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Case Reports
. 2021 Jan 18;1(3):CASE20102.
doi: 10.3171/CASE20102.

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

Sarut Chaisrisawadisuk  1   2 , Nithiwat Vatanavicharn  3 , Verayuth Praphanphoj  4 , Peter J Anderson  2   5 , Mark H Moore  2
Affiliations
Case Reports

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

Sarut Chaisrisawadisuk et al. J Neurosurg Case Lessons. .

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.

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Conflict of interest statement

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

Figures

FIG. 1.
FIG. 1.
Abnormal head shape, with bilateral bulging of the parietal regions.
FIG. 2.
FIG. 2.
3D-CT scans showing the fusion at both the parietosquamosal and parietomastoid sutures, with bulging of both parietal bones. Widening of the anterior fontanelle (4.6 × 4.6 cm) is present.
FIG. 3.
FIG. 3.
A: Whole-genome copy number variation and single-nucleotide polymorphism (SNP) views demonstrated copy number lost on chromosome 1 (arrows). B: 10.5-Mb heterozygous deletion on chromosome 1p12–1p13.3 confirmed by copy number probes (upper 3 tracks) and SNP probes (bottom track).
See this image and copyright information in PMC

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