Journal
PRENATAL DIAGNOSIS
Volume 42, Issue 12, Pages 1511-1513Publisher
WILEY
DOI: 10.1002/pd.6164
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Funding
- National Key R&D Program of China [2017YFC0211705, 2017YFC0113905]
- Key R&D Program of Science and Technology Department of Sichuan Province [2019YFS0403, 19ZDYF1169]
- Popularization and Application Project of the Sichuan Health and Family Planning Commission [17PJ415]
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This study demonstrates the possibility of identifying the specific facial features of Cornelia de Lange syndrome (CdLS) in the early second trimester through ultrasound imaging.
Key points What's already known about this topic? The earliest reported prenatal ultrasound findings of facial features in Cornelia de Lange syndrome (CdLS) were before 20 weeks of gestation. What does this study add? This study showed the typical facial and head features of CdLS, including a smooth long philtrum and thin upper lip, a small upturned nose and anteverted nostrils, low-set ears, and retrognathia. Recognizing the specific facial features of CdLS on two-dimensional and three-dimensional ultrasound is possible in the early second trimester.
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