[Advances in clinical and molecular genetics of congenital cranial dysinnervation disorders].
Congenital cranial dysinnervation disorders (CCDDs) are congenital non-progressive, sporadic or familial abnormalities of cranial musculature that result from developmental abnormalities of, or the complete absence of, one or more cranial nerves with primary or secondary muscle dysinnervation. These disorders include vertical disorders of ocular motility, horizontal disorders of ocular motility and disorders with abnormalities of facial motility that were previously referred to as "congenital fibrosis syndromes". The advances in clinical and molecular genetics of congenital cranial dysinnervation disorders are reviewed.
Zhao
Jun
J
Tianjin Medical University, Tianjin Eye Hospital, Tianjin, China.
Zhao
Kan-xing
KX
Tian
Yu-min
YM
D003391:Cranial Nerves / Q000002:abnormalities*; D005158:Facial Paralysis / Q000151:congenital / Q000235:genetics*; D006801:Humans; D009468:Neuromuscular Diseases / Q000151:congenital / Q000235:genetics; D009886:Ophthalmoplegia / Q000151:congenital / Q000235:genetics*