What question did this study set out to answer?

The aim is to describe the clinical presentation of Prader-Willi syndrome and relate it to genetic evidence.

March 19, 2026Open Access

Prader-Willi Syndrome Presenting With Early Infantile Hypotonia: A Case Report

Key Points

The aim is to describe the clinical presentation of Prader-Willi syndrome and relate it to genetic evidence.
Case report of a one-year-old child diagnosed with Prader-Willi syndrome
Identification of clinical features, including hypotonia
Correlation with molecular testing for genetic confirmation
Diagnosis of Prader-Willi syndrome was confirmed through molecular testing
The child exhibited distinct features associated with early infantile hypotonia
Findings align with current genetic and phenotypic evidence

Abstract

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.

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