{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:08:51Z","timestamp":1756382931360,"version":"3.44.0"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,6,27]]},"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.1136\/bcr-2015-211338","type":"journal-article","created":{"date-parts":[[2015,7,15]],"date-time":"2015-07-15T11:18:39Z","timestamp":1436959119000},"page":"bcr2015211338","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"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"],"prefix":"10.1136","volume":"2015","author":[{"given":"Rodger J","family":"McCormick","sequence":"first","affiliation":[{"name":"Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3134-1580","authenticated-orcid":false,"given":"Mikaela I","family":"Poling","sequence":"additional","affiliation":[{"name":"Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L","family":"Chamberlain","sequence":"additional","affiliation":[{"name":"Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,7,15]]},"reference":[{"key":"2025082801341182000_2015.jul15_2.bcr2015211338.1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.13.75.277"},{"key":"2025082801341182000_2015.jul15_2.bcr2015211338.2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-1219"},{"key":"2025082801341182000_2015.jul15_2.bcr2015211338.3","unstructured":"McKusick VA . Online Mendelian Inheritance in Man, OMIM\u2122. Johns Hopkins University: Baltimore. MIM Number: #193700. Retrieved: 11 April 2015. http:\/\/omim.org"},{"key":"2025082801341182000_2015.jul15_2.bcr2015211338.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"},{"key":"2025082801341182000_2015.jul15_2.bcr2015211338.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36762"},{"key":"2025082801341182000_2015.jul15_2.bcr2015211338.6","first-page":"342","article-title":"[Dislocation of patella also a symptom of other diseases or consequence of local primary alteration of the scelet (author's transl)] [German]","volume":"114","author":"R\u00fctt","year":"1976","journal-title":"Z Orthop Ihre Grenzgeb"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2015-211338","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:34:16Z","timestamp":1756370056000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2015-211338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,15]]},"references-count":6,"alternative-id":["10.1136\/bcr-2015-211338"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2015-211338","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2015,7,15]]}}}