Prenatal Ultrasound Diagnosis of Congenital Diaphragmatic Hernia in a Fetus With Fryns "Anophthalmia-Plus" Syndrome:...

Fryns syndrome is an extremely rare autosomal recessive disorder and is characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal limb hypoplasia, pulmonary hypoplasia, and characteristic-associated anomalies that lead to a high mortality rate. We present a prenatally diagnosed new case of Fryns "anophthalmia-plus" syndrome (FAPS) in a 41-year-old pregnant woman. An ultrasonographic examination at 22 weeks of gestation demonstrated left CDH with mediastinal shift, hypoplastic thorax with presumptive pulmonary hypoplasia, craniofacial anomalies, left anophthalmia, and distal limb hypoplasia. A genetic analysis of the fetal karyotype was held, which was negative for any known chromosomal or single gene abnormalities. After genetic counseling about the risks associated with these ultrasonographic findings, the parents opted for pregnancy termination. Timely identification or suspicion of Fryns syndrome during the early stages of pregnancy could facilitate parental guidance and enable the development of suitable strategies for prenatal treatment and/or perinatal care.