Bilateral squamosal synostosis: unusual presentation of chromosome 1p12-1p13.3 deletion. Illustrative case.

BACKGROUND

Squamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.

OBSERVATIONS: The authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12-1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality.

LESSONS: Isolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12-1p13.3 deletion.