Cusick W, Sullivan C A, Rojas B, Poole A E, Poole D A
Stamford Hospital, Division of Matemal-Fetal Medicine, CT 06612, USA.
Ultrasound Obstet Gynecol. 2000 Mar;15(3):259-61. doi: 10.1046/j.1469-0705.2000.00081.x.
Complete or total arhinia, in which there is absence of the soft tissue of the nose, is extremely rare. The embryological origin of the defect is thought to be maldevelopment of the paired nasal placodes. Available neonatal case descriptions have reported the frequent coexistence of other facial anomalies. This report is the first to describe the antenatal diagnosis of total arhinia confirmed after delivery. Sonographic views of the fetal profile, showing an absence of the nose led to consideration of the diagnosis.
完全性或整体性无鼻畸形,即不存在鼻部软组织,极为罕见。该缺陷的胚胎学起源被认为是成对鼻基板发育不良。现有的新生儿病例描述报告了其他面部异常的频繁共存。本报告首次描述了经产后证实的完全性无鼻畸形的产前诊断。胎儿侧面的超声图像显示无鼻,从而引发了对该诊断的考虑。