title: 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.
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.affiliation: Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA.
authors.forename: Rodger J
authors.initials: RJ
authors.lastname: McCormick
authors.affiliation: Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA.
authors.forename: Mikaela I
authors.identifier: http://orcid.org/0000-0003-3134-1580
authors.initials: MI
authors.lastname: Poling
authors.affiliation: Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA.
authors.forename: Robert L
authors.initials: RL
authors.lastname: Chamberlain
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001176:Arthrogryposis / Q000209:etiology; D001186:Artificial Limbs; D003025:Clubfoot / Q000209:etiology; D003286:Contracture; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000473:pathology; D005260:Female; D005528:Foot; D006801:Humans; D010329:Patella; D017847:Patellar Ligament; D019736:Prostheses and Implants; D013577:Syndrome; D016138:Walking; D055815:Young Adult