Fryns syndrome is a rare autosomal recessive syndrome characterized by dysmorphic facial features, diaphragmatic hernia, distal limb hypoplasia, and pulmonary hypoplasia. A case of Fryns syndrome diagnosed prenatally at 16 weeks is presented. The diagnosis was confirmed on autopsy with the additional finding of fused adrenal glands.
ASJC Scopus subject areas
- Radiological and Ultrasound Technology
- Radiology Nuclear Medicine and imaging