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Article

Bilateral coronal craniosynostosis with novel TWIST1 mutation.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 9 May 2026

Ward Haven, Borna Sahar, Meltzer Rose, Nguyen Trucvy, Trudel Shoshana, Sawh-Martinez Rajendra

Abstract excerpt

INTRODUCTION: Syndromic craniosynostosis is characterized by premature fusion of one or more cranial sutures, often in association with multisystem anomalies affecting the airway, cardiovascular, musculoskeletal, and neurodevelopmental systems. Variants in genes such as TWIST1 contribute to phenotypic heterogeneity and may influence surgical timing, risk stratification, and long-term craniofacial planning. We...

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Identifiers

PMID: 42104108
DOI: 10.1007/s00381-026-07262-4

Genes

TWIST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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