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

Sarut Chaisrisawadisuk; Nithiwat Vatanavicharn; Verayuth Praphanphoj; Peter J Anderson; Mark H Moore

doi:10.3171/CASE20102

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

J Neurosurg Case Lessons. 2021 Jan 18;1(3):CASE20102. doi: 10.3171/CASE20102.

Authors

Sarut Chaisrisawadisuk^{1

2}, Nithiwat Vatanavicharn³, Verayuth Praphanphoj⁴, Peter J Anderson^{2

5}, Mark H Moore²

Affiliations

¹ Division of Plastic Surgery, Department of Surgery, and.
² Cleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, South Australia, Australia; and.
³ Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁴ Medical Genetics Center, Sai Mai District, Bangkok, Thailand.
⁵ Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.

Abstract

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.

Keywords: 3D-CT = three-dimensional computed tomography; FGFR2 = fibroblast growth factor receptor 2; HMG = hydroxymethylglutaryl; chromosome 1p12–1p13.3 deletion; cranial sutures; craniosynostosis.

Publication types

Case Reports