journal article Feb 02, 2025

An Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl

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References
9
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Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002, 19:465-78. 10.1002/humu.10066 10.1002/humu.10066
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Ballhausen D, Bonafé L, Terhal P, et al.. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet. 2003, 40:65-71. 10.1136/jmg.40.1.65 10.1136/jmg.40.1.65
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Piróg KA, Briggs MD. Skeletal dysplasias associated with mild myopathy-a clinical and molecular review. J Biomed Biotechnol. 2010, 2010:686457. 10.1155/2010/686457 10.1155/2010/686457
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Pavone V, Costarella L, Privitera V, Sessa G. Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. J Arthroplasty. 2009, 24:868-72. 10.1016/j.arth.2008.06.023 10.1016/j.arth.2008.06.023
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Zankl A, Jackson GC, Crettol LM, et al.. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet. 2007, 15:150-4. 10.1038/sj.ejhg.5201744 10.1038/sj.ejhg.5201744
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Chapman KL, Briggs MD, Mortier GR. Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. Pediatr Pathol Mol Med. 2003, 22:53-75. 10.1080/pdp.22.1.53.75 10.1080/pdp.22.1.53.75
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Markova T, Murtazina A, Kenis, et al.. A novel homozygous variant in the COMP gene causing a multiple epiphyseal dysplasia 1 with autosomal recessive inheritance. Int J Transl Med. 2022, 2:210-9. 10.3390/ijtm2020019 10.3390/ijtm2020019
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Piróg-Garcia KA, Meadows RS, Knowles L, et al.. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. Hum Mol Genet. 2007, 16:2072-88. 10.1093/hmg/ddm155 10.1093/hmg/ddm155
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Unger S, Bonafé L, Superti-Furga A. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol. 2008, 22:19-32. 10.1016/j.berh.2007.11.009 10.1016/j.berh.2007.11.009
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Published
Feb 02, 2025
Cite This Article
Shikha Swaroop, Preeti Srivastava, Kumar Diwakar, et al. (2025). An Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl. Cureus. https://doi.org/10.7759/cureus.78400
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