Fryns syndrome: A rare familial cause of congenital diaphragmatic hernia

Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic hernia and multiple anomalies. Almost all infants have died at birth, and survivors have had severe mental retardation. The authors report on a family in which three children had diaphragmatic hernia diagnosed prenatally. The first child died of severe pulmonary hypoplasia in the neonatal period. The second survived after diaphragmatic hernia repair, and was found to have Fryns syndrome based on the spectrum of associated anomalies and the family history. He has done well except for significant gastroesophageal reflux, mild developmental delay, and mild hypotonia. The third child's diaphragmatic hernia was diagnosed early during fetal life, and the parents chose to terminate the pregnancy. These cases illustrate the spectrum of Fryns syndrome and the importance of a family history in patients with congenital diaphragmatic hernia. This is the first report of survival of a patient with Fryns syndrome without severe mental retardation.