Agenesis of Corpus Callosum and Associated Malformations

Agenesis of the corpus callosum (ACC) is one of the more common brain malformations encountered by neonatologists and pediatricians. It may occur in isolation but more often is associated with other brain malformations. ACC also is a feature in >100 genetic syndromes. Fetal neuroimaging advances have allowed prenatal detection of callosal agenesis and associated anomalies in the brain and other organs. The outcome in ACC is varied and depends largely on the related anomalies and underlying etiology. This review discusses the etiologies and diagnosis of ACC and provides strategies for a more specific prenatal diagnosis, such as Aicardi and Zellweger syndromes.