Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis.

ABSTRACT:

Background

Some pathogenic variants in Smad6 are implicated in midline craniosynostosis, particularly in metopic synostosis. These variants increase the risk of both nonsyndromic and syndromic presentations. Craniosynostosis, whether treated surgically or not, can be associated with developmental delays.

Methods

The authors aimed to assess developmental outcomes in children with craniosynostosis carrying a Smad6 variant. A cohort of children who underwent craniosynostosis surgery at the national reference center for craniosynostosis at Lyon University Hospital (2018-2023) was studied. Children with Smad6 variants were followed postsurgery to evaluate their neuropsychological development. Evaluations were conducted by a multidisciplinary team comprising neurosurgeons, clinica

SUBMITTER: Verlut I 

PROVIDER: S-EPMC12537030 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature