背景:额鼻突发育不良(FND)是一种罕见的先天性异常,由额鼻突发育不足引起,它可以是综合征或非综合征。FND的典型特征包括畸形的鼻子和眼睛近视,有时与唇裂和/或腭裂有关。在过去的30年中,仅报告了大约10例产前诊断为非综合征性FND的病例。
方法:一名33岁女性(G2P1)在妊娠20周时因双侧脑积水被转诊到我们中心。我们检测到了FND的典型特征,包括严重的听力亢进,正中鼻双向度,轻微的唇裂,和使用三维(3D)超声的多个肢体异常。胼胝体发育不良,单侧小生症,还发现了室间隔缺损。基因检测,包括核型分析,拷贝数变异(CNV)分析,三全外显子组测序(trio-WES),和三全基因测序(trio-WGS),执行;然而,与父母相比,我们在胎儿中没有发现任何从头基因变异。尸检证实了FND的产前诊断。
结论:本病例扩大了产前FND患者的广泛表型范围。3D超声是检测面部和肢体畸形的有用工具。
BACKGROUND: Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years.
METHODS: A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND.
CONCLUSIONS: The present
case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.