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Revisiting the Many Names of Freeman-Sheldon Syndrome.
J Craniofac Surg 2018; 29(8):2176-2178JC

Abstract

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.

Authors+Show Affiliations

Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, WV.Department of Surgery, Georgetown University, Washington, DC.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30400128

Citation

Poling, Mikaela I., and Craig R. Dufresne. "Revisiting the Many Names of Freeman-Sheldon Syndrome." The Journal of Craniofacial Surgery, vol. 29, no. 8, 2018, pp. 2176-2178.
Poling MI, Dufresne CR. Revisiting the Many Names of Freeman-Sheldon Syndrome. J Craniofac Surg. 2018;29(8):2176-2178.
Poling, M. I., & Dufresne, C. R. (2018). Revisiting the Many Names of Freeman-Sheldon Syndrome. The Journal of Craniofacial Surgery, 29(8), pp. 2176-2178. doi:10.1097/SCS.0000000000004802.
Poling MI, Dufresne CR. Revisiting the Many Names of Freeman-Sheldon Syndrome. J Craniofac Surg. 2018;29(8):2176-2178. PubMed PMID: 30400128.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Revisiting the Many Names of Freeman-Sheldon Syndrome. AU - Poling,Mikaela I, AU - Dufresne,Craig R, PY - 2018/11/8/entrez PY - 2018/11/8/pubmed PY - 2018/12/21/medline SP - 2176 EP - 2178 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 29 IS - 8 N2 - 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. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/30400128/Revisiting_the_Many_Names_of_Freeman_Sheldon_Syndrome_ L2 - http://Insights.ovid.com/pubmed?pmid=30400128 DB - PRIME DP - Unbound Medicine ER -