Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Autor: Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Kawamura R; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan., Hosoki K; Department of Molecular Medicine, Reserch Institute, Osaka Women's and Children's Hospital, Izumi, Japan., Hasegawa Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.; Department of Molecular Medicine, Reserch Institute, Osaka Women's and Children's Hospital, Izumi, Japan.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 268-278. Date of Electronic Publication: 2023 Oct 10.
DOI: 10.1002/ajmg.a.63424
Abstrakt: Kabuki syndrome (KS) is characterized by growth impairment, psychomotor delay, congenital heart disease, and distinctive facial features. KMT2D and KDM6A have been identified as the causative genes of KS. Craniosynostosis (CS) has been reported in individuals with KS; however, its prevalence and clinical implications remain unclear. In this retrospective study, we investigated the occurrence of CS in individuals with genetically diagnosed KS and examined its clinical significance. Among 42 individuals with genetically diagnosed KS, 21 (50%) exhibited CS, with 10 individuals requiring cranioplasty. No significant differences were observed based on sex, causative gene, and molecular consequence among individuals with KS who exhibited CS. Both individuals who underwent evaluation with three-dimensional computed tomography (3DCT) and those who required surgery tended to exhibit cranial dysmorphology. Notably, in several individuals, CS was diagnosed before KS, suggesting that CS could be one of the clinical features by which clinicians can diagnose KS. This study highlights that CS is one of the noteworthy complications in KS, emphasizing the importance of monitoring cranial deformities in the health management of individuals with KS. The findings suggest that in individuals where CS is a concern, conducting 3DCT evaluations for CS and digital impressions are crucial.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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