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Article

First case of pan-suture craniosynostosis due to de novo mosaic KAT6A mutation.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jan 2022

Korakavi Nisha, Bupp Caleb, Grysko Bethany, Juusola Jane, Borta Chelsea, Madura Casey

Abstract excerpt

A nonverbal 3-year-old male with a complex past medical history was referred to pediatric neurosurgery for evaluation of Chiari I malformation. A full clinical evaluation suggested that the "Chiari" was a secondary change caused by craniocerebral disproportion that was the result of delayed pan-sutural craniosynostosis. Given his unknown cause of craniosynostosis, whole-exome sequencing (WES) was performed. WES...

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Identifiers

PMID: 33770237
DOI: 10.1007/s00381-021-05111-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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