Literature DB >> 30375546

Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia.

Selçuk Sayilir1, Timur Ekiz2.   

Abstract

Multiple epiphyseal dysplasia is a relatively rare skeletal dysplasia characterized with early osteoarthritis resulting in joint dysfunction and short stature in childhood. In this article, we presented a 42-year-old patient of multiple epiphyseal dysplasia who was newly diagnosed, had relatively normal height, osteoarthritis, and double-layered patella. The patient was diagnosed in adulthood in contrast to the literature because the clinical scenario was apparent in the late periods.

Entities:  

Keywords:  Double-layered patella; osteoarthritis; skeletal dysplasia

Year:  2017        PMID: 30375546      PMCID: PMC6190958          DOI: 10.5606/ArchRheumatol.2018.6415

Source DB:  PubMed          Journal:  Arch Rheumatol        ISSN: 2148-5046            Impact factor:   1.472


  9 in total

1.  Partial double-layered patella in a nondysplasic adolescent.

Authors:  Serafín García-Mata; Angel Hidalgo-Ovejero
Journal:  J Pediatr Orthop B       Date:  2016-11       Impact factor: 1.041

2.  The fate of hips that are conservatively treated in multiple epiphyseal dysplasia.

Authors:  Seung-Ju Kim; Ashok K Ramanathan; Young-Sik Jeon; Hae-Ryong Song
Journal:  J Pediatr Orthop B       Date:  2017-11       Impact factor: 1.041

3.  A large family with multiple epiphyseal dysplasia linked to COL9A2 gene.

Authors:  J B van Mourik; B C Hamel; E C Mariman
Journal:  Am J Med Genet       Date:  1998-05-18

4.  Nosology and classification of genetic skeletal disorders: 2015 revision.

Authors:  Luisa Bonafe; Valerie Cormier-Daire; Christine Hall; Ralph Lachman; Geert Mortier; Stefan Mundlos; Gen Nishimura; Luca Sangiorgi; Ravi Savarirayan; David Sillence; Jürgen Spranger; Andrea Superti-Furga; Matthew Warman; Sheila Unger
Journal:  Am J Med Genet A       Date:  2015-09-23       Impact factor: 2.802

5.  Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis.

Authors:  S A Rasmussen; F R Bieber; B R Benacerraf; R S Lachman; D L Rimoin; L B Holmes
Journal:  Am J Med Genet       Date:  1996-01-02

6.  Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis.

Authors:  E G Sheffield
Journal:  J Pediatr Orthop       Date:  1998 Jan-Feb       Impact factor: 2.324

Review 7.  Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.

Authors:  Michael D Briggs; Kathryn L Chapman
Journal:  Hum Mutat       Date:  2002-05       Impact factor: 4.878

8.  Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

Authors:  Outi Mäkitie; Geert R Mortier; Malwina Czarny-Ratajczak; Michael J Wright; Mohnish Suri; Piotr Rogala; Margarida Freund; Gail C Jackson; Eveliina Jakkula; Leena Ala-Kokko; Michael D Briggs; William G Cole
Journal:  Am J Med Genet A       Date:  2004-03-15       Impact factor: 2.802

Review 9.  Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Authors:  Sheila Unger; Luisa Bonafé; Andrea Superti-Furga
Journal:  Best Pract Res Clin Rheumatol       Date:  2008-03       Impact factor: 4.098

  9 in total

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