Limb body wall malformation complex: An embryologic etiology?

Hartwig, Nico G.; Vermeij-Keers, Chr.; Vries, Helga E. de; Kagie, Marjolein J.; Kragt, Harry

doi:10.1016/0046-8177(89)90225-6

Cited by 130 publications

(133 citation statements)

References 14 publications

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“…They favored the hypothesis of Potter [1962] of a teratogenic insult prior to 3 weeks causing a primary defect in the development of the body stalk, amnion, and fetus as the cause of LBWD. Hartwig et al [1989] presented four cases of LBWD and concluded that the pattern of findings was not adequately explained by either the amniotic band or vascular hypoperfusion/hemorrhage theories (vide infra). Findings that we consider important (although not unique) include their Case 1 that had a lateral cleft lip and palate to which the meninges connected through a presumed defect in the base of the skull.…”

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

“…The likely origin of the skin tubes and the subject of HEDs have been recently reviewed [Hunter, 2011]. Hartwig et al [1989] modified Streeter's basic idea of a very early embryonic defect. Referring to the work by Smits-Van Prooje et al [1988] on the role of ectodermal placodes in the formation of the lateral wall mesoderm, these authors proposed that the limb and lateral body wall defects are due to defects in these placodes resulting in a deficiency of mesoderm and hence of the abdominal wall, which instead would be covered by thin amnion.…”

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

“…However, Hartwig et al [1989] rely on the experimental work of Smits-Van Prooje et al [1988] in which cells were labeled through ingestion of wheat-germ-agglutinin coated colloidal gold (WGAAu). When injected into the amniotic cavity, all cells lining that cavity were labeled, including amniocytes, the primitive streak, neural crest cells and what they call the ''ectodermal placodes.''…”

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

“…In mammals these include the adenohypothesis, olfactory, otic, lens, trigeminal, and epibranchial placodes. Thus the definition used by Hartwig et al [1989] rather turns the accepted definition on its head. Furthermore, it is now generally accepted that mesoderm and endoderm derive totally from inward migration of epiblasts along the primitive streak and are not induced by the ectoderm.…”

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

“…Without further discussion Hartwig et al [1989] attributed the craniofacial malformations to the equivalent placodes, which in this instance would derive from neural crest. The presence of membranes and bands were attributed to adhesion of the amnion to areas of cell death or abnormal histiogenesis.…”

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

See 4 more Smart Citations

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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Section: Review Of Prior Hypothesesmentioning

confidence: 99%

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

Section: Review Of Prior Hypothesesmentioning

confidence: 99%

See 3 more Smart Citations

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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Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency

Martínez‐Frías

1997

Am. J. Med. Genet.

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The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of body wall defects with evisceration of thoracic and/or abdominal organs, limb deficiency, and myelocystocele) should be based on the presence of two of three of the following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects. This approach implies that an infant with encephalocele with facial clefts and limb defects may be considered as having LBWC, which I do not think is correct. I present the results of a clinical and epidemiological analysis aimed at identifying if, from an epidemiological perspective, it is possible to identify an entity which is characterized by the presence of abdominal wall defects along with other malformations including or not limb deficiencies. The result of this analysis allows us to consider that this entity should be characterized by the presence of abdominal wall defects with a variable spectrum of anomalies (with or without limb deficiencies) and, consequently, be called body wall complex (BWC). BWC includes cases regardless of their clinical pattern and the possible etiology or pathogenetic mechanism. Thus, the BWC entity does not include amniotic band sequence without body wall defects, but does include amniotic band sequence with body wall defects.

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Anencephaly and faciocranioschisis: Evidence of complete failure of closure 3 of the neural tube in humans

Urioste

Rosa

1998

Am. J. Med. Genet.

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We report on a patient with median cleft of face and anencephaly as apparent consequence of delayed closure of the most rostral end of the neural tube. No other structural anomalies were found. To our knowledge, this child represents the first description of an isolated and complete failure of closure 3 of the neural tube and supports the hypothesis of a multi-site model of neural tube closure in humans.

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Limb body wall malformation complex: An embryologic etiology?

Cited by 130 publications

References 14 publications

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

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

Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency

Anencephaly and faciocranioschisis: Evidence of complete failure of closure 3 of the neural tube in humans

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