Literature DB >> 3717209

Distal arthrogryposis type II: a family with varying congenital abnormalities.

J A Reiss, L J Sheffield.   

Abstract

Five family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis, webbed neck, kyphoscoliosis, and short stature are seen in one or more affected family members. All individuals with distal arthrogryposis also have trismus. This family does not fit any of the recently proposed five subcategories of type II distal arthrogryposis, nor does it fit any other recognized autosomal dominant condition with distal contractures.

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Year:  1986        PMID: 3717209     DOI: 10.1002/ajmg.1320240206

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  An autosomal dominant multiple pterygium syndrome.

Authors:  C M McKeown; R Harris
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

Review 2.  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

3.  A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.

Authors:  Xiaoquan Zhu; Fengchao Wang; Yanyang Zhao; Peng Yang; Jun Chen; Hanzi Sun; Lei Liu; Wenjun Li; Lin Pan; Yanru Guo; Zhaohui Kou; Yu Zhang; Cheng Zhou; Jiang He; Xue Zhang; Jianxin Li; Weitian Han; Jian Li; Guanghui Liu; Shaorong Gao; Ze Yang
Journal:  PLoS Genet       Date:  2014-10-23       Impact factor: 5.917

  3 in total

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