Author/Authors :
AlFaleh, Khalid MacMaster University, Hamilton, Ontario - Hospital for Sick Children - Division of Neonatology, Canada , Lee, Kyong-Soon MacMaster University, Hamilton, Ontario - Hospital for Sick Children - Division of Neonatology, Canada , Ramsay, Jennifer MacMaster University, Hamilton, Ontario - Hospital for Sick Children - Division of Neonatology, Canada , Nowaczyk, Margaret MacMaster University, Hamilton, Ontario - Hospital for Sick Children - Division of Neonatology, Canada
Abstract :
Congenital diaphragmatic hernia (CDH) is a congenital malformation that has a reported incidence ranging from 2.4 to 4.1 in 10 000 births.1,2 Survival of infants with CDH is dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal abnormalities. Despite advances in neonatal care, a mortality rate of 33% is still reported with isolated CDH, predominantly due to hypoxic respiratory failure secondary to pulmonary hypoplasia.3 Chromosomal abnormalities have been observed in 18% to 47% of cases of CDH and these patients frequently have associated malformations.2,4 The mode of inheritance of isolated non-syndromic CDH is unknown. We present two siblings with lethal CDH born within a 30-month period. The clinical course in these two infants is described and the possible mode of inheritance for CDH in this family is reviewed.
