Literature DB >> 8014978

Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome.

R C Hennekam1.   

Abstract

A girl with slowly progressive difficulty in walking, dysarthria, growth retardation, brachydactyly, and cone shaped epiphyses is described. This constellation of symptoms was described in 1987 by Fitzsimmons and Guilbert. It probably represents a rare mendelian disorder of unknown cause.

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Year:  1994        PMID： 8014978      PMCID： PMC1049754          DOI： 10.1136/jmg.31.3.251

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  1 in total

1.  Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.

Authors:  J S Fitzsimmons; P R Guilbert
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318
  1 in total
  2 in total

1.  Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Authors:  A S Teebi; S Miller; H Ostrer; P Eydoux; C Colomb-Brockmann; K Oudjhane; G Watters
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

2.  Phenotypic expansion illuminates multilocus pathogenic variation.

Authors:  Ender Karaca; Jennifer E Posey; Zeynep Coban Akdemir; Davut Pehlivan; Tamar Harel; Shalini N Jhangiani; Yavuz Bayram; Xiaofei Song; Vahid Bahrambeigi; Ozge Ozalp Yuregir; Sevcan Bozdogan; Gozde Yesil; Sedat Isikay; Donna Muzny; Richard A Gibbs; James R Lupski
Journal:  Genet Med       Date:  2018-04-26       Impact factor: 8.822
  2 in total

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