Limb‐body wall complex: II. Limb and spine defects

Abstract

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.

Síndrome de bridas amnióticas, a propósito de 3 casos clínicos

“…El diagnóstico se puede confirmar por la ruptura crónica del corion en cortes histológicos placentarios. El diagnóstico diferencial debe hacerse con respecto a cicatrices o sinequias intrauterinas secundarias a intervenciones en la cavidad uterina, el síndrome del cordón umbilical corto, y tabique mulleriano, entre otros 18,19 . La secuencia de ADAM (deformidad amniótica, adhesión y mutilación) es una condición heterogénea, con un amplio espectro de anomalías, en la cual están igualmente implicadas causas intrínsecas como defectos germinales, disrupción vascular y alteraciones en la morfogénesis, alternado con causas extrínse-cas como la ruptura de bandas amnióticas.…”

Limb Body Wall Complex in Two Heterozygotic Twins: A Case Report

“…This severe and rare malformation complex has a prevalence ranging from 1/7.000 to 1/42.000 (2,4,5). The pathogenesis of this malformation is not clear and it has been a matter of debate in the literature (2,3,6,7,8). We present a case report of an infant with Limb Body Wall Complex, borned by diamniotic twin pregnancy.…”

“…(1) It is also associated with defects of the interiors organs, such as diaphragmatic atresia (74%), renal agenesis, intestinal atresia, gallbladder atresia, heart defects, lung hypoplasia, hydrocephalus and limb defects and genitalia anomalies (2,3). This severe and rare malformation complex has a prevalence ranging from 1/7.000 to 1/42.000 (2,4,5).…”

Pentalogía De Cantrell en Un Recién Nacido Expuesto en Útero a Misoprostol

“…La prevalencia de la PC ha sido estimada en 1 en 65.000 a 1 en 200.000 recién nacidos (10,11). El caso presentado corresponde a un paciente con diagnóstico de PC clase 3, con defecto de pared abdominal, defecto esternal inferior y hernia diafragmática, por lo que fue clasificado como de expresión incompleta.…”