Understanding normocephalic craniosynostosis: a case–control study on prevalence, clinical features, and neurodevelopmental challenges

Abstract

Purpose: 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. Methods: 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. Results: 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). Conclusions: 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.