Colombia University Clinic, International Sanitas Organization, Bogotá, Colombia.
Neuroimaging Clin N Am. 2011 Aug;21(3):429-82, vii. doi: 10.1016/j.nic.2011.05.001.
Considering the complexity of congenital midline abnormalities of the brain, it is mandatory to review and summarize the subject, based on embryologic development, developmental biology, clinical approach, neuroimaging, and molecular genetics. There are still several areas of poor knowledge, confusion, and controversy. Pathogenesis in some cases is not clearly understood, and definitions and limits among different diseases are not apparent. This article reviews several malformations of the skull and brain with the aims of making image interpretation easier, enabling an accurate diagnosis, establishing the prognosis, and aiding in genetic counseling.
鉴于脑中线先天性异常的复杂性,有必要基于胚胎发育、发育生物学、临床方法、神经影像学和分子遗传学来回顾和总结这一主题。目前仍有一些领域的知识匮乏、存在混淆和争议。某些情况下的发病机制尚不清楚,不同疾病之间的定义和界限也不明显。本文回顾了几种颅骨和脑畸形,目的是使图像解读更加容易,能够做出准确的诊断,确定预后,并提供遗传咨询。