Literature DB >> 7567245

Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl.

R Ricci1, L Aulisa, D Antuzzi, F Serra, G Segni, K Kozlowski.   

Abstract

A case of spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL) in an Italian girl is reported. This condition is mainly observed in the Afrikaans population of South Africa with an ancestral founder believed to be localized in West Germany. This case might support a link with the European origin of SEMDJL.

Entities:  

Mesh：

Year:  1995        PMID： 7567245     DOI： 10.1007/BF02011108

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  6 in total

1.  The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.

Authors:  M Torrington; P Beighton
Journal:  Clin Genet       Date:  1991-03       Impact factor: 4.438

2.  International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.

Authors:  P Beighton; A de Paepe; D Danks; G Finidori; T Gedde-Dahl; R Goodman; J G Hall; D W Hollister; W Horton; V A McKusick
Journal:  Am J Med Genet       Date:  1988-03

3.  Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome.

Authors:  A Hernández; M L Ramírez; Z Nazará; R Ocampo; B Ibarra; J M Cantú
Journal:  Am J Med Genet       Date:  1980

4.  Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.

Authors:  P Beighton; K Kozlowski; G Gericke; G Wallis; L Grobler
Journal:  S Afr Med J       Date:  1983-11-05

5.  Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.

Authors:  P Beighton; K Kozlowski
Journal:  Skeletal Radiol       Date:  1980       Impact factor: 2.199

6.  The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.

Authors:  P Beighton; G Gericke; K Kozlowski; L Grobler
Journal:  Clin Genet       Date:  1984-10       Impact factor: 4.438
  6 in total
  1 in total

1.  A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill
Journal:  Skeletal Radiol       Date:  2008-02-07       Impact factor: 2.199
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.