| Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. | |
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MedLine Citation:
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PMID: 19760657 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Christine M Armour; Peter Humphreys; Raoul C M Hennekam; Kym M Boycott |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-01 Completed Date: 2009-12-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2254-7 Citation Subset: IM |
Affiliation:
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Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis Adolescent Cognition Disorders / complications* Foot Deformities, Congenital / complications* Humans Male Paraplegia / complications* Syndrome |
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