Literature DB >> 6499247

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

P Beighton, G Gericke, K Kozlowski, L Grobler.   

Abstract

Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.

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Year:  1984        PMID： 6499247     DOI： 10.1111/j.1399-0004.1984.tb01065.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 in total

1.  Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.

Authors:  Pamela Trejo; Frank Rauch; Francis H Glorieux; Jean Ouellet; Thierry Benaroch; Philippe M Campeau
Journal:  Mol Syndromol       Date:  2017-09-07

Review 2.  Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).

Authors:  P Beighton
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

3.  MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Authors:  Ann M Kennedy; Masaki Inada; Stephen M Krane; Paul T Christie; Brian Harding; Carlos López-Otín; Luis M Sánchez; Anna A J Pannett; Andrew Dearlove; Claire Hartley; Michael H Byrne; Anita A C Reed; M Andrew Nesbit; Michael P Whyte; Rajesh V Thakker
Journal:  J Clin Invest       Date:  2005-10       Impact factor: 14.808

4.  Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Authors:  Masahiro Nakajima; Shuji Mizumoto; Noriko Miyake; Ryo Kogawa; Aritoshi Iida; Hironori Ito; Hiroshi Kitoh; Aya Hirayama; Hiroshi Mitsubuchi; Osamu Miyazaki; Rika Kosaki; Reiko Horikawa; Angeline Lai; Roberto Mendoza-Londono; Lucie Dupuis; David Chitayat; Andrew Howard; Gabriela F Leal; Denise Cavalcanti; Yoshinori Tsurusaki; Hirotomo Saitsu; Shigehiko Watanabe; Ekkehart Lausch; Sheila Unger; Luisa Bonafé; Hirofumi Ohashi; Andrea Superti-Furga; Naomichi Matsumoto; Kazuyuki Sugahara; Gen Nishimura; Shiro Ikegawa
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

5.  New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.

Authors:  G Camera; G Stella; A Camera
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

6.  A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

Authors:  C M Hall; N H Elçioglu; D G Shaw
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

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

Authors:  R Ricci; L Aulisa; D Antuzzi; F Serra; G Segni; K Kozlowski
Journal:  Pediatr Radiol       Date:  1995

8.  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

Review 9.  Human genetic disorders and knockout mice deficient in glycosaminoglycan.

Authors:  Shuji Mizumoto; Shuhei Yamada; Kazuyuki Sugahara
Journal:  Biomed Res Int       Date:  2014-07-13       Impact factor: 3.411

10.  Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Authors:  Stefano Giuseppe Caraffi; Ilenia Maini; Ivan Ivanovski; Marzia Pollazzon; Sara Giangiobbe; Maurizia Valli; Antonio Rossi; Silvia Sassi; Silvia Faccioli; Maja Di Rocco; Cinzia Magnani; Belinda Campos-Xavier; Sheila Unger; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2019-10-12       Impact factor: 4.096
  10 in total

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