Literature DB >> 32714615

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

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


  36 in total

1.  Revisiting the Many Names of Freeman-Sheldon Syndrome.

Authors:  Mikaela I Poling; Craig R Dufresne
Journal:  J Craniofac Surg       Date:  2018-11       Impact factor: 1.046

2.  Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus.

Authors:  Rodger J McCormick; Mikaela I Poling; Robert L Chamberlain
Journal:  BMJ Case Rep       Date:  2015-07-15

3.  Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Authors:  Anita E Beck; Margaret J McMillin; Heidi I S Gildersleeve; Kathryn M B Shively; Andy Tang; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2014-09-25       Impact factor: 2.802

4.  Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment.

Authors:  Mikaela I Poling; Craig R Dufresne; Augusto L Portillo
Journal:  J Craniofac Surg       Date:  2019 Nov-Dec       Impact factor: 1.046

5.  Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Authors:  Reha M Toydemir; Ann Rutherford; Frank G Whitby; Lynn B Jorde; John C Carey; Michael J Bamshad
Journal:  Nat Genet       Date:  2006-04-16       Impact factor: 38.330

6.  Anesthetic management of a patient with Freeman-Sheldon syndrome: case report.

Authors:  Samia Madi-Jebara; Christine El-Hajj; Dolly Jawish; Eliane Ayoub; Khalil Kharrat; Marie-Claire Antakly
Journal:  J Clin Anesth       Date:  2007-09       Impact factor: 9.452

7.  Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis.

Authors:  Stephanie Boehm; Noppachart Limpaphayom; Farhang Alaee; Marc F Sinclair; Matthew B Dobbs
Journal:  J Bone Joint Surg Am       Date:  2008-07       Impact factor: 5.284

8.  Clinical characteristics and natural history of Freeman-Sheldon syndrome.

Authors:  David A Stevenson; John C Carey; Janice Palumbos; Ann Rutherford; Joyce Dolcourt; Michael J Bamshad
Journal:  Pediatrics       Date:  2006-03       Impact factor: 7.124

9.  Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome.

Authors:  Mikaela I Poling; Craig R Dufresne; Robert L Chamberlain
Journal:  J Craniofac Surg       Date:  2020-06       Impact factor: 1.046

10.  Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction.

Authors:  Augusto L Portillo; Mikaela I Poling; Rodger J McCormick
Journal:  J Craniofac Surg       Date:  2016-07       Impact factor: 1.046

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