Understanding normocephalic craniosynostosis: a case-control study on prevalence, clinical features, and...

This study investigates normocephalic craniosynostosis (NC), a condition characterised by the premature fusion of cranial sutures without visible cranial deformities, which may be associated with significant neurodevelopmental risks.

A case-control study was conducted involving patients aged 1 to 20 years with incidental diagnoses via CT scans. We collected comprehensive data from electronic medical records, including demographics, CT characteristics, neurological symptoms, and comorbidities.

The study included 42 NC cases and 41 controls with patent cranial sutures. The average cephalic index was 81.7% in NC cases and 81.2% in controls, with no significant difference (p = 0.44). The mean age at scanning was similar between groups (11.7 years for NC versus 11.3 years for controls, p = 0.29). Notably, a marked male predominance was observed among NC cases (83.3% versus 56.1% in controls, p = 0.01). Additionally, a history of abnormal neurological issues was more common in the NC group (35.7%) compared to 19.5% in controls. A family history of abnormal neurodevelopment was noted in 4.8% of NC cases and was absent in controls; however, the difference was not statistically significant (p = 0.08).

These findings underscore the possible pathological implications of NC, emphasising the need for enhanced clinical vigilance and thorough monitoring. A multidisciplinary approach is crucial in evaluating and managing these patients to ensure optimal care and enhance understanding of NC, despite the absence of external cranial deformities.