Studies, Systematic Reviews/Meta-Analyses, Publications, and Presentations

Last Modified: 22 Apr 2017

For more information about any current studies, please contact FSRG.

Studies and Systematic Reviews/Meta-Analyses
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome (STOP-FSS). Last updated: 5 Apr 2017. ClinicalTrials.gov Identifier: NCT01144741 Available from: https://clinicaltrials.gov/ct2/show/NCT01144741

Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions (FSS-QLS). Last updated: 2 Apr 2017. ClinicalTrials.gov Identifier: NCT01307475 Available from: https://clinicaltrials.gov/ct2/show/NCT01307475
  • Note: Most study activities were incorporated into NCT01144741, but persons other than the person with the syndrome are no onger included.
Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions (FSS-EDICT I). Last updated: 14 Oct 2014. ClinicalTrials.gov Identifier: NCT01306994 Available from: https://clinicaltrials.gov/ct2/show/NCT01306994
  • Note: This study is on-hold.
Mikaela Poling, José Andrés Morales Corado, Robert Chamberlain. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes, and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. PROSPERO. 2015:CRD42015024740 Available from: http://www.crd.york.ac.uk/PROSPERO/display_record.asp?ID=CRD42015024740

Publications
Poling MI, Morales Corado JA, Chamberlain RL. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. Syst Rev. 2017;6(1):46. DOI: 10.1186/s13643-017-0444-4 PMID: 28264711 PMCID: PMC5339949

BACKGROUND: Freeman-Sheldon and Sheldon-Hall syndromes (FSS and SHS) and distal arthrogryposis types 1 and 3 (DA1 and DA3) are rare, often confused, congenital syndromes. Few studies exist. With reported diagnosis unreliable, it would be scientifically inappropriate to consider articles describing FSS, SHS, DA1, or DA3, unless diagnoses were independently verified, rendering conventional systematic review and meta-analysis methodology inappropriate and necessitating patient-level data analysis (PROSPERO: CRD42015024740).
METHODS/DESIGN: As part of a clinical practise guideline development process, we evaluate (1) diagnostic accuracy from 1938-2017, using the Stevenson criteria; (2) the most common physical findings, possible frequency clusters, and complications of physical findings amongst patients with FSS; and (3) treatment types and outcomes. All papers reporting diagnosis of FSS, SHS, DA1, and DA3 are included in searching PubMed and Google Scholar from December 2014 to July 2015 and again before final analyses. Patients with FSS are divided into four phenotype-defined sub-types; all patients are grouped by published diagnosis and medical speciality. Significance of physical findings and historical data is evaluated by chi-square. Associations of physical findings and history with diagnosis and treatment outcome are evaluated by Pearson correlation and linear regression analysis. Two-tailed alpha level of 0.05 is used throughout.
DISCUSSION: The need for detailed patient-level data extraction may limit the types of articles included and questions able to be answered. For treatment and psychosocial health outcomes, we anticipate enhanced difficulties, which may limit significance, power, and results' usability. We hope to outline knowledge gaps and prioritise areas for clinical investigation.
SYSTEMATIC REVIEW REGISTRATION NUMBER: CRD42015024740 Universal Trial Number: U1111-1172-4670.
KEYWORDS: Craniocarpotarsal dystrophy; Data analysis; Distal arthrogryposis type 1; Distal arthrogryposis type 3; Freeman-Sheldon syndrome; Meta-analysis; Review of reported cases; Sheldon-Hall syndrome; Systematic review; Whistling face syndrome

Poling MI, Dufresne CR, Chamberlain RL. Dr Ben Franklin and an unusual modern-day cure for recurrent pleuritis. Br J Gen Pract. 2017;67(654):32-33. DOI: 10.3399/bjgp17X688705PMID: 28034943 PMCID: PMC5198598 [Available on 2018-01-01]

[No abstract]

Portillo AL, Poling MI, McCormick RJ. 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. J Craniofac Surg. 2016;27(5):1273-6. DOI: 10.1097/SCS.0000000000002781 PMID: 27380584

The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon syndrome-associated complications of malignant hyperthermia, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up. Unlike many congenital craniofacial syndromes, which frequently involve life-long impairments, important implications exist for plastic surgeons to facilitate opportunities for patients to overcome functional limitations.

