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

Abstract

BackgroundMultiple 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.MethodsFifty 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.ResultsAt 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).ConclusionsClinical 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.

Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia

“…[2][3][4][5][6][7][8][9] The knee is the second most common joint affected after the hip. 1,6 After epiphyseal closure, the most characteristic findings involving the knee comprise a shallow femoral trochlear groove, early onset osteoarthritic changes, genu valgum, depression of the lateral tibial plateau, and multiple free bodies.…”

“…[1][2][3][4][5] Genetically, it is a fairly heterogeneous condition, comprising both autosomal dominant and autosomal recessive types. 3,5 MED affects both sexes. A common presenting sign is joint pain affecting the hip and knee.…”

“…A common presenting sign is joint pain affecting the hip and knee. [3][4][5][6][7] During childhood, progressive deviation from the normal growth curve can occur, resulting in mild to moderate short stature by the age of 5 to 6 years. [1][2][3][4][5][6][7][8][9] Common manifestations are mild to moderate brachydactyly, joint contractures, coxa vara, genu valga or vara, and early onset osteoarthritis, mainly affecting the hips and knees.…”

“…[3][4][5][6][7] During childhood, progressive deviation from the normal growth curve can occur, resulting in mild to moderate short stature by the age of 5 to 6 years. [1][2][3][4][5][6][7][8][9] Common manifestations are mild to moderate brachydactyly, joint contractures, coxa vara, genu valga or vara, and early onset osteoarthritis, mainly affecting the hips and knees. [1][2][3][4][5][6][7][8][9] In this report, we describe arthroscopic management of an unusual presentation of recurrent left (LT) knee locking in a 23-year-old paralympic table tennis player diagnosed with MED.…”

“…[1][2][3][4][5][6][7][8][9] Common manifestations are mild to moderate brachydactyly, joint contractures, coxa vara, genu valga or vara, and early onset osteoarthritis, mainly affecting the hips and knees. [1][2][3][4][5][6][7][8][9] In this report, we describe arthroscopic management of an unusual presentation of recurrent left (LT) knee locking in a 23-year-old paralympic table tennis player diagnosed with MED. Although radiographs (Fig 1) and magnetic resonance imaging (MRI) (Fig 2) of his knee were inconclusive with regard to the source of locking, arthroscopic examination identified hypertrophic cartilage of the femoral condyle as the cause for locking.…”