Prader-Willi syndrome (PWS) is a genetic disorder resulting from the loss of paternally expressed genes on chromosome 15q11.2-15q13.3. It is characterized by distinct clinical features and multisystem involvement, including endocrine, neurodevelopmental, and metabolic abnormalities. Early diagnosis can be challenging because clinical manifestations in infancy are often subtle; therefore, molecular testing is essential for confirmation. This report describes a one-year-old child newly diagnosed with PWS, aiming to highlight the clinical presentation and correlate the findings with current genetic and phenotypic evidence.
Alsindi et al. (Tue,) studied this question.