Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance

The exceptional observation of a healthy couple with two girls and a boy suffering from pulmonary hypoplasia and two normal children is reported. The affected infants died 1, 2 and 20 h after birth respectively. No other malformations were found. Histological findings suggest that the underdevelopment of the lungs has its origin at a more proximal level than the terminal bronchioles. Autosomal recessive inheritance is suggested.