颅额鼻综合征的诊断及治疗进展

Advance in diagnosis and treatment of craniofrontonasal syndrome

颅额鼻综合征(craniofrontonasal syndrome/dysplasia,CFNS/CFND)是一种因单侧或双侧冠状缝早闭所致的颅面部畸形.女性以冠状缝早闭、眶距增宽、额部瘤样膨凸、鼻背增宽、鼻尖分裂、指甲凹槽、胼胝体发育不良等为主要表现,而男性大多仅表现为眶距增宽、鼻背增宽、并指等.女性发病率远高于男性.其为X染色体相关遗传性疾病,多由EFNB1基因突变引起.由于其典型的临床表现、特有的遗传特点、复杂且序贯性治疗策略,让人们逐渐认识到颅额鼻综合征是一类较为独特的疾病.颅额鼻综合征诊疗报道有限,目前尚未得到业界的普遍认知.该文对颅额鼻综合征的诊断及治疗进展进行了综述.

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.