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Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study
DC Field | Value | Language |
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dc.contributor.author | Seo, Sang Gyo | - |
dc.contributor.author | Song, Hae-Ryong | - |
dc.contributor.author | Kim, Hyun Woo | - |
dc.contributor.author | Yoo, Won Joon | - |
dc.contributor.author | Shim, Jong Sup | - |
dc.contributor.author | Chung, Chin Youb | - |
dc.contributor.author | Park, Moon Seok | - |
dc.contributor.author | Oh, Chang-Wug | - |
dc.contributor.author | Jeong, Changhoon | - |
dc.contributor.author | Song, Kwang Soon | - |
dc.contributor.author | Kim, Ok-Hwa | - |
dc.contributor.author | Park, Sung Sup | - |
dc.contributor.author | Choi, In Ho | - |
dc.contributor.author | Cho, Tae-Joon | - |
dc.date.accessioned | 2014-04-18T02:02:58Z | - |
dc.date.available | 2014-04-18T02:02:58Z | - |
dc.date.issued | 2014-03-15 | - |
dc.identifier.citation | BMC Musculoskeletal Disorders Vol.15, pp.1-8 | ko_KR |
dc.identifier.issn | 1471-2474 | - |
dc.identifier.uri | https://hdl.handle.net/10371/91394 | - |
dc.description.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. | ko_KR |
dc.description.sponsorship | This study was supported by a grant from the SNUH Research Fund (No. 04-2013-0640). | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BioMed Central Ltd | ko_KR |
dc.subject | Multiple epiphyseal dysplasia | ko_KR |
dc.subject | COMP | ko_KR |
dc.subject | MATN3 | ko_KR |
dc.subject | Clinical manifestations | ko_KR |
dc.title | Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 서상교 | - |
dc.contributor.AlternativeAuthor | 송해룡 | - |
dc.contributor.AlternativeAuthor | 김현우 | - |
dc.contributor.AlternativeAuthor | 유원준 | - |
dc.contributor.AlternativeAuthor | 정진엽 | - |
dc.contributor.AlternativeAuthor | 박문석 | - |
dc.contributor.AlternativeAuthor | 오창욱 | - |
dc.contributor.AlternativeAuthor | 정창훈 | - |
dc.contributor.AlternativeAuthor | 송광순 | - |
dc.contributor.AlternativeAuthor | 김옥화 | - |
dc.contributor.AlternativeAuthor | 박성섭 | - |
dc.contributor.AlternativeAuthor | 심종섭 | - |
dc.contributor.AlternativeAuthor | 조태준 | - |
dc.identifier.doi | 10.1186/1471-2474-15-84 | - |
dc.citation.journaltitle | BMC Musculoskeletal Disorders | - |
dc.language.rfc3066 | en | - |
dc.description.version | Peer Reviewed | - |
dc.rights.holder | Sang Gyo Seo et al.; licensee BioMed Central Ltd. | - |
dc.date.updated | 2014-04-10T08:09:39Z | - |
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