科研速览 · Science Skim继续刷下去 · Keep skimming →
◆ BMJ case reports2026-09-18

Child with genetically confirmed Prader-Willi syndrome.

Menbere Gebreanania Kahssay, Katherine Oyieke, Charlotte Hoybye

原始摘要(英文原文)· Original 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.
读原文 · Read the paper ↗

AI 追问PRO

登录后使用 AI 追问

讨论区

登录后参与讨论

相关论文 · Related

Child with genetically confirmed Prader-Willi syndrome. — 科研速览 Science Skim