额鼻发育不良畸形的产前超声诊断并文献回顾

Prenatal diagnosis of frontonasal dysplasia by ultrasound and review of literature

目的探讨胎儿额鼻发育不良畸形的产前超声声像图特征。方法对1例怀疑脑积水的胎儿行系统产前超声检查,超声诊断为额鼻发育不良畸形,总结胎儿面部结构产前超声声像图特点,与引产后的胎儿染色体、病理检查结果进行对比分析,并对额鼻发育不良畸形相关文献进行回顾。结果胎儿额鼻发育不良畸形产前超声声像图典型表现为鼻尖缺如,两侧鼻孔间距增大,鼻根部扁平,眼距增宽。结论产前超声可以检出典型声像图特征的额鼻发育不良畸形。在检出鼻尖异常时,应注意识别是否为额鼻发育不良畸形所致。

Objective To assess the prenatal features of frontonasal dysplasia （FND） by ultrasound. Methods The prenatal uhrasonogram of a fetus, which was misdiagnosed as hydrocephalus,was retrospectively reviewed. The prenatal characteristics were summarized by ultrasound, and compared with those of autopsy. Literatures referring to the prenatal diagnosis of such abnormality were reviewed. Results The nasal deformities in this dysplasia sequence included broad nasion, a midline cleft in the bony nasal dorsum, unilateral or bilateral cleft of the alae nasi, notching or coloboma of the nostrils, S-shaped deformity of the nasal septum, and lack of nasal septal cartilage. Con clusion FND has characteristic ultrasound imaging and can be diagnosed by prenatal sonography.