Km. Jasnosz et al., CONGENITAL COMPLETE ABSENCE (BILATERAL AGENESIS) OF THE DIAPHRAGM - ARARE VARIANT OF CONGENITAL DIAPHRAGMATIC-HERNIA, American journal of perinatology, 11(5), 1994, pp. 340-343
Although congenital diaphragmatic hernia is one of the most common con
genital anomalies, complete bilateral absence of the diaphragm is a ve
ry rare variant, with six cases reported in the literature. A 1040 g b
lack male infant was born at 27 weeks' gestation to a 28-year-old blac
k woman with a history of minimal prenatal care and cocaine abuse duri
ng pregnancy. Apgar scores were 2/1/1/0/1 at 1, 5, 10, 15, and 20 minu
tes, respectively and efforts to resuscitate him were unsuccessful. He
died at 21/2 hours of age. Autopsy showed complete absence of the dia
phragm, pulmonary hypoplasia, and an atrial septal defect of the heart
. Cytogenetic studies showed normal male karyotype. We suggest that de
creased or interrupted blood supply to the developing diaphragm of thi
s infant may have interrupted normal embryogenesis in the early develo
pmental stages.