Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

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.

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Bibliographic Details
Main Authors: Zhi‐yang Hu, Sheng‐mou Lin, Meng‐jie Zhu, Cindy Ka‐Yee Cheung, Tao Liu, Jin Zhu
Format: article
Language:EN
Published: Wiley 2021
Subjects:
increased nuchal translucency
Pfeiffer syndrome
prenatal diagnosis
Medicine
R
Medicine (General)
R5-920
Online Access:https://doaj.org/article/fbbfec462e8d489bbd08ca942a57659a
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Description
Summary: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.

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