Literature DB >> 1941966

A new form of autosomal dominant arthrogryposis.

M M Lai1, M A Tettenborn, J G Hall, L J Smith, A C Berry.   

Abstract

We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.

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Mesh：

Year:  1991        PMID： 1941966      PMCID： PMC1017058          DOI： 10.1136/jmg.28.10.701

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


  5 in total

1.  Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.

Authors:  F Halal; F C Fraser
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

2.  Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

Authors:  R K Beals; F Hecht
Journal:  J Bone Joint Surg Am       Date:  1971-07       Impact factor: 5.284

3.  A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.

Authors:  U G Froster-Iskenius; J R Waterson; J G Hall
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

4.  In utero movement and use of limbs are necessary for normal growth: a study of individuals with arthrogryposis.

Authors:  J G Hall
Journal:  Prog Clin Biol Res       Date:  1985

Review 5.  The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

Authors:  J G Hall; S D Reed; G Greene
Journal:  Am J Med Genet       Date:  1982-02
  5 in total
  4 in total

1.  [Arthrogryposis multiplex congenita and retinitis pigmentosa].

Authors:  N Stübiger; S Biester; C Deuter; E Zrenner; D Besch
Journal:  Ophthalmologe       Date:  2009-12       Impact factor: 1.059

2.  Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Authors:  Margaret J McMillin; Anita E Beck; Jessica X Chong; Kathryn M Shively; Kati J Buckingham; Heidi I S Gildersleeve; Mariana I Aracena; Arthur S Aylsworth; Pierre Bitoun; John C Carey; Carol L Clericuzio; Yanick J Crow; Cynthia J Curry; Koenraad Devriendt; David B Everman; Alan Fryer; Kate Gibson; Maria Luisa Giovannucci Uzielli; John M Graham; Judith G Hall; Jacqueline T Hecht; Randall A Heidenreich; Jane A Hurst; Sarosh Irani; Ingrid P C Krapels; Jules G Leroy; David Mowat; Gordon T Plant; Stephen P Robertson; Elizabeth K Schorry; Richard H Scott; Laurie H Seaver; Elliott Sherr; Miranda Splitt; Helen Stewart; Constance Stumpel; Sehime G Temel; David D Weaver; Margo Whiteford; Marc S Williams; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2014-04-10       Impact factor: 11.025

Review 3.  Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

Authors:  C T Schrander-Stumpel; C J Höweler; A D Reekers; N M De Smet; J G Hall; J P Fryns
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

4.  Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Authors:  Xuefu Li; Bomeng Zhong; Weitian Han; Ning Zhao; Wei Liu; Yu Sui; Yawen Wang; Yongping Lu; Hong Wang; Jianxin Li; Miao Jiang
Journal:  PLoS One       Date:  2015-02-13       Impact factor: 3.240
  4 in total

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