| Literature DB >> 32714615 |
Mikaela I Poling1, Craig R Dufresne1,2, Rodger J McCormick3.
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. © Thieme Medical Publishers.Entities:
Keywords: Freeman–Burian syndrome; Freeman–Sheldon syndrome; craniofacial deformities; distal arthrogryposis; limb deformities; talipes equinovarus; whistling face syndrome
Year: 2020 PMID: 32714615 PMCID: PMC7375843 DOI: 10.1055/s-0040-1710339
Source DB: PubMed Journal: J Pediatr Genet ISSN: 2146-460X