Fryns syndrome in children with congenital diaphragmatic hernia.

PURPOSE

Fryns syndrome is characterized by multiple congenital anomalies including Congenital Diaphragmatic Hernia (CDH), and has a reported poor prognosis with a survival rate during the neonatal period of approximately 15%. This report details the management and outcome of patients with Fryns syndrome and CDH.

METHODS

Records of all liveborn patients with CDH between 1995 and 2001 in 83 hospitals were entered into the CDH database. Those with Fryns syndrome were reviewed retrospectively.

RESULTS

A total of 1,833 patients were entered in the database, 23 of these had Fryns (1.3%). All patients experienced early distress requiring intubation. Ten patients (43%) were found to have other major anomalies. Seven patients underwent surgical repair at an average age of 7.5 days (range, 6 hours to 14 days). Mortality rate was 83% compared with 33% of patients with unilateral CDH (P =.01). Ten patients died within the first 24 hours. The parents of 6 patients withdrew support. Of the 4 survivors, 3 have marked developmental delay, whereas the fourth has not yet undergone formal assessment.

CONCLUSIONS

The prognosis of infants with Fryns syndrome and congenital diaphragmatic hernia remains grim. Early genetic counseling and recognition of lethal anomalies may assist in determining which patients may survive.