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.

Keywords: Pfeiffer syndrome; increased nuchal translucency; prenatal diagnosis.