Literature DB >> 7424974

Familial joint instability syndrome.

W A Horton, D L Collins, A A DeSmet, J A Kennedy, R N Schimke.   

Abstract

We describe a family in which many persons have generalized joint laxity frequently complicated by dislocation of major joints. The condition is an autosomal dominant trait, with high penetrance. The disorder observed in this family and in others from the literature appears to be a specific syndrome that can be distinguished from other familial forms of joint laxity such as simple familial joint laxity and the Ehlers-Danlos syndromes. It has been designated the familial joint instability syndrome.

Entities:  

Mesh:

Year:  1980        PMID: 7424974     DOI: 10.1002/ajmg.1320060306

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


  4 in total

1.  Lax ligament syndrome in children associated with blue sclera and bat ears.

Authors:  F M Howard
Journal:  Br J Gen Pract       Date:  1990-06       Impact factor: 5.386

2.  Generalized joint hypermobility and voiding dysfunction in children: is there any relationship?

Authors:  Abdol-Mohammad Kajbafzadeh; Lida Sharifi-Rad; Seyedeh Sanam Ladi Seyedian; Sarah Mozafarpour; Koosha Paydary
Journal:  Eur J Pediatr       Date:  2014-02       Impact factor: 3.183

3.  Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification.

Authors:  I Hausser; I Anton-Lamprecht
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

4.  Vesicourethral reflux in pediatrics with hypermobility syndrome.

Authors:  Fatemeh Beiraghdar; Zohreh Rostami; Yunes Panahi; Behzad Einollahi; Mojtaba Teimoori
Journal:  Nephrourol Mon       Date:  2013-08-12
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.