ArticleTranslational pediatrics2025
Isolated frontosphenoidal craniosynostosis with pathogenic
Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Isolated frontosphenoidal craniosynostosis (IFSC) is rare, historically misdiagnosed as coronal synostosis due to phenotypic overlap. Traditionally viewed as sporadic, its genetic basis was largely unexplored. Recent identification of pathogenic Case Description: This case report presents a rare instance of IFSC in a 10-month-old female infant, characterized by severe plagiocephaly due to premature fusion of the frontosphenoidal suture. Through high-resolution three-dimensional computed tomography imaging, the diagnosis was confirmed, and genetic testing revealed a heterozygous pathogenic Conclusions: This case highlights the importance of molecular genetic testing in nonsyndromic craniosynostosis and the potential role of
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