Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

被引：1
|
作者：
Hu, Zhi-yang [1 ]
Lin, Sheng-mou [2 ,3 ]
Zhu, Meng-jie [2 ]
Cheung, Cindy Ka-Yee [2 ]
Liu, Tao [4 ]
Zhu, Jin [5 ]
机构：
[1] Shenzhen Peoples Hosp, Dept Obstet, Shenzhen, Peoples R China
[2] Univ Hong Kong, Shenzhen Hosp, Dept Obstet & Gynecol, Haiyuan 1st Rd,Futian Dist, Shenzhen, Peoples R China
[3] Southern Med Univ, Sch Clin Med 1, Guangzhou, Peoples R China
[4] Shenzhen Peoples Hosp, Dept Ultrasound, Shenzhen, Peoples R China
[5] Shenzhen Peoples Hosp, Dept Radiol, Shenzhen, Peoples R China
来源：
CLINICAL CASE REPORTS | 2021年 / 9卷 / 10期
关键词：
increased nuchal translucency; Pfeiffer syndrome; prenatal diagnosis; FGFR2; GENE; TRP290CYS MUTATION; CLOVERLEAF SKULL; CRANIOSYNOSTOSIS; PATIENT;
D O I：
10.1002/ccr3.5001
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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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页数：5
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