Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

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.

Bibliographic Details
Main Authors: Zhi‐yang Hu, Sheng‐mou Lin, Meng‐jie Zhu, Cindy Ka‐Yee Cheung, Tao Liu, Jin Zhu
Format: Article
Language:English
Published: Wiley 2021-10-01
Series:Clinical Case Reports
Subjects:
Online Access:https://doi.org/10.1002/ccr3.5001

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