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

Cited 5 time in Web of Science Cited 7 time in Scopus
Authors
Seo, Sang Gyo; Song, Hae-Ryong; Kim, Hyun Woo; Yoo, Won Joon; Shim, Jong Sup; Chung, Chin Youb; Park, Moon Seok; Oh, Chang-Wug; Jeong, Changhoon; Song, Kwang Soon; Kim, Ok-Hwa; Park, Sung Sup; Choi, In Ho; Cho, Tae-Joon
Issue Date
2014-03-15
Publisher
BioMed Central
Citation
BMC Musculoskeletal Disorders, 15(1):84
Keywords
Multiple epiphyseal dysplasiaCOMPMATN3Clinical manifestations
Description
This is an Open Access article distributed under the terms of the Creative
Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly credited.
Abstract
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.
Language
English
URI
http://hdl.handle.net/10371/100636
DOI
https://doi.org/10.1186/1471-2474-15-84
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College of Medicine/School of Medicine (의과대학/대학원)Orthopedic Surgery (정형외과학전공)Journal Papers (저널논문_정형외과학전공)
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