Gutowski N J, Chilton J K
Department of Neurology, Royal Devon and Exeter Foundation Hospital, Exeter, UK University of Exeter Medical School, Exeter, UK.
University of Exeter Medical School, Exeter, UK.
Arch Dis Child. 2015 Jul;100(7):678-81. doi: 10.1136/archdischild-2014-307035. Epub 2015 Jan 29.
Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance.
先天性颅神经支配障碍（CCDD）包括一系列相关病症，其中有杜安综合征、先天性眼外肌纤维化、莫比乌斯综合征、先天性上睑下垂和遗传性先天性面瘫。这些是先天性疾病，其主要表现为非进行性，由颅神经/神经核的发育异常以及原发性或继发性神经支配异常引起。现已发现多个CCDD基因，这增进了我们对脑干发育和轴突导向所涉及机制的理解。
