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Facial profile and additional features in fetuses with trisomy 21.
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2018-7-10 , DOI: 10.1097/mcd.0000000000000234
Periyasamy Radhakrishnan , Shalini S. Nayak , Anju Shukla , Katta M. Girisha

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Here, we present the facial profile and additional features in six fetuses with Down syndrome as a visual aid. We present the facial photographs of six fetuses with genetically confirmed trisomy 21. These photographs will serve as a diagnostic aid for trisomy 21 in perinatal dysmorphology. We noted punctate calcifications in two fetuses with trisomy 21.

中文翻译:

21三体胎儿的面部轮廓和其他特征。

非整倍体发生在约5%的临床公认的怀孕中。面部格式塔是21三体症临床诊断的重要工具。面部异常在胎儿生活中微妙,对于不熟悉围产期畸形学的临床医生而言具有挑战性。在这里,我们介绍了患有唐氏综合症的六个胎儿的面部轮廓和其他特征,作为视觉辅助。我们提供了经遗传学证实为21三体性的6名胎儿的面部照片。这些照片将作为21三体性围产期畸形的诊断辅助。我们注意到两个21三体胎儿的点状钙化。
更新日期:2020-12-17
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