Clinical features and airway management experience in an infant with Arboleda-Tham syndrome

Kumi Kataoka^{1

2}, Igor Luginbuehl^{3

4}

Affiliations

¹ Department of Anesthesia and Pain Medicine, The Hospital for Sick Children (SickKids), Toronto, ON, Canada. kumi.kataoka@sickkids.ca.
² Department of Anesthesiology and Pain Medicine, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. kumi.kataoka@sickkids.ca.
³ Department of Anesthesia and Pain Medicine, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.
⁴ Department of Anesthesiology and Pain Medicine, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

Kumi Kataoka et al. Can J Anaesth. 2025 Jun.

. 2025 Jun;72(6):1028-1029.

doi: 10.1007/s12630-025-02966-8. Epub 2025 May 20.

Kumi Kataoka^{1

2}, Igor Luginbuehl^{3

4}

¹ Department of Anesthesia and Pain Medicine, The Hospital for Sick Children (SickKids), Toronto, ON, Canada. kumi.kataoka@sickkids.ca.
² Department of Anesthesiology and Pain Medicine, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. kumi.kataoka@sickkids.ca.
³ Department of Anesthesia and Pain Medicine, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.
⁴ Department of Anesthesiology and Pain Medicine, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

No abstract available

Keywords: Arboleda−Tham syndrome; airway management; anesthesia; clinical features.

References

1. Arboleda VA, Lee H, Dorrani N, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet 2015; 96: 498–506. https://doi.org/10.1016/j.ajhg.2015.01.017 - DOI - PubMed - PMC
1. Tham E, Lindstrand A, Santani A, et al. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. Am J Hum Genet 2015; 96: 507–13. https://doi.org/10.1016/j.ajhg.2015.01.016 - DOI - PubMed - PMC
1. Bae S, Yang A, Kim J, Lee HJ, Park HK. Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review. BMC Med Genomics 2021; 14: 297. https://doi.org/10.1186/s12920-021-01148-x - DOI - PubMed - PMC
1. Wang Q, Zhang Y, Li L, Yang N. Diagnosis of Arboleda–Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay. Mol Genet Genomic Med 2024; 12: e2420. https://doi.org/10.1002/mgg3.2420 - DOI - PubMed - PMC
1. Bukvic N, Chetta M, Bagnulo R, et al. What have we learned from patients who have Arboleda–Tham syndrome due to a de novo KAT6A pathogenic variant with impaired histone acetyltransferase function? A precise clinical description may be critical for genetic testing approach and final diagnosis. Genes 2023; 14: 165. https://doi.org/10.3390/genes14010165 - DOI - PubMed - PMC