Advance in diagnosis and treatment of craniofrontonasal syndrome / 中华整形外科杂志

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.