Familial severe congenital diaphragmatic hernia: Left herniation in one sibling and bilateral herniation in another

摘要

Familial congenital diaphragmatic hernia (CDH) is extremely rare; it comprises about 2% of all CDH cases. The empirical risk is about 2%, increasing to 10% in a family with two affected children. This report describes severe CDH in two siblings who had been diagnosed prenatally. The female newborn diagnosed with left CDH prenatally was born at 38 weeks of gestation. Despite surgical repair and intensive treatment, she died 10 days after birth. Her younger brother was born at 39 weeks of gestation after being diagnosed with bilateral CDH prenatally, and died 75 min after birth. Both infants had neither other congenital anomaly nor chromosomal abnormalities. Their parents are healthy without consanguinity. Their first daughter and the fourth child have no congenital anomalies. Congenital diaphragmatic hernia (CDH) is a relatively common congenital malformation that occurs in one per 2500-4000 births. The mortality rate is reported as 30-60% (Harrison et al. 1994; Langham et al. 1996; Nobuhara et al. 1996). There are several different types of CDH, including Bochdalek, Morgagni and central diaphragmatic hernia (Stokes 1991).