Bilateral squamosal synostosis: unusual presentation of chromosome 1p12-1p13.3 deletion. Illustrative case
Sarut Chaisrisawadisuk1,2, Nithiwat Vatanavicharn3, Verayuth Praphanphoj4
1Division of Plastic Surgery, Department of Surgery, and.
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.
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