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Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment

Authors

  • Christine M. Armour,

    1. Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
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  • Peter Humphreys,

    1. Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
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  • Raoul C.M. Hennekam,

    1. Institute of Child Health, Great Ormond Street Hospital for Children, University College London, London, UK
    2. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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  • Kym M. Boycott

    Corresponding author
    1. Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    • Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Rd, Ottawa, Ontario, Canada K1H 8L1.
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  • How to cite this article: Armour CM, Humphreys P, Hennekam RCM, Boycott KM. 2009. Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment. Am J Med Genet Part A 149A:2254–2257.

Abstract

Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old boy with Fitzsimmons syndrome. He was noted to toe-walk at age 18 months and spasticity progressed slowly into a spastic gait with contractures. He has mild dysarthria and hypernasal speech. Brachydactyly is notable but cannot be classified into one of the recognized types. A cone-shaped epiphysis was apparent on the only available childhood radiograph. He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome. © 2009 Wiley-Liss, Inc.

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