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

Abstract

AbstractFreeman–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.