Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.
22q11del
Cebalid syndrome
Meier-Gorlin syndrome
Muenke syndrome
frontosphenoidal
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
revised:
22
06
2023
received:
21
04
2023
accepted:
28
06
2023
medline:
21
9
2023
pubmed:
8
7
2023
entrez:
8
7
2023
Statut:
ppublish
Résumé
Isolated frontosphenoidal craniosynostosis (IFSC) is a rare congenital defect defined as premature fusion of the frontosphenoidal suture in the absence of other suture fusion. Until now, IFSC was regarded as a phenomenon with an unclear genetic etiology. We have identified three cases with IFSC with underlying syndromic diagnoses that were attributable to pathogenic mutations involving FGFR3 and MN1, as well as 22q11.2 deletion syndrome. These findings suggest a genetic predisposition to IFSC may exist, thereby justifying the recommendation for genetic evaluation and testing in this population. Furthermore, due to improved imaging resolution, cases of IFSC are now readily identified. With the identification of IFSC with underlying genetic diagnoses, in combination with significant improvements in imaging resolution, we recommend genetic evaluation in children with IFSC.
Identifiants
pubmed: 37421219
doi: 10.1002/ajmg.a.63348
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
2651-2655Informations de copyright
© 2023 Wiley Periodicals LLC.
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