Familial occurrence of complete agenesis of the diaphragm.

The tenth occurrence of complete unilateral agenesis of the diaphragm (McKusick 22240) in siblings is reported in this study. It is likely that parents of children with this type of congenital diaphragmatic hernia have a significantly increased recurrence risk for future offspring. Genetic counselling and antenatal ultrasound should be considered for subsequent pregnancies in families with a previous child with complete agenesis of the diaphragm.