ArticleCureus2025
An Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.European journal of pediatrics · 2025Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple epiphyseal dysplasia (MED) though one of the common skeletal dysplasias leads to a diagnostic dilemma. This is because the initial presentation is subtle in most of the cases which mimics other disorders like myopathies and rheumatological conditions. We present a case of a ten-year-old girl whose initial symptoms led to an extensive workup of myopathies yielding no conclusion. The final answer to the diagnosis was found through a genetic test. Most of the MED cases are because of mutation in the autosomal dominant gene which has variable penetrance leading to the absence of any family history. In this case too, family history was not significant.
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Registered trials
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