The Role of Ultrasound in the Diagnosis of Fryns Syndrome

Fryns syndrome is an autosomal recessive genetic disorder characterized by craniofacial, thoracic, limb, genitourinary, gastrointestinal, and central nervous system abnormalities. This case demonstrates the role of sonography in detecting this entity in a fetus that demonstrated normal maternal serum screening and amniocentesis. In this case, there was no family history of this defect, the parents were not consanguineous, and an autopsy was unavailable.