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Open Access 01-12-2014 | Research article

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study

Authors: Sang Gyo Seo, Hae-Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin Youb Chung, Moon Seok Park, Chang-Wug Oh, Changhoon Jeong, Kwang Soon Song, Ok-Hwa Kim, Sung Sup Park, In Ho Choi, Tae-Joon Cho

Published in: BMC Musculoskeletal Disorders | Issue 1/2014

Abstract

Background

Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia mainly involving the epiphyses of the long bones. However, it is a genetically heterogeneous group of diseases sharing certain aspects of the radiologic phenotype. In surveys conducted in East Asia, MATN3 was the most common causative gene, followed by COMP. In this study, the authors compared clinical manifestation of MED patients caused by MATN3 and COMP gene mutations, as well as subsequent orthopaedic interventions.

Methods

Fifty nine molecularly-confirmed MED patients were subjects of this study. The MATN3 gene mutation group comprised of 37 patients (9 female, 28 male). The COMP gene mutation consisted of 22 cases (15 females, 7 males). Medical records and radiographs were reviewed, and questionnaire surveys or telephone interviews were conducted.

Results

At the first presentation, the mean age was 8.8 ± 2.8 years (mean ± standard deviation) in the MATN3 group, and 8.5 ± 3.5 years in the COMP group (p = 0.670). The height in the COMP group was significantly shorter than those in the MATN3 group (p < 0.001). Gait abnormality at the first visit (p = 0.041) and the lastest follow-up (p = 0.037) were statistically significant difference. Hip pain (p = 0.084), limitation of daily activity (p = 0.075) at the latest follow-up tended to be more frequent in the COMP group. Hip dysplasia was more common in the COMP group, having significantly larger acetabular angle (p = 0.037), smaller center-edge angle (p = 0.002), severe Stulberg classification (p < 0.001), and smaller femoral head coverage (p < 0.001).

Conclusions

Clinical manifestations of MED caused by MATN3 were milder than manifestations of the COMP mutation group. These differences in clinical manifestation and prognosis justify molecular differentiation between the two genotypes.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2474/15/84/prepub

Title: Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study
Authors: Sang Gyo Seo
Hae-Ryong Song
Hyun Woo Kim
Won Joon Yoo
Jong Sup Shim
Chin Youb Chung
Moon Seok Park
Chang-Wug Oh
Changhoon Jeong
Kwang Soon Song
Ok-Hwa Kim
Sung Sup Park
In Ho Choi
Tae-Joon Cho
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Musculoskeletal Disorders / Issue 1/2014
Electronic ISSN: 1471-2474
DOI: https://doi.org/10.1186/1471-2474-15-84

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study

Abstract

Background

Methods

Results

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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