Literature DB >> 24862418

Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract.

Sanjay Kumar Mandal1, Sudip Ghosh1, Soumya Sarathi Mondal1, Suman Chatterjee1.   

Abstract

Spondyloepiphyseal dysplasia tarda with progressive arthropathy is a form of inherited skeletal dysplasia involving the axial skeleton along with swelling and deformities of the peripheral joints that mimics juvenile rheumatoid arthritis. We report a case of a 14-year-old school boy who presented with dwarfism, spine deformity, ocular anomaly and peripheral arthropathy with characteristic radiological changes in the vertebrae and multiple other joints. 2014 BMJ Publishing Group Ltd.

Entities:  

Mesh：

Year:  2014        PMID： 24862418      PMCID： PMC4039894          DOI： 10.1136/bcr-2013-202938

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  11 in total

1.  Progressive pseudorheumatoid arthritis of childhood.

Authors:  R Mittal; S Bhargava
Journal:  Indian Pediatr       Date:  2001-01       Impact factor: 1.411

2.  Spondyloepiphyseal dysplasia tarda with progressive arthropathy: an important form of osteodysplasia in the differential diagnosis of juvenile rheumatoid arthritis.

Authors:  S Arslanoglu; H Murat; G Ferah
Journal:  Pediatr Int       Date:  2000-10       Impact factor: 1.524

Review 3.  Progressive pseudorheumatoid dysplasia: report of a family and review.

Authors:  H E el-Shanti; H Z Omari; H I Qubain
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

4.  Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs.

Authors:  G Nishimura; Y Fukushima; T Aihara; H Ohashi; H Nishimoto; J Nishimura
Journal:  Am J Med Genet       Date:  1998-04-28

5.  Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.

Authors:  R Wynne-Davies; C Hall; B M Ansell
Journal:  J Bone Joint Surg Br       Date:  1982

6.  Corneal changes in spondyloepiphyseal dysplasia tarda.

Authors:  Y Hirata; H Watanabe; N Maeda; Y Inoue; Y Shimomura; Y Tano
Journal:  Jpn J Ophthalmol       Date:  2000 Jan-Feb       Impact factor: 2.447

7.  Progressive pseudorheumatoid dysplasia: three cases in one family.

Authors:  Loubna Bennani; Bouchra Amine; Linda Ichchou; Noufissa Lazrak; Najia Hajjaj-Hassouni
Journal:  Joint Bone Spine       Date:  2007-05-25       Impact factor: 4.929

8.  Mutant WISP3 triggers the phenotype shift of articular chondrocytes by promoting sensitivity to IGF-1 hypothesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA).

Authors:  Ya Yang; Eryuan Liao
Journal:  Med Hypotheses       Date:  2007-03-23       Impact factor: 1.538

Review 9.  The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Authors:  Nuria Garcia Segarra; Laureane Mittaz; Ana Belinda Campos-Xavier; Cynthia F Bartels; Beyhan Tuysuz; Yasemin Alanay; Rolando Cimaz; Valerie Cormier-Daire; Maja Di Rocco; Hans-Christoph Duba; Nursel H Elcioglu; Francesca Forzano; Toni Hospach; Esra Kilic; Jasmin B Kuemmerle-Deschner; Geert Mortier; Sonja Mrusek; Sheela Nampoothiri; Ewa Obersztyn; Richard M Pauli; Angelo Selicorni; Romano Tenconi; Sheila Unger; G Eda Utine; Michael Wright; Bernhard Zabel; Matthew L Warman; Andrea Superti-Furga; Luisa Bonafé
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-07-12       Impact factor: 3.908

Review 10.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802
View more
  1 in total

Review 1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.