Fetal Amniotic Adhesions. Their Topographic Concordance with Regionally Clustered Malformations

Davies, Belinda R.; Giménez-Scherer, Juan Antonio; Hernández-Sierra, Juan Francisco

doi:10.1016/s0188-4409(00)00260-5

Cited by 13 publications

(17 citation statements)

References 19 publications

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“…First of all, there were considerably less malformations (4 versus 14= case) in the ABDC, in part due to their regional clustering [15]; whole body involvement is not the norm as it is in the ATs. …”

Section: Discussionmentioning

confidence: 93%

“…The small numbers of defects of internal organs in the ABDC (17%) usually consisted of aplasia and were unilateral; they involved kidneys, gonads, uterus, occasionally lungs and adrenals. Together with one missing umbilical artery, they were associated with abdomino-or thoracoabdominoschisis and thus exposed to external disruption [15]. Abdominoschisis itself and cleft lip=palate, being seldom in direct apposition to the amniotic bands, were probably secondary to tethering and immobilization preventing normal closure [15,24].…”

Section: Discussionmentioning

confidence: 99%

“…The 48 infants with ABDC all had amniotic bands or the placenta attached to fetal parts; they were those included in a previous article [15]. Most cases had autopsies; there were nine new cases and 39 from the literature 1965-1993 (references in 15).…”

Section: Methodsmentioning

confidence: 99%

“…This suggests that vascular disruption was unlikely to be the initial factor in the formation of these anomalies [15]. The malformations and the adhesions could involve cranial, caudal, or mixed areas, all frequently with abdominoschisis (gastroschisis).…”

Section: Introductionmentioning

confidence: 99%

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Comparison of the Amniotic Band Disruption Complex With Acardiac Twins Does Not Support Its Vascular Origin

Davies

Giménez-Scherer

2007

Fetal and Pediatric Pathology

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The amniotic band disruption complex (ABDC) has been attributed to vascular disruption by some authors, not by others. Acardiac twins (ATs), however, have been generally accepted as a prime example of vascular disruption. In this study a comparison was made of these two entities to determine if they were similar or not, and thus we attempted to resolve the controversy of the mechanisms in the ABDC. A female tendency (2:1) was found in the ABDC in contrast to the "normal" sex distribution (0.88:1) in the ATs (p < 0.001). Most types of malformations (66%) were mutually exclusive, notably those of the cranium/brain, abdominal wall, and most internal organs; 83% were more significantly related to one or other of the entities. The ABDC malformations tended to occur unilaterally, but in the ATs they occurred bilaterally (p < 0.0001); the former tended to involve external organs and the latter internal organs (p < 0.0001). With so many differences, the two entities are unlikely due to the same mechanism: the ABDC is more likely to be due to external disruption.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Comparison of the Amniotic Band Disruption Complex With Acardiac Twins Does Not Support Its Vascular Origin

Davies

Giménez-Scherer

2007

Fetal and Pediatric Pathology

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“…It has explained *Corresponding author, e-mail: hecsanpay@msn.com Pediatric and Developmental Pathology 14, 206-213, 2011 DOI: 10.2350/10-02-0797-OA.1 ª 2011 Society for Pediatric Pathology the defects in acardiac twins (ATs) [2] and certain malformations in other situations. The disruptive effect of contiguous amniotic bands on the embryo in the amniotic band disruption complex (ABDC) is another probable mechanism [3]. Neural crest disruption has been proposed [4] as a mechanism in human maldevelopment, following the experimental production of cardiac conotruncal defects by ablation of the cephalic neural crest in the chick embryo.…”

Section: Introductionmentioning

confidence: 99%

Two Major Patterns of Nongenetic Malformations Are Found at Autopsy

Davies

Giménez-Scherer

2011

Pediatr Dev Pathol

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Patterns of malformations seen in autopsies may contribute to the understanding of their pathogenetic mechanisms. Two entities, acardiac twins (ATs) and amniotic band disruption complex (ABDC), have distinct patterns, indicating different mechanisms, namely vascular perfusion deficit and external disruption. With ATs and ABDC as model groups, this study was undertaken to see if other dysmorphic infants with the characteristic defects of these models formed distinct and numerically important groups. A total of 192 autopsies with nongenetic malformations was divided into groups including (1) those with defects found in the ATs but not in the ABDC, (2) those with defects found only in the ABDC, and (3) those with a mixture of exclusive defects from each model group. The cases followed the characteristic defects of ATs or ABDC in 20% (group 1) and 28% (group 2), respectively, forming 2 large and distinct groups; only 4% had mixed malformations (group 3). Group 1 had different characteristics from group 2 as a result of the frequent multiple malformations, often with congenital heart defects (CHDs), internal and inferior malformations. These cases were probably related to a vascular perfusion deficit. Group 2 had a majority of females and single, external, and superior defects, but it lacked CHDs and inferior malformations. These cases were likely due to external disruption. Two large and distinct groups of autopsies with nongenetic malformations were thus identified, and their mechanisms are proposed to be similar to those of the model groups.

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Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

Isidor

Baujat

Caignec

et al. 2009

American J of Med Genetics Pt A

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Congenital skin pedicles are very rare and usually described in association with multiple congenital anomalies. Here, we report on six patients with congenital pedicle skin hamartomatous lesions. Two patients showed a single skin pedicle lesion, one of whom was also shown to have 22q11.2 microdeletion syndrome, and four patients also had severe limb anomalies for which they were originally diagnosed with amniotic band sequence (ABS). We propose that all these infants instead show various forms of the phenotype resembling disorganization in the mouse. This article supports previous reports suggesting that "Disorganization-like" mutations may cause cases with apparent ABS. Owing to these reports, we propose the hypothesis that hamartomatous skin pedicles and "ABS plus" are different phenotypes of the human disorder resembling disorganization.

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Fetal Amniotic Adhesions. Their Topographic Concordance with Regionally Clustered Malformations

Cited by 13 publications

References 19 publications

Comparison of the Amniotic Band Disruption Complex With Acardiac Twins Does Not Support Its Vascular Origin

Comparison of the Amniotic Band Disruption Complex With Acardiac Twins Does Not Support Its Vascular Origin

Two Major Patterns of Nongenetic Malformations Are Found at Autopsy

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

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