Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

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

doi:10.1212/wnl.0b013e318208f492

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Hanna R. M., Marsh S. E., Swistun D., Al-Gazali L., Zaki M. S., Abdel-Salam G. M., ...Daha Fazla

NEUROLOGY, cilt.76, sa.4, ss.373-382, 2011 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 76 Sayı: 4
Basım Tarihi: 2011
Doi Numarası: 10.1212/wnl.0b013e318208f492
Dergi Adı: NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.373-382
İstanbul Üniversitesi Adresli: Evet

Özet

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.