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...

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Detalles Bibliográficos
Autores principales: Chaisrisawadisuk, Sarut, Vatanavicharn, Nithiwat, Praphanphoj, Verayuth, Anderson, Peter J., Moore, Mark H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Neurological Surgeons 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394163/
https://www.ncbi.nlm.nih.gov/pubmed/36034505
http://dx.doi.org/10.3171/CASE20102
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author Chaisrisawadisuk, Sarut
Vatanavicharn, Nithiwat
Praphanphoj, Verayuth
Anderson, Peter J.
Moore, Mark H.
author_facet Chaisrisawadisuk, Sarut
Vatanavicharn, Nithiwat
Praphanphoj, Verayuth
Anderson, Peter J.
Moore, Mark H.
author_sort Chaisrisawadisuk, Sarut
collection PubMed
description 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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spelling pubmed-93941632022-08-25 Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case Chaisrisawadisuk, Sarut Vatanavicharn, Nithiwat Praphanphoj, Verayuth Anderson, Peter J. Moore, Mark H. J Neurosurg Case Lessons Case Report 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. American Association of Neurological Surgeons 2021-01-18 /pmc/articles/PMC9394163/ /pubmed/36034505 http://dx.doi.org/10.3171/CASE20102 Text en © 2021 The authors, https://creativecommons.org/licenses/by-nc-nd/4.0/CC BY-NC-ND 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Case Report
Chaisrisawadisuk, Sarut
Vatanavicharn, Nithiwat
Praphanphoj, Verayuth
Anderson, Peter J.
Moore, Mark H.
Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case
title Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case
title_full Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case
title_fullStr Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case
title_full_unstemmed Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case
title_short Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case
title_sort bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. illustrative case
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394163/
https://www.ncbi.nlm.nih.gov/pubmed/36034505
http://dx.doi.org/10.3171/CASE20102
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