A case of Fraser Syndrome Diagnosed by Ultrasound as a Single Modality; Necessity of Genetic Confirmation?

Abstract

Fraser syndrome is a rare genetic disorder characterized by multiple structural abnormalities, above all of which are cryptophthalmos and syndactyly. According to reviews of reported cases, diagnostic criteria have been established. Here, we report a case of 18 weeks pregnancy diagnosed with Fraser syndrome presenting with cryptophthalmos, syndactyly, kidney agenesis, and hyper-echogenic lungs during an ultrasound examination. The pregnancy was terminated, and diagnostic features of the syndrome were confirmed afterward. Since the imaging characteristics are unique, it is of value that clinicians become familiar with the appearance of the syndrome to provide families with the opportunity to make timely decisions regarding pregnancy termination and use the prenatal diagnostic tools to have healthy children in subsequent pregnancies.