颅额鼻发育不良, 　临床表现, 　遗传机制, 　外科治疗

Craniofrontonasal dysplasia is a congenital craniofacial development disorder with special X-linked inheritance， its clinical manifestations are highly variable， and the manifestations of female and male patients are different. The number and severity of clinical manifestations of the former are significantly higher than those of the latter. Since it was reported in 1979 by Cohen， people have conducted in-depth exploration of its clinical manifestations， genetic mechanism and surgical treatment methods， promoting the understanding and treatment of the disease. However， at present， people's understanding of craniofrontonasal dysplasia is still relatively limited， and surgical treatment often fails to achieve satisfactory results， besides， there are few literature reports on it. In this paper， the clinical manifestation， genetic mechanism and surgical treatment of craniofrontonasal dysplasia were reviewed， in order to raise awareness of craniofrontonasal dysplasia.

Craniofrontonasal dysplasia, Clinical manifestation, Genetic mechanism, Surgical treatment