Limb body wall complex – the history of the entity and presentation of our series of cases

Abstract

We present an analysis of two first historically documented limb body wall complex (LBWC) cases and our own contemporary perinatal autopsy series of this rare complex. So far it was supposed that the first case of this complex was reported in 1685 by Paul Portal. Studying the Joachim Oelhaf's autopsy report from 1613 with attached engraving showing the neonate with multiple birth defects led our research team to a conclusion that it was genuinely the first description of LBWC in the medical literature so far. We compared the Oelhaf's case from 1613 and the Portal's autopsy report from 1685 with our series of LBWC cases dissected in the Medical University of Gdansk between 1999 and 2011. Reviewing 1100 autopsy reports performed we encountered 9 cases of this unique complex. The analysis was supported by the literature review.

Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis

“…This work emerged from ongoing discussions over several years among the authors regarding the basis of malformations and disruptions in twins. These diverse disorders were relatively easily separated into two distinct groups, the first with primary malformations of presumed early embryonic origin, and the second with structural defects variably defined as malformations or disruptions, attributed to prenatal defects in vascular perfusion or hemorrhage (Cantrell, Haller, & Ravitch, 1958; Duncan, Shapiro, Stangel, Klein, & Addonizio, 1979; Gulczyński, Świątkowska‐Freund, Paluchowski, Hermann‐Okoniewska, & Iżycka‐Świeszewska, 2019; Quan & Smith, 1973; Rollnick, Kaye, Nagatoshi, Hauck, & Martin, 1987; Steiner et al, 2018; Van Allen, Curry, & Gallagher, 1987). Here we consider the first group of recurrent constellations of embryonic malformations (RCEM), which includes limb–body wall complex (LBWC), Mullerian duct aplasia‐renal anomalies‐cervicothoracic somite dysplasia (MURCS), oculoauriculovertebral spectrum (OAVS), omphalocele‐exstrophy‐imperforate anus‐spinal defects (OEIS) complex, pentalogy of Cantrell (POC), vertebral‐anal‐cardiac‐tracheoesophageal fistula‐renal‐limb (VATER/VACTERL, hereafter VACTERL) association (Cantrell et al, 1958; Duncan et al, 1979; Keppler‐Noreuil et al, 2007; Quan & Smith, 1973; Rollnick et al, 1987; Van Allen et al, 1987), and possibly others.…”

Limb–body wall complex: Literature review and case report

“…Moreover, no membrane was found to be covering the abdominal viscera. Lastly, the presence of limb anomalies is not frequent, as it is in LBWC (Aguirre-Pascual et al, 2014;Bermejo-S anchez et al, 2011;Bohîlt ¸ea et al, 2017;Gulczy nski et al, 2019).…”

Diagnóstico prenatal del complejo onfalocele – extrofia cloacal – ano imperforado y defecto de la columna vertebral (Complejo OEIS)

“…Los diagnósticos diferenciales de la combinación de los defectos de la pared abdominal y del tubo neural diagnosticados en el periodo prenatal, además del complejo OEIS, incluyen secuencia de extrofia cloacal, complejo extremidad-pared corporal y asociación de esquisis (15) . Aunque existe superposición clínica significativa entre todas estas condiciones, estas pueden perte-necer a un espectro de defectos de campo del desarrollo embriológico / fetal de etiología desconocida (16,17) .…”