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.

引用

页数：5

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