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.

SUBMITTER: Hu ZY 

PROVIDER: S-EPMC8543055 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature