Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.

Autor: Hodapp M; University of Nevada, Las Vegas School of Medicine, Las Vegas, Nevada, USA., Hing AV; Seattle Children's Craniofacial Center, Seattle Children's Hospital, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Gallagher E; Seattle Children's Craniofacial Center, Seattle Children's Hospital, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Blessing M; Seattle Children's Craniofacial Center, Seattle Children's Hospital, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Cunningham ML; Seattle Children's Craniofacial Center, Seattle Children's Hospital, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Oct; Vol. 191 (10), pp. 2651-2655. Date of Electronic Publication: 2023 Jul 08.
DOI: 10.1002/ajmg.a.63348
Abstrakt: 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.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: