{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T13:09:26Z","timestamp":1789736966429,"version":"4.0.1"},"reference-count":11,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"unspecified","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,7]]},"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>Prader\u2013Willi 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.<\/jats:p>","DOI":"10.1136\/bcr-2026-273026","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T13:00:14Z","timestamp":1789736414000},"page":"e273026","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Child with genetically confirmed Prader-Willi syndrome"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7864-5406","authenticated-orcid":false,"given":"Menbere Gebreanania","family":"Kahssay","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health, The Aga Khan University Hospital Nairobi, Nairobi, Kenya"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Oyieke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, The Aga Khan University Hospital Nairobi, Nairobi, Kenya"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Hoybye","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,9,18]]},"reference":[{"key":"2026091806000744000_19.9.e273026.1","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1651-2227.1997.tb18370.x","article-title":"The genetic basis for Prader-Willi syndrome: the importance of imprinted genes","volume":"423","author":"Br\u00f8ndum-Nielsen","year":"1997","journal-title":"Acta Paediatr Suppl"},{"key":"2026091806000744000_19.9.e273026.2","doi-asserted-by":"publisher","DOI":"10.2174\/1573396315666190716120925"},{"key":"2026091806000744000_19.9.e273026.3","unstructured":"Driscoll DJ , Miller JL , Cassidy SB , et al . 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