Chamberlain RL, Poling MI, Portillo AL, Morales A, Ramirez RR, McCormick RJ. Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. BMJ Case Rep. 2015 Oct 22;2015. pii: bcr2015212607. DOI: 10.1136/bcr-2015-212607PMID: 26494722

Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. While considered to be primarily a craniofacial syndrome, FSS is officially described as a myopathic distal arthrogryposis. Clinical diagnosis requires microstomia, whistling-face appearance (pursed lips), H-shaped chin dimpling, nasolabial folds, and two or more contractures of hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments are frequent findings. Differential diagnoses include: distal arthrogryposis type 1, 2B (Sheldon-Hall syndrome) and 3; arthrogryposis multiplex congenita and isolated non-syndromic deformities. Expression is frequently from new allelic variation. Important implications exist for geneticists, neonatologists, paediatricians, plastic surgeons and others to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well. Despite complexities and complications, early craniofacial surgery and aggressive physiotherapy for limb contractures can achieve excellent outcomes for patients.

McCormick RJ, Poling MI, Chamberlain RL. 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. BMJ Case Rep. 2015 Jul 15;2015. pii: bcr2015211338. DOI: 10.1136/bcr-2015-211338PMID: 26178231

Described is the use of bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome (FSS) in a 21-year-old woman presenting with uncorrectable equinovarus and multiple surgical sequela of the lower extremities. FSS is considered a type of myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling-face appearance, H-shaped chin dimpling, nasolabial folds, and multiple contractures of the hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments, are frequent findings. We highlight what we believe to be a unique approach to enhancing the patient's ability to ambulate and engage in physical activity, particularly critical determinates of wellness and long-term functional outcome in FSS, when the feet are non-correctable but not amputated. Important implications exist for physiatrists, other rehabilitation providers and surgeons regarding this likely under-diagnosed syndrome.

McCormick RJ, Poling MI, Portillo AL, Chamberlain RL. Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years. BMJ Case Rep. 2015 Jul 14;2015. pii: bcr2015210935. DOI: 10.1136/bcr-2015-210935PMID: 26174733

We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS.

McCormick RJ, Poling MI. Musical-grade tuning forks for emergent audiometric screening. BMJ Case Rep. 2015 Jun 11;2015. pii: bcr2015210662. DOI: 10.1136/bcr-2015-210662 PMID: 26065553 

We discuss our experience using high-quality, musical-grade tuning forks for emergent audiometric screening in a 22-year-old woman with sudden-onset unilateral hearing sensation loss. We present a framework for using this method when proper audiometric equipment is unavailable but where musical-grade tuning forks can be rapidly supplied.

McCormick RJ, Poling MI. Dental instruments: operating otoscope. Br Dent J. 2014;216(11):606. DOI: 10.1038/sj.bdj.2014.456 PMID: 24923916

[No abstract]

Presentations

Poling MI, Ramirez R. Distal arthrogryposis, type 2A: Freeman-Sheldon syndrome: Review, case presentation, and treatment protocols. Paediatric Residents' 2009 Noon Conference at Robert C. Byrd Health Sciences Centre, West Virginia University School of Medicine, Morgantown. 13 Dec. 2006.

Poling MI. Craniocarpotarsal Dysplasia (Freeman-Sheldon syndrome): A Comprehensive Case Study. Presented at: Appalachian Undergraduate Research and Creative Arts Conference, Davis & Elkins College, Elkins, WV. 23 Apr. 2005.

Poling MI. Craniocarpotarsal Dysplasia (Freeman-Sheldon syndrome): A Comprehensive Case Study. Presented at: Mid-Atlantic Undergraduate Research Conference, WVWC. 2 Apr. 2005.