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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; 2015BC

Abstract

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.

Authors+Show Affiliations

Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA.Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA.Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26178231

Citation

McCormick, Rodger J., et al. "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 Reports, vol. 2015, 2015.
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;2015.
McCormick, R. J., Poling, M. I., & Chamberlain, R. L. (2015). 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 Reports, 2015. https://doi.org/10.1136/bcr-2015-211338
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 PubMed PMID: 26178231.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - McCormick,Rodger J, AU - Poling,Mikaela I, AU - Chamberlain,Robert L, Y1 - 2015/07/15/ PY - 2015/7/17/entrez PY - 2015/7/17/pubmed PY - 2016/4/12/medline JF - BMJ case reports JO - BMJ Case Rep VL - 2015 N2 - 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. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/26178231/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_ L2 - https://casereports.bmj.com/lookup/pmidlookup?view=long&pmid=26178231 DB - PRIME DP - Unbound Medicine ER -