Prader-Willi syndrome: A rare genetic disorder with complex clinical manifestations
Dinkar Yadav1, Neha Yadav2, Neha Pruthi1
1Department of Paediatrics, Post Graduate Institute of Medical Sciences (PGIMS), Rohtak, Haryana, India.
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.
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