2型普费弗综合征合并颈项透明层增厚的产前诊断
Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.
作者信息
Hu Zhi-Yang, Lin Sheng-Mou, Zhu Meng-Jie, Cheung Cindy Ka-Yee, Liu Tao, Zhu Jin
机构信息
Department of Obstetrics Shenzhen People's Hospital Shenzhen China.
Department of Obstetrics and Gynecology The University of Hong Kong - Shenzhen Hospital Shenzhen China.
出版信息
Clin Case Rep. 2021 Oct 25;9(10):e05001. doi: 10.1002/ccr3.5001. eCollection 2021 Oct.
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.
摘要
Pfeiffer综合征（PS）是一种罕见的常染色体显性遗传病，其特征为颅缝早闭、拇指/脚趾宽大。在此，我们报告一例孕早期颈部透明带增厚的2型Pfeiffer综合征病例。
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