Article
Lumbar hemivertebra associated with coronal craniosynostosis due to TCF12 mutation: an expansion of the axial skeletal phenotype.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 11 May 2026
Calle Miguel Caparrós, Palacios Juan Sánchez, Álvarez Jesús Gallego, Peist Ariel Goltzman
Abstract excerpt
INTRODUCTION: Mutations in TCF12 are identified in 10-20% of coronal craniosynostoses negative for TWIST1 and FGFR mutations, with autosomal dominant inheritance, incomplete penetrance, and wide phenotypic variability. The recognized phenotypic spectrum includes coronal synostosis, craniofacial dysmorphism, ptosis, strabismus, mild syndactyly, and neurocognitive alterations. However, axial skeletal segmentation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.