Dergi makalesi Açık Erişim

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

2011    Hanna, R. M.; Marsh, S. E.; Swistun, D.; Al-Gazali, L.; Zaki, M. S.; Abdel-Salam, G. M.; Al-Tawari, A.; Bastaki, L.; Kayserili, H.; Rajab, A.; Boglarka, B.; Dietrich, R. B.; Dobyns, W. B.; Truwit, C. L.; Sattar, S.; Chuang, N. A.; Sherr, E. H.; Gleeson, J. G.

Objective: We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to create such a system have been hampered by highly variable morphology in patients with sporadic CCA. We reasoned that any useful strategy should classify affected family members within the same type, and that phenotypic variability should be minimized in patients with recessive disease.