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Revisiting the Many Names of Freeman–Sheldon Syndrome

Poling, Mikaela I., BA*; Dufresne, Craig R., MD

doi: 10.1097/SCS.0000000000004802
Clinical Studies

While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman–Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis. Having previously provided evidence for FSS being a complex myopathic craniofacial syndrome with extra-craniofacial features in most patients, the rationale for revising the FSS eponym and supplanting the current official designation with a new one was based on considerations for educational usefulness, historical accuracy, communication fluency, and nosologic clarity underpinned by genetic, pathologic, and operative experience and outcomes.

*Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, WV

Department of Surgery, Georgetown University, Washington, DC.

Address correspondence and reprint requests to Mikaela I. Poling, BA, 6670 Old Elkins Road, Buckhannon, WV 26201; E-mail: poling_mi@fsrgroup.org

Received 25 January, 2018

Accepted 3 June, 2018

The authors report no conflicts of interest.

© 2018 by Mutaz B. Habal, MD.