Limb-body wall complex: II. Limb and spine defects.
Limb defects from 25 fetuses with limb-body wall (LBW) complex were evaluated to determine the mechanism of limb damage. The limb defects could be divided into 3 pathogenetic groups: (1) secondary to disruption of embryonic vessels and surrounding tissue (84%), (2) secondary to amniotic bands or adhesions (16%), and (3) deformation versus hemorrhage (44% with club feet), with some fetuses having more than one pathogenetic mechanism causing limb defects. The hypothesis that the majority of limb defects resulted from disruption of embryonic vessels was supported by the following findings: 96% of the LBW complex fetuses had limb defects; the lower limbs were at greater risk of damage than the upper limbs (28% rt arm, 52% lt arm, 60% rt leg, 72% lt leg); there was a distal to proximal progression of limb damage in 92% of the fetuses; statistical analysis of comparing the location of the most severe limb defect and the body wall defect did not find concordance between the side (p = 1.0) and the region (p = 0.18) of the body wall defect; and limb defects found in the human specimens were similar to those produced in experimental animals following disruption of embryonic vessels at a corresponding gestation. In the specimens with amniotic band related limb defects (16%), the most likely pathogenesis is mechanical rupture through the amnion in the presence of a persistent extraembryonic coelom or from adhesion of the amnion to necrotic embryonic tissue after the initial disruptive event. Club feet were present in 44% and may be due either to disruption of embryonic vessels or to deformation. Further studies are needed to resolve this question.
D000009:Abdominal Muscles / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000209:etiology*; D000652:Amniotic Band Syndrome / Q000150:complications; D005260:Female; D005532:Foot Deformities, Congenital / Q000209:etiology; D006228:Hand Deformities, Congenital / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D011247:Pregnancy; D013131:Spine / Q000002:abnormalities*