Literature DB >> 15266623

Czech dysplasia metatarsal type.

K Kozlowski1, I Marik, O Marikova, D Zemkova, M Kuklik.   

Abstract

We report three further patients of the recently described new bone dysplasia-dominantly inherited pseudorheumatoid arthritis. The patients of this report have a similar clinical history, the same distinctive phenotype and almost identical radiographic findings. The only major difference is absence of weather dependent articular pain which characterized the family of the previous study. This report expands the clinical data of this bone dysplasia. All patients are Caucasians and originate from different parts of the Czech Republic. It seems that this disorder is quite a common constitutional bone disorder in this country. We propose the name of Czech Dysplasia Metatarsal Type for this unique disease.

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Year:  2004        PMID: 15266623     DOI: 10.1002/ajmg.a.30132

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  7 in total

1.  Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.

Authors:  Peter Kannu; Melita Irving; Salim Aftimos; Ravi Savarirayan
Journal:  Clin Orthop Relat Res       Date:  2011-03-26       Impact factor: 4.176

Review 2.  Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Authors:  Sofia Torreggiani; Marta Torcoletti; Belinda Campos-Xavier; Francesco Baldo; Carlo Agostoni; Andrea Superti-Furga; Giovanni Filocamo
Journal:  Rheumatol Int       Date:  2018-10-16       Impact factor: 2.631

3.  Premature osteoarthritis of the knee associated with cartilage hypertrophy and phalangeal dysgenesis.

Authors:  E M J Vital; C W Hutton; P M Hughes
Journal:  Skeletal Radiol       Date:  2004-11-20       Impact factor: 2.199

4.  Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Authors:  Xiangjun Huang; Xiong Deng; Hongbo Xu; Song Wu; Lamei Yuan; Zhijian Yang; Yan Yang; Hao Deng
Journal:  PLoS One       Date:  2015-06-01       Impact factor: 3.240

Review 5.  From Structure to Phenotype: Impact of Collagen Alterations on Human Health.

Authors:  Lavinia Arseni; Anita Lombardi; Donata Orioli
Journal:  Int J Mol Sci       Date:  2018-05-08       Impact factor: 5.923

6.  Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.

Authors:  Yang Xu; Li Li; Chun Wang; Hua Yue; Hao Zhang; Jiemei Gu; Weiwei Hu; Lianyong Liu; Zhenlin Zhang
Journal:  Int J Biol Sci       Date:  2020-01-16       Impact factor: 6.580

7.  Early childhood presentation of Czech dysplasia.

Authors:  Lindsay C Burrage; James T Lu; David S Liu; Timothy J Moss; Richard Gibbs; Alan E Schlesinger; Carlos A Bacino; Philippe M Campeau; Brendan H Lee
Journal:  Clin Dysmorphol       Date:  2013-04       Impact factor: 0.816

  7 in total

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