Open AccessPrenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
Author(s) -
Hu Zhiyang,
Lin Shengmou,
Zhu Mengjie,
Cheung Cindy KaYee,
Liu Tao,
Zhu Jin
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5001
Subject(s) - medicine , nuchal translucency , nuchal translucency measurement , prenatal diagnosis , genetic disorder , craniosynostosis , obstetrics , pediatrics , fetus , pregnancy , surgery , genetics , disease , biology
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.