Prenatal Diagnosis Center, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal.
Pathology Laboratory, CGC Genetics, Porto, Portugal.
J Clin Ultrasound. 2021 Feb;49(2):145-148. doi: 10.1002/jcu.22861. Epub 2020 May 6.
We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.
我们报告了一例轻度额鼻发育不良病例，这是一种复杂而罕见的面部中央畸形，主要影响眼睛、鼻子和额头，该病例在妊娠 20 周时被诊断出来。诊断通过二维和四维超声进行，并在妊娠终止后通过尸检得到证实。本文对文献进行了回顾。
