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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Autores principales:	Zhi‐yang Hu, Sheng‐mou Lin, Meng‐jie Zhu, Cindy Ka‐Yee Cheung, Tao Liu, Jin Zhu
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	increased nuchal translucency Pfeiffer syndrome prenatal diagnosis Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/fbbfec462e8d489bbd08ca942a57659a
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spelling	oai:doaj.org-article:fbbfec462e8d489bbd08ca942a57659a2021-12-02T07:55:57ZPrenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency2050-090410.1002/ccr3.5001https://doaj.org/article/fbbfec462e8d489bbd08ca942a57659a2021-10-01T00:00:00Zhttps://doi.org/10.1002/ccr3.5001https://doaj.org/toc/2050-0904Abstract 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.Zhi‐yang HuSheng‐mou LinMeng‐jie ZhuCindy Ka‐Yee CheungTao LiuJin ZhuWileyarticleincreased nuchal translucencyPfeiffer syndromeprenatal diagnosisMedicineRMedicine (General)R5-920ENClinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	increased nuchal translucency Pfeiffer syndrome prenatal diagnosis Medicine R Medicine (General) R5-920
spellingShingle	increased nuchal translucency Pfeiffer syndrome prenatal diagnosis Medicine R Medicine (General) R5-920 Zhi‐yang Hu Sheng‐mou Lin Meng‐jie Zhu Cindy Ka‐Yee Cheung Tao Liu Jin Zhu Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
description	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.
format	article
author	Zhi‐yang Hu Sheng‐mou Lin Meng‐jie Zhu Cindy Ka‐Yee Cheung Tao Liu Jin Zhu
author_facet	Zhi‐yang Hu Sheng‐mou Lin Meng‐jie Zhu Cindy Ka‐Yee Cheung Tao Liu Jin Zhu
author_sort	Zhi‐yang Hu
title	Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
title_short	Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
title_full	Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
title_fullStr	Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
title_full_unstemmed	Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
title_sort	prenatal diagnosis of pfeiffer syndrome type 2 with increased nuchal translucency
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/fbbfec462e8d489bbd08ca942a57659a
work_keys_str_mv	AT zhiyanghu prenataldiagnosisofpfeiffersyndrometype2withincreasednuchaltranslucency AT shengmoulin prenataldiagnosisofpfeiffersyndrometype2withincreasednuchaltranslucency AT mengjiezhu prenataldiagnosisofpfeiffersyndrometype2withincreasednuchaltranslucency AT cindykayeecheung prenataldiagnosisofpfeiffersyndrometype2withincreasednuchaltranslucency AT taoliu prenataldiagnosisofpfeiffersyndrometype2withincreasednuchaltranslucency AT jinzhu prenataldiagnosisofpfeiffersyndrometype2withincreasednuchaltranslucency
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Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

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