A Forensic Approach to Sotos Syndrome


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Abstract

Sotos syndrome is a childhood overgrowth condition that is caused by deletions or mutations in the NSD1 gene located on chromosome 5q35. The syndrome is associated with a wide variety of features that may result in sudden death. The aim of this report was to investigate the spectrum of potential findings in cases presenting to autopsy. A 4-month-old girl with Sotos syndrome was found dead after being put down to sleep. Her death was due to complex cardiac disease that included surgically repaired atrial and ventricular septal defects and valve abnormalities, with cardiomegaly. If the features of Sotos syndrome are identified de novo at autopsy, genetic investigations are warranted, although the recurrence risk is low. The involvement of a clinical geneticist may assist in evaluating cases, and postmortem imaging studies may provide useful information.

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