Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency |
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| Authors: | Zhi‐ yang Hu,Sheng‐ mou Lin,Meng‐ jie Zhu,Cindy Ka‐ Yee Cheung,Tao Liu,Jin Zhu |
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| Affiliation: | 1. Department of Obstetrics, Shenzhen People’s Hospital, Shenzhen China ; 2. Department of Obstetrics and Gynecology, The University of Hong Kong ‐ Shenzhen Hospital, Shenzhen China ; 3. The First School of Clinical Medicine, Southern Medical University, Guangzhou China ; 4. Department of Ultrasound, Shenzhen People’s Hospital, Shenzhen China ; 5. Department of Radiology, Shenzhen People’s Hospital, Shenzhen China |
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| Abstract: | Pfeiffer syndrome (PS) is a rare autosomal dominant genetic disorder characterized by craniosynostosis, broad thumbs / toes. Here, we report a case of PS type 2 with increased nuchal translucency in early trimester. |
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| Keywords: | increased nuchal translucency Pfeiffer syndrome prenatal diagnosis |
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