A previously undescribed co-occurrence between a paternally inherited 2q13 multi-gene duplication and familial late-onset craniosynostosis is reported, suggesting the duplication may serve as a genetic susceptibility factor that disrupts postnatal cranial suture maintenance.
Abstract
Although 2q13 copy number variants are frequently linked to neurodevelopmental delays, this is the first report linking them to cranial suture pathology.
A previously undescribed co-occurrence between a paternally inherited 2q13 multi-gene duplication and familial late-onset craniosynostosis is reported. Four siblings carrying the duplication presented with craniosynostosis, demonstrating variable phenotypic expression ranging from single-suture to multi-suture involvement. Conversely, a fifth sibling without the duplication was unaffected.
This familial recurrence suggests the duplication may serve as a genetic susceptibility factor that disrupts postnatal cranial suture maintenance. This dynamic potentially predisposes patients to secondary fusion in the setting of altered intracranial pressure. These findings expand the phenotypic spectrum of 2q13 duplications and underscore the value of genomic evaluation in atypical craniosynostosis to guide clinical and surgical management.
Craniosynostosis, marked by premature fusion of the cranial sutures, leads to abnormal head shapes and possible neurological complications. This report describes a 4-year-and-2-month-old boy diagnosed with pancraniosynostosis who presented with progressive forehead protrusion 11 months after initial cranial suture reco...
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