Literature DB >> 3430547

Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.

J S Fitzsimmons1, P R Guilbert.   

Abstract

Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. Both have skeletal anomalies of their hands and feet with brachydactyly, cone shaped epiphyses, and an abnormal metaphyseal phalangeal pattern profile. In addition, they have a non-specific dysarthria and low-normal intellectual ability.

Entities:  

Mesh：

Year:  1987        PMID： 3430547      PMCID： PMC1050351          DOI： 10.1136/jmg.24.11.702

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


  3 in total

1.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

2.  Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia.

Authors:  S Opjordsmoen; R Nyberg-Hansen
Journal:  Acta Neurol Scand       Date:  1980-01       Impact factor: 3.209

3.  Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

Authors:  A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-10       Impact factor: 10.154
  3 in total
  4 in total

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

Authors:  R C Hennekam
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

2.  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

3.  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

Review 4.  Genome sequencing and implications for rare disorders.

Authors:  Jennifer E Posey
Journal:  Orphanet J Rare Dis       Date:  2019-06-24       Impact factor: 4.123
  4 in total

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