Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Key Points

• To report a novel SOX5 variant associated with Lamb-Shaffer syndrome and emphasize the need for genetic confirmation in neurodevelopmental cases.
• Observed genetic characteristics of a Chinese adolescent with unexplained neurodevelopmental features.
• Identified a novel SOX5 variant through genetic testing.
• Reviewed clinical management approaches based on genetic findings.
• Identified a specific SOX5 variant linked to Lamb-Shaffer syndrome.
• Demonstrated the clinical significance of genetic confirmation for appropriate management.
• Highlighted the potential to avoid unnecessary interventions in the absence of a genetic diagnosis.