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      Head First, Not Feet First : Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition

      Author(s): 1 , 2
      Publication date Created:
      Publication date (Electronic):
      Journal: The Cleft Palate-Craniofacial Journal
      Publisher: SAGE Publications

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          Abstract

          The historical and clinical basis for classification of Freeman-Sheldon syndrome as a craniofacial syndrome and explanation of the rationale underlying this decision is provided. Correctly classifying the condition will avoid confusion and may help to clarify the vernacular employed and eventually aid in improving diagnosis.

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          Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

          Reha M Toydemir, Ann Rutherford, Frank G Whitby … (2006)
          The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis. FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype. A structure-function analysis shows that nearly all of the MYH3 mutations are predicted to interfere with myosin's catalytic activity. These results add to the growing body of evidence showing that congenital contractures are a shared outcome of prenatal defects in myofiber force production. Elucidation of the genetic basis of these syndromes redefines congenital contractures as unique defects of the sarcomere and provides insights about what has heretofore been a poorly understood group of disorders.
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            A revised and extended classification of the distal arthrogryposes.

            M Bamshad, L Jorde, J Carey (1996)
            Since the group of disorders known as the distal arthrogryposes (DAs) were defined, additional disorders characterized by multiple congenital contractures of the distal limbs were described, and the distribution of phenotypic findings in the DAs has been expanded. The breadth of disorders labeled as DAs has diminished the usefulness of the DA classification. We propose a strict definition of DA and diagnostic criteria for DA disorders. Subsequently, we use these standards and propose a revised classification of discrete conditions that should be labeled DAs. Optimally, this serves as a framework for a DA classification based on underlying molecular and physiologic abnormalities.
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              Clinical characteristics and natural history of Freeman-Sheldon syndrome.

              Joyce Dolcourt, Janice Palumbos, Chelsea J. Carey … (2006)
              Freeman-Sheldon syndrome (FSS) is a rare, multiple congenital contracture syndrome that is nonetheless relatively well-known, because affected children have a striking appearance: it was historically called "whistling-face syndrome" because of involvement of the facial muscles. FSS is often confused with other congenital contracture syndromes and, as a result, the clinical characteristics and natural history are poorly understood. The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS. Data from questionnaires, medical charts, examination, and photographs were analyzed to describe the physical features, therapeutic interventions, and functional outcomes in 73 individuals referred with the diagnosis of FSS. Only 32 referred cases (approximately 40%) met diagnostic criteria for FSS. In addition to contractures, common features in these cases included severe scoliosis (85%), strabismus (42%), and hearing loss (30%). Most infants required supplementary feedings via a nasogastric (45%) or gastrostomy tube (17%). Children walked by an average age of 19 months, but approximately 80% required ambulation-assist devices. An average of approximately 10 surgeries was performed on each child, and anesthetic and/or surgical complications were reported in 50% of individuals. All individuals were cognitively normal. The clinical characteristics and natural history of FSS distinguish it from other forms of arthrogryposis, yet FSS is frequently misdiagnosed. Children with FSS require considerable nutritional, surgical, and rehabilitative intervention. Such intensive therapeutic demands differ substantially from most other congenital contracture syndromes. These findings underscore the necessity of making an accurate diagnosis.
              Article 0 comments Cited 25 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Title: The Cleft Palate-Craniofacial Journal
                Abbreviated Title: The Cleft Palate-Craniofacial Journal
                Publisher: SAGE Publications
                ISSN (Print): 1055-6656
                ISSN (Electronic): 1545-1569
                Publication date Created: February 15 2018
                Publication date Created: May 2018
                Publication date (Electronic): January 25 2018
                Publication date (Print): May 2018
                Volume: 55
                Issue: 5
                Pages: 787-788
                Affiliations
                [1 ]Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, WV, USA
                [2 ]Department of Surgery, Georgetown University, Washington, DC, USA
                Article
                DOI: 10.1177/1055665617753482
                PubMed ID: 29370530
                SO-VID: 0555e476-f822-4808-8ada-2a760bee94cc
                Copyright © © 2018
                License:

                http://journals.sagepub.com/page/policies/text-and-data-mining-license

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