Case report describes the neurodevelopmental outcomes in an individual with EFNB1-related syndrome and unrepaired craniosynostosis, suggesting notable implications.
The craniofrontonasal syndrome in the individual presented in this report is explained by the EFNB1 variant. The affected individual did not have surgical correction of her craniosynostosis, which might have contributed to her development of microcephaly and mild intellectual disability.
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Assing et al. (2026) studied this question.
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