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

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.

SUBMITTER: Chaisrisawadisuk S

PROVIDER: S-EPMC9394163 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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

Chaisrisawadisuk Sarut S Vatanavicharn Nithiwat N Praphanphoj Verayuth V Anderson Peter J PJ Moore Mark H MH

Journal of neurosurgery. Case lessons 20210118 3

<h4>Background</h4>Squamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.<h4>Observations</h4>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 abnorm ...[more]

PMID: 36034505

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