Literature DB >> 6431106

Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

S A Al-Awadi, T I Fårag, K Naguib, M Y El-Khalifa, A Cuschieri, G Hosny, M Zahran, A G Al-Ansari.   

Abstract

We present a family with numerous first cousin marriages and several members affected with spondyloepiphyseal dysplasia tarda with progressive arthropathy causing severe crippling and deformity. The extensive pedigree provides strong evidence for autosomal recessive inheritance.

Entities:  

Mesh：

Year:  1984        PMID： 6431106      PMCID： PMC1049265          DOI： 10.1136/jmg.21.3.193

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


  2 in total

1.  Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.

Authors:  R Wynne-Davies; C Hall; B M Ansell
Journal:  J Bone Joint Surg Br       Date:  1982

2.  Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis.

Authors:  J Spranger; C Albert; F Schilling; C Bartsocas; H Stöss
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183
  2 in total
  18 in total

1.  Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification.

Authors:  A Alkhateeb; J al-Alami; S M Leal; H el-Shanti; A Alkbateeb
Journal:  Genet Test       Date:  1999

Review 2.  Progressive pseudorheumatoid dysplasia: report of a family and review.

Authors:  H E el-Shanti; H Z Omari; H I Qubain
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

3.  Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.

Authors:  Ivo Marik; Olga Marikova; Dana Zemkova; Miroslav Kuklik; Kazimierz Kozlowski
Journal:  Skeletal Radiol       Date:  2004-01-17       Impact factor: 2.199

4.  An autosomal recessive variant of spondylo-epiphyseal dysplasia in three sibs.

Authors:  R A Pfeiffer; J Suess; M Haagen
Journal:  Pediatr Radiol       Date:  1992

5.  Progressive pseudorheumatoid chondrodysplasia: a hereditary disorder simulating rheumatoid arthritis.

Authors:  B Adak; I Tekeoğlu; M E Sakarya; S Uğraş
Journal:  Clin Rheumatol       Date:  1998       Impact factor: 2.980

6.  Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.

Authors:  A S Teebi; S A Al Awadi
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

7.  Case report 486: Spondyloepiphyseal dysplasia tarda (SDT) (presumptively proved).

Authors:  D D Brown; M H Childress
Journal:  Skeletal Radiol       Date:  1988       Impact factor: 2.199

8.  [Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Apropos of 3 cases].

Authors:  M Miladi; M H Elleuch; S Sellami; M Douik
Journal:  Int Orthop       Date:  1987       Impact factor: 3.075

9.  Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation.

Authors:  Hou-De Zhou; Yan-Hong Bu; Yi-Qun Peng; Hui Xie; Min Wang; Lin-Qing Yuan; Yi Jiang; Duo Li; Qi-You Wei; Yu-Ling He; Tao Xiao; Jiang-Dong Ni; Er-Yuan Liao
Journal:  J Mol Med (Berl)       Date:  2007-05-05       Impact factor: 4.599

10.  Pseudoseptic pseudogout in progressive pseudorheumatoid arthritis of childhood.

Authors:  J D Bradley
Journal:  Ann Rheum Dis       Date:  1987-09       Impact factor: 19.103
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.