Background and purpose: Nonsyndromic clefts of the lip and palate (CLP) are developmental craniofacial abnormalities that are often associated with cognitive dysfunction. This study was designed to evaluate, in patients with CLP, the presence of a specific midline brain anomaly (enlarged cavum septi pellucidi [CSP]) that has been shown in other developmental syndromes to be related to poor cognitive function.
Methods: Brain images were obtained using magnetic resonance imaging on 49 adult men with CLP and 75 healthy controls. Size of CSP was measured using consecutive coronal images.
Results: The incidence of large CSP in the CLP group was 8% (4 of 49), significantly higher than that found in the control group. In 2 of these 4 subjects, the anomaly was complete nonfusion of the septal leaflets, known as a combined CSP and cavum vergae. Furthermore, there was a significant inverse relationship of IQ and CSP in CLP patients that was not present in controls. That is, in individuals with CLP, the larger the CSP, the lower the IQ.
Conclusions: Adult men with CLP have an increased prevalence of enlarged CSP. Moreover, this anomaly is directly related to cognitive deficits. This study provides further evidence that the development of the face and the development of the brain are intimately related and that defects in craniofacial development are most likely associated with defects in brain development.