Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

Zhi-Yang Hu; Sheng-Mou Lin; Meng-Jie Zhu; Cindy Ka-Yee Cheung; Tao Liu; Jin Zhu

doi:10.1002/ccr3.5001

Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

Clin Case Rep. 2021 Oct 25;9(10):e05001. doi: 10.1002/ccr3.5001. eCollection 2021 Oct.

Authors

Zhi-Yang Hu¹, Sheng-Mou Lin^{2

3}, Meng-Jie Zhu², Cindy Ka-Yee Cheung², Tao Liu⁴, Jin Zhu⁵

Affiliations

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.

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.

Keywords: Pfeiffer syndrome; increased nuchal translucency; prenatal diagnosis.

Publication types

Case Reports