University School of Medicine, Morgantown, West Virginia, United States, on December 13, 2006.


 

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