Prader-Willi syndrome: A rare genetic disorder with complex clinical manifestations.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 41403484.
- Also identified by DOI 10.4103/jfmpc.jfmpc_155_25 and PMC identifier 12704988.
- Licence recorded as CC BY-NC-SA.
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Abstract
Prader-Willi Syndrome (PWS) is a rare genetic disorder characterised by hypotonia, hyperphagia, and developmental delay. We report a case of a 12-year-old girl who presented with excessive hunger, obesity, and cognitive impairment. Molecular analysis revealed a deletion of the paternal chromosomes 15q11-13, confirming the diagnosis of PWS. Our case highlights the importance of early diagnosis and multidisciplinary management in improving the quality of life for individuals with PWS.