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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