Congenital laryngeal atresia associated with partial diaphragmatic obliteration

Laryngeal atresia is a rare, life-threatening congenital malformation. Prenatal sonographic diagnosis has been described; however, in many cases, the precise diagnosis is established only at autopsy. Our aim was to describe an atypical prenatal presentation of congenital laryngeal atresia in which the final diagnosis was made only at autopsy.

Sonographic and postmortem examinations were performed on a fetus with bilateral enlarged echogenic lung fields, an everted diaphragm, and polyhydramnios, which were initially noted on prenatal sonography at 26 weeks' gestation.

Unfortunately, the mother was lost to follow up at our inner-city clinic, thus precluding a definitive diagnosis. At birth, tracheostomy was not performed because of the anomalous appearance of the neonate and the suspicion of multiple congenital anomalies. Neonatal death occurred after 18 minutes of life. Autopsy revealed laryngeal atresia with a right hemidiaphragmatic defect and multiple other congenital anomalies.

This was a rare case with prenatal sonographic findings in a fetus with congenital laryngeal atresia associated with partial diaphragmatic obliteration.