A Forensic Approach to Sotos Syndrome

Area of Science:

• Genetics
• Pathology
• Pediatrics

Background:

• Sotos syndrome is a genetic overgrowth disorder caused by NSD1 gene alterations.
• It is associated with diverse clinical manifestations, including potential sudden death.

Observation:

• This report details autopsy findings in a 4-month-old infant diagnosed with Sotos syndrome.
• The infant presented with complex cardiac disease, including repaired septal defects, valve abnormalities, and cardiomegaly.

Findings:

• The infant's death was attributed to complex cardiac disease.
• Autopsy revealed significant cardiac abnormalities in the context of Sotos syndrome.

Implications:

• Identifying Sotos syndrome features at autopsy warrants genetic investigation.
• While recurrence risk is low, geneticist consultation and advanced imaging aid case evaluation.