Literature DB >> 9260643

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

J G Hall1.   

Abstract

Arthrogryposis is a sign associated with many specific conditions and syndromes. It is a term used to describe the presence of multiple joint contractures that are present at birth. It can be seen in isolation or in association with other congenital abnormalities as part of a syndrome with or without central nervous system involvement. The exact pathogenesis of arthrogryposis is unknown, but all involve fetal akinesia (decreased fetal movement) with subsequent joint contractures. In this article I describe the causes, genetic aspects, classification, and approach to diagnosis.

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Year:  1997        PMID: 9260643

Source DB:  PubMed          Journal:  J Pediatr Orthop B        ISSN: 1060-152X            Impact factor:   1.041


  56 in total

1.  Identification of the target cells and sequence of infection during experimental infection of ovine fetuses with Cache Valley virus.

Authors:  Aline Rodrigues Hoffmann; Christabel Jane Welsh; Patricia Wilcox Varner; Andres de la Concha-Bermejillo; Judith Marchand Ball; Andy Ambrus; John Francis Edwards
Journal:  J Virol       Date:  2012-02-29       Impact factor: 5.103

2.  Skeletal muscle abnormalities and genetic factors related to vertical talus.

Authors:  Laura J Merrill; Christina A Gurnett; Anne M Connolly; Alan Pestronk; Matthew B Dobbs
Journal:  Clin Orthop Relat Res       Date:  2010-07-20       Impact factor: 4.176

3.  Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.

Authors:  Haiou Yang; Zhaojing Zheng; Haiqing Cai; Huimin Li; Xingchen Ye; Xiaoqing Zhang; Zhigang Wang; Qihua Fu
Journal:  Hum Genet       Date:  2016-07-09       Impact factor: 4.132

4.  Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

Authors:  Markus Storbeck; Beate Horsberg Eriksen; Andreas Unger; Irmgard Hölker; Ingvild Aukrust; Lilian A Martínez-Carrera; Wolfgang A Linke; Andreas Ferbert; Raoul Heller; Matthias Vorgerd; Gunnar Houge; Brunhilde Wirth
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

Review 5.  Management of hip contractures and dislocations in arthrogryposis.

Authors:  Stefano Stilli; Diego Antonioli; Manuele Lampasi; Onofrio Donzelli
Journal:  Musculoskelet Surg       Date:  2012-01-26

6.  Amyoplasia congenita of the lower extremity: report in a premature baby.

Authors:  Hyeon Soo Lee
Journal:  Yonsei Med J       Date:  2005-08-31       Impact factor: 2.759

7.  Gait in children with arthrogryposis multiplex congenita.

Authors:  Marie Eriksson; Elena M Gutierrez-Farewik; Eva Broström; Asa Bartonek
Journal:  J Child Orthop       Date:  2010-01-16       Impact factor: 1.548

8.  Reconstruction of elbow flexion in arthrogryposis multiplex congenita type I. Part I: surgical anatomy and vascular and nerve supply of the pectoralis major muscle as a basis for muscle transfer.

Authors:  Jiri Chomiak; Pavel Dungl
Journal:  J Child Orthop       Date:  2008-09-16       Impact factor: 1.548

9.  Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.

Authors:  Christina A Gurnett; Farhang Alaee; David Desruisseau; Stephanie Boehm; Matthew B Dobbs
Journal:  Clin Orthop Relat Res       Date:  2009-01-14       Impact factor: 4.176

10.  Correction of arthrogrypotic clubfoot with a modified Ponseti technique.

Authors:  Harold J P van Bosse; Salih Marangoz; Wallace B Lehman; Debra A Sala
Journal:  Clin Orthop Relat Res       Date:  2009-01-14       Impact factor: 4.176

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