Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

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.

Detalles Bibliográficos
Autores principales: Hu, Zhi‐yang, Lin, Sheng‐mou, Zhu, Meng‐jie, Cheung, Cindy Ka‐Yee, Liu, Tao, Zhu, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8543055/
https://www.ncbi.nlm.nih.gov/pubmed/34721862
http://dx.doi.org/10.1002/ccr3.5001
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author Hu, Zhi‐yang
Lin, Sheng‐mou
Zhu, Meng‐jie
Cheung, Cindy Ka‐Yee
Liu, Tao
Zhu, Jin
author_facet Hu, Zhi‐yang
Lin, Sheng‐mou
Zhu, Meng‐jie
Cheung, Cindy Ka‐Yee
Liu, Tao
Zhu, Jin
author_sort Hu, Zhi‐yang
collection PubMed
description 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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spelling pubmed-85430552021-10-29 Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency Hu, Zhi‐yang Lin, Sheng‐mou Zhu, Meng‐jie Cheung, Cindy Ka‐Yee Liu, Tao Zhu, Jin Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2021-10-25 /pmc/articles/PMC8543055/ /pubmed/34721862 http://dx.doi.org/10.1002/ccr3.5001 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Hu, Zhi‐yang
Lin, Sheng‐mou
Zhu, Meng‐jie
Cheung, Cindy Ka‐Yee
Liu, Tao
Zhu, Jin
Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
title 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_short Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
title_sort prenatal diagnosis of pfeiffer syndrome type 2 with increased nuchal translucency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8543055/
https://www.ncbi.nlm.nih.gov/pubmed/34721862
http://dx.doi.org/10.1002/ccr3.5001
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