Fetal disruptions: Assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community‐based stillbirth assessment program

Luebke, Heidi J.; Reiser, Catherine A.; Pauli, Richard M.

doi:10.1002/ajmg.1320360113

Cited by 55 publications

(33 citation statements)

References 25 publications

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“…The two cases of limb body wall complex with absence of the external genitalia presented by Litwin et al [1988] are similar to those discussed here. Studies by Herva and Karkinen-Jaaskelainen [1984], Hartwig et al [1991], Luebke et al [1990], Moerman et al [1992], and Pagon et al…”

Section: Discussionmentioning

confidence: 95%

Umbilical cord agenesis in limb body wall defect

1997

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The term "Limb Body Wall Defect" (LBWD) refers to a variable group of congenital defects having in common abdomino- or thoraco-schisis and limb deficiency. Three general pathogenic mechanisms have been proposed for this disorder: amnion rupture, vascular disruption, and embryonic malformation. We hypothesize that there are subsets of "Limb Body Wall Defect," which have similar structural abnormalities and a common pathogenesis. We report on five cases of LBWD that were selected by using more restrictive criteria. An infant or fetus was included if it had abdominoschisis with a broad attachment of skin to amnion at the site of the abdominal wall defect, limb defects, and umbilical cord agenesis. Autopsy detected additional common structural defects. All had evisceration of the gastrointestinal structures into the extra-embryonic coelomic space with structural abnormalities of the intestines. All had scoliosis, thoracic deformities, pulmonary hypoplasia, and structural abnormalities of the cloaca and urogenital ridge. Four of five had meningomyelocele. Three had exstrophy of the cloaca. The four females all had ovarian agenesis and incomplete Mullerian fusion. None had normal development of the external genitalia. We propose that the pathogenesis was a primary malformation of body wall closure, with abnormal fusion of the amnion, which had occurred in the first month of development.

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Section: Discussionmentioning

confidence: 95%

Umbilical cord agenesis in limb body wall defect

1997

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“…Other authors have disagreed [e.g., Pagon et al, 1979;Russo and Vecchione, 1996;Craven et al, 1997;Luehr et al, 2002]. Similarly the idea that a singular pathogenetic mechanism can explain the spectrum of associated findings has been questioned [e.g., Luebke et al, 1990;Moerman et al, 1992], and furthermore there has been concern that such lumping may impede discovery of the underlying pathogenesis [Russo et al, 1993;Craven et al, 1997]. Even the definition of LBWD that allows inclusion of cases that have craniofacial and limb defects but lack an abdominal wall defect, or have a body wall and craniofacial malformation but no limb anomaly is debated [Martinez-Frias, 1997].…”

Section: Discussionmentioning

confidence: 99%

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Hunter

Seaver

Stevenson

2011

American J of Med Genetics Pt A

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Aside from gastroschisis and omphalocele, major defects of the ventral body (thoracoabdominal) wall are relatively uncommon and almost universally lethal. They are most often associated with other anomalies including those of the limbs that may range from amelia to mild positional deformations, unusual craniofacial malformations, and a variety of visceral abnormalities that include the heart, lungs, genitourinary system, and gut. This complex of ventral wall anomalies has been discussed under a broad and changing nomenclature that has included amniotic band disruption complex, amnion rupture sequence, limb-body wall defect (or complex), and simply body wall complex. Three major theories have been suggested to explain this complex: early amnion rupture (operating through uterine pressure and/or disruption by amniotic bands), vascular compromise (primarily hypoperfusion), and an early intrinsic defect of the developing embryo. We present four patients that illustrate the spectrum of ventral body wall defects, and from there critique the current hypotheses of pathogenesis. We conclude that this association of malformations originates as early as the embryonic disc stage, and that some of the observed associated anomalies are secondary complications of the primary disturbance in embryogenesis. We propose a new explanation for the atypical facial clefts and cranial malformations that are often observed.

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“…On the other hand, persistence of the extraembryonic coelom with subsequent rupture of the unsupported amnion and formation of constrictive bands may be the result of either amniotic adhesions occurring before amniochorionic fusion or of a body stalk disruption. As Luebke et al [1990] pointed out, there exists a multitude of alternative pathogenetic pathways leading to the various combinations of features of LBWC. Hartwig et al (1989) criticized the concept of a primary vascular disruption and proposed that LBWC results from a malfunction of the ectodermal placodes, suggesting a primary malformational process.…”

Section: Discussionmentioning

confidence: 99%

Constrictive amniotic bands, amniotic adhesions, and limb‐body wall complex: Discrete disruption sequences with pathogenetic overlap

et al. 1992

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In a fetopathologic evaluation of 18 cases with amniotic bands, we discerned 3 types of lesions: (1) constrictive tissue bands, (2) amniotic adhesions, and (3) more complex anomaly patterns, designated as limb-body wall complex (LBWC). Constrictive bands are caused by primary amnion rupture with subsequent entanglement of fetal parts (mostly limbs) by shriveled amniotic strands. Adhesive bands are the result of a broad fusion between disrupted fetal parts (mostly cephalic) and an intact amniotic membrane. Most of the craniofacial defects (encephaloceles and/or facial clefts) occurring in these fetuses are not caused by constrictive amniotic bands, but are the result of a vascular disruption sequence with or without cephalo-amniotic adhesion. Our observations confirm the fact that amnion rupture is not a conditio sine qua non for the development of LBWC. However, LBWC is often complicated by rupture of the unsupported amnion with ensuing formation of constrictive bands. We think that the concept that considers the 3 lesions in question as a single pathogenetic entity is erroneous and will inevitably lead to a never-ending debate between followers of the 2 prevailing theories. In our view, the theories of Streeter and Torpin are not mutually exclusive but rather apply to different types of lesions. The recognition of constrictive amniotic bands, amniotic adhesions, and LBWC as discrete but often combined disruption sequences with important pathogenetic overlap may resolve many dilemmas in interpretation when a fetus exhibits classical constrictive bands beside more severe defects.

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Fetal disruptions: Assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community‐based stillbirth assessment program

Cited by 55 publications

References 25 publications

Umbilical cord agenesis in limb body wall defect

Umbilical cord agenesis in limb body wall defect

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Constrictive amniotic bands, amniotic adhesions, and limb‐body wall complex: Discrete disruption sequences with pathogenetic overlap

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