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 a
uthors report on a family in which three children had diaphragmatic he
rnia diagnosed prenatally. The first child died of severe pulmonary hy
poplasia in the neonatal period. The second survived after diaphragmat
ic hernia repair, and was found to have Fryns syndrome based on the sp
ectrum of associated anomalies and the family history. He has done wel
l except for significant gastroesophageal reflux, mild developmental d
elay, and mild hypotonia. The third child's diaphragmatic hernia was d
iagnosed early during fetal life, and the parents chose to terminate t
he pregnancy. These cases illustrate the spectrum of Fryns syndrome an
d the importance of a family history in patients with congenital diaph
ragmatic hernia. This is the first report of survival of a patient wit
h Fryns syndrome without severe mental retardation. Copyright (C) 1994
by W.B. Saunders Company