Ectopia cordis thoracalis with craniofacial defects resulting from early amnion rupture.
A 33-week-gestation fetus was evaluated as having ectopia cordis thoracalis, midline sternal cleft, frontonasal dysgenesis, a midfacial cleft, and amniotic bands. Fibrous bands were attached to the apex of the heart, face, and the brain. There were no associated limb defects or scoliosis. The findings in this fetus and those in the literature suggest that acute amnion rupture in the third week of gestation may be the cause of these defects. Mechanical teratogenesis by tissue bands adherent to the heart may lead to ectopia cordis. The changes seen in the thorax, face, and brain suggest pressure necrosis, incomplete morphogenesis, tearing and tethering by amnion, and compression as a cause for these defects. A spectrum of defects is found following amnion rupture with the abnormalities being dependent upon the timing of the event. Ectopia cordis with amniotic bands appears to have an etiology distinct from isolated ectopia cordis. This suggests several different etiologies for ectopia cordis.
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000473:pathology; D000328:Adult; D000650:Amnion; D005145:Face / Q000002:abnormalities*; D005260:Female; D005322:Premature Rupture of Fetal Membranes / Q000150:complications*; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*