Literature DB >> 15930940

The distal arthrogryposes: a new classification of peripheral contractures.

Rodney K Beals1.   

Abstract

Distal arthrogryposes are a group of syndromes with congenital contractures primarily involving the hands and feet, which often are associated with abnormal facies, and are transmitted by autosomal dominant inheritance. Many affected individuals present in an orthopaedic setting. The features of these syndromes are described to allow diagnosis, establish prognosis, provide family counseling, and treatment. Increased recognition will lead to improved knowledge of the natural history.

Entities:  

Mesh:

Year:  2005        PMID: 15930940

Source DB:  PubMed          Journal:  Clin Orthop Relat Res        ISSN: 0009-921X            Impact factor:   4.176


  16 in total

Review 1.  Management of hip contractures and dislocations in arthrogryposis.

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

2.  Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Authors:  Yavuz Bayram; Ender Karaca; Zeynep Coban Akdemir; Elif Ozdamar Yilmaz; Gulsen Akay Tayfun; Hatip Aydin; Deniz Torun; Sevcan Tug Bozdogan; Alper Gezdirici; Sedat Isikay; Mehmed M Atik; Tomasz Gambin; Tamar Harel; Ayman W El-Hattab; Wu-Lin Charng; Davut Pehlivan; Shalini N Jhangiani; Donna M Muzny; Ali Karaman; Tamer Celik; Ozge Ozalp Yuregir; Timur Yildirim; Ilhan A Bayhan; Eric Boerwinkle; Richard A Gibbs; Nursel Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  J Clin Invest       Date:  2016-01-11       Impact factor: 14.808

Review 3.  Management of knee deformities in children with arthrogryposis.

Authors:  Manuele Lampasi; Diego Antonioli; Onofrio Donzelli
Journal:  Musculoskelet Surg       Date:  2012-08-09

Review 4.  [Congenital multiple arthrogryposis].

Authors:  Klaus Parsch; Szymon Pietrzak
Journal:  Orthopade       Date:  2007-03       Impact factor: 1.087

5.  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

6.  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

Review 7.  Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

Authors:  Julien Ochala
Journal:  J Mol Med (Berl)       Date:  2008-06-24       Impact factor: 4.599

8.  Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Authors:  Raphael Carapito; Alice Goldenberg; Nicodème Paul; Angélique Pichot; Albert David; Antoine Hamel; Clémentine Dumant-Forest; Julien Leroux; Benjamin Ory; Bertrand Isidor; Seiamak Bahram
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246

9.  Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome.

Authors:  Kaylyn M Bell; Alice Huang; William A Kronert; Sanford I Bernstein; Douglas M Swank
Journal:  Biophys J       Date:  2021-01-30       Impact factor: 4.033

10.  First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.

Authors:  Jung Min Ko; In-Ho Choi; Goo-Hyun Baek; Kee-Won Kim
Journal:  J Korean Med Sci       Date:  2013-05-02       Impact factor: 2.153

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