ArticleBMJ case reports2026
Child with genetically confirmed Prader-Willi syndrome.
Article in BMJ case reports, 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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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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3 authors.
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Abstract
Prader-Willi syndrome (PWS) is a rare genetic disorder caused by loss of paternal genes on chromosome 15. It is characterised by hyperphagia, obesity, endocrine deficiencies and neurodevelopmental challenges. We report on a boy in his early teens presenting with short stature, early-onset obesity and clinical features consistent with PWS. Genetic testing confirmed maternal uniparental disomy of chromosome 15. Management included food restriction and increased physical activity, resulting in modest improvement. This case highlights the diagnostic and management challenges of PWS in resource-limited settings and underscores the value of comprehensive genetic testing in clarifying phenotypic variations.
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