Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.
Zhi-Yang HuSheng Mou LinMeng-Jie ZhuCindy Ka-Yee CheungTao LiuJin ZhuPublished in: Clinical case reports (2021)
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.