Evidence map›Paper›PMID 42220943›Full record

ArticleWorld journal of clinical pediatrics2026

Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.

Peerada Pongsakornkullachart, Mongkol Chanvanichtrakool, Dhachdanai Dhachpramuk, Theeraphong Pho-Iam, Nattha Yongwattana, Pimchanok Kulsirichawaroj, Jantima Tanboon, Oranee Sanmaneechai

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Peerada PongsakornkullachartDivision of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Mongkol ChanvanichtrakoolDivision of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Dhachdanai DhachpramukPediatric Precision Medicine Center, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Theeraphong Pho-IamSiriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Nattha YongwattanaSiriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Pimchanok KulsirichawarojDivision of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Jantima TanboonDepartment of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Oranee SanmaneechaiDivision of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDystrophinopathies are X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene ( CASE SUMMARY: We report two rare cases of DMD coexisting with chromosomal abnormalities, both followed at Siriraj Hospital. The first case involved a 6-year-old boy with DS who presented with incidentally detected elevated serum transaminase levels, calf pseudohypertrophy, and gait difficulty; gene panel testing identified a hemizygous c.3917dup (p.Asp1307Argfs*4) variant in

conclusionThe coexisting of DMD with DS or TS produces overlapping phenotypes that can complicate diagnosis; careful genetic evaluation and multidisciplinary management are therefore essential.

Indexed as

Case reportDown syndromeDuchenne muscular dystrophyDystrophinopathyTurner syndrome

Identifiers

PMID42220943
PMCPMC13217180

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