Bilateral pulmonary agenesis and microphthalmia

Abstract

We describe a stillborn boy with bilateral pulmonary agenesis associated with bilateral microphthalmia. The diagnosis defied antenatal ultrasonography and M-mode echocardiography. There were associated absence of bronchi, pleural cavities, pulmonary arteries, and veins; overriding of the aorta with high ventricular septal defect; a nodular vestige of the main pulmonary artery; and eventration of the left hemidiaphragm. The brain was normal to gross examination. Karyotype was 46,XY. Bilateral pulmonary agenesis is rare, this being only the third known case associated with deficiency of ocular tissue and the first such case in conjunction with a brain of normal gross structure. The cause is unknown.