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Am J Med Genet A. 2009 Oct;149A(10):2254-7. doi: 10.1002/ajmg.a.33003.

Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.

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Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.


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.

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