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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; 2015BC

Abstract

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.

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.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

26174733

Citation

McCormick, Rodger J., et al. "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 Reports, vol. 2015, 2015.
McCormick RJ, Poling MI, Portillo AL, et al. 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;2015.
McCormick, R. J., Poling, M. I., Portillo, A. L., & Chamberlain, R. L. (2015). 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 Reports, 2015, doi:10.1136/bcr-2015-210935.
McCormick RJ, et al. 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 PubMed PMID: 26174733.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - McCormick,Rodger J, AU - Poling,Mikaela I, AU - Portillo,Augusto L, AU - Chamberlain,Robert L, Y1 - 2015/07/14/ PY - 2015/7/16/entrez PY - 2015/7/16/pubmed PY - 2016/4/5/medline JF - BMJ case reports JO - BMJ Case Rep VL - 2015 N2 - 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. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/26174733/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_ L2 - https://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=26174733 DB - PRIME DP - Unbound Medicine ER -