Bilateral Foramina Parietalia Permagna - A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review.


Journal

Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187

Informations de publication

Date de publication:
06 Mar 2024
Historique:
medline: 7 3 2024
pubmed: 7 3 2024
entrez: 6 3 2024
Statut: aheadofprint

Résumé

Foramina parietalia permagna (FPP) is a rare anatomical defect that affects the parietal bones of the human skull. FPP is characterized by symmetric perforations on either side of the skull, which are caused by insufficient ossification during embryogenesis. These openings are typically abnormally large and can range from a few millimeters to several centimeters in diameter. Enlarged foramina are often discovered incidentally during anatomical or radiological examinations and in most cases left untreated unless symptoms develop. Although this calvarial defect is usually asymptomatic, it may be accompanied by neurological or vascular conditions that can have clinical significance in certain cases. FPP is an inherited disorder and arises due to mutations in either Msh homeobox 2 (

Identifiants

pubmed: 38447947
doi: 10.1055/s-0044-1781465
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

None declared.

Auteurs

Niklas Kahl (N)

Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany.

Natalia Lüsebrink (N)

Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany.

Susanne Schubert-Bast (S)

Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany.

Thomas M Freiman (TM)

Department of Neurosurgery, Rostock University Medical Center, Rostock, Germany.

Matthias Kieslich (M)

Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany.

Classifications MeSH