Congenital complete absence (bilateral agenesis) of the diaphragm: a rare variant of congenital diaphragmatic hernia.

Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral absence of the diaphragm is a very rare variant, with six cases reported in the literature. A 1040 g black male infant was born at 27 weeks' gestation to a 28-year-old black woman with a history of minimal prenatal care and cocaine abuse during pregnancy. Apgar scores were 2/1/1/0/1 at 1, 5, 10, 15, and 20 minutes, respectively and efforts to resuscitate him were unsuccessful. He died at 2 1/2 hours of age. Autopsy showed complete absence of the diaphragm, pulmonary hypoplasia, and an atrial septal defect of the heart. Cytogenetic studies showed normal male karyotype. We suggest that decreased or interrupted blood supply to the developing diaphragm of this infant may have interrupted normal embryogenesis in the early developmental stages.