Advance in diagnosis and treatment of craniofrontonasal syndrome
10.3760/cma.j.issn.1009-4598.2019.06.019
- VernacularTitle: 颅额鼻综合征的诊断及治疗进展
- Author:
Xiaoshuang GUO
1
;
Xiaolei JIN
Author Information
1. 16th Department, Plastic Surgery Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100144, China
- Publication Type:Review
- Keywords:
Caniosynostosis;
Cronal suture;
Orbital hypertelorism
- From:
Chinese Journal of Plastic Surgery
2019;35(6):617-621
- CountryChina
- Language:Chinese
-
Abstract:
Craniofrontonasal syndrome/dysplasia(CFNS/CFSD) is a rare X-linked malformation syndrome caused by EFNB1 gene mutations. It is characterized by unilateral or bilateral coronal craniosynostosis, hypertelorism, frontal bossing, broad or bifid nose, grooved nails, agennetic corpus callosum. Female are more commonly and more severely affected than males. Given the classic manifestation, specific hereditary, and complicated treatment, the diagnosis and treatment of CFNS is always a challenge. However, there is only a few studies related to CFNS, and consensus regarding its treatment has not been reached. Thereby, we summarized pertinent literatures and made a thorough review on the diagnosis and treatment of CFNS.
