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.
Guardado en:
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: | |
Acceso en línea: | https://doaj.org/article/fbbfec462e8d489bbd08ca942a57659a |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
por: Su L, et al.
Publicado: (2021) -
Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
por: Prieto Belén, et al.
Publicado: (2020) -
Meningitis a Pfeiffer: Con especial referencia al tratamiento asociado penicilina-sulfa
por: MENEGHELLO,JULIO, et al.
Publicado: (1947) -
An Evaluation of Useful Daylight Illuminance in an Office Room with a Light Shelf and Translucent Ceiling at 51° N
por: Marcin Brzezicki
Publicado: (2021) -
Comparison between different breeds of laying hens in terms of eggshell translucency and its distribution in various ends of the eggshell
por: Han-Da Zhang, et al.
Publicado: (2021)