Limb body wall complex and amniotic band sequence in sibs

Levy, Ronaldo; Lacombe, Didier; Rougier, Y.; Camus, E.

doi:10.1002/ajmg.a.32018

Cited by 25 publications

(20 citation statements)

References 19 publications

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“…33,39 Hartwig et al 37 also suggested the possibility of familial recurrence, which was considered in other case reports. 6 reported an association between fetal amniotic adhesions and multiple malformations, which predominately occurred in the same area and on the same side, thus supporting the theory of amniotic adhesions as the initial factor. Romero et al 48 maintained that ABS was generated by the early rupture of amniotic and chorionic membranes and also proposed that the epithelial-mesenchymal transition was a factor that could contribute to ABS pathogenesis.…”

Section: Theory Of Embryonic (Endogenous) Dysplasia and Derived Theoriessupporting

confidence: 59%

“…5,6 Anomalies are limited to external structures with or without body wall disruption or internal malformations that vary in severity and location. [7][8][9] Some authors consider ABS separately from the limb-body wall complex (LBWC), body wall defects (BWD) or the body wall complex (BWC), [10][11][12] whereas others believe these are all part of the same disease.…”

Section: Introductionmentioning

confidence: 99%

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An update on amniotic bands sequence

López-Muñoz

Becerra-Solano

2018

Arch Argent Pediatr

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Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000 births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has individually been able to support each and every defect observed, so it has been considered to be a multifactorial condition. The (pre-and post-natal) identification of anomalies suggestive of amniotic band sequence is useful for the diagnostic approach and implementation of timely therapeutic interventions favoring the release of the amniotic bands using fetoscopy with recovery of the involved distal limb perfusion, or else the possibility of performing a post-natal surgical repair. It is also helpful to provide genetic counseling. This article offers an update on the epidemiological aspects, etiological theories, risk factors, clinical characteristics, diagnosis (including antenatal diagnosis), genetic counseling, therapeutic approach, and prognosis of amniotic bands sequence.

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Section: Theory Of Embryonic (Endogenous) Dysplasia and Derived Theoriessupporting

confidence: 59%

Section: Introductionmentioning

confidence: 99%

An update on amniotic bands sequence

López-Muñoz

Becerra-Solano

2018

Arch Argent Pediatr

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“…Les malformations qui intéressent principalement les extrémités mais aussi le crâne, la face et l'axe thoraco-abdominal peuvent se rencontrer sous deux formes: la maladie des brides amniotiques (MBA) et le syndrome Limb Body Wall Complex (LBWC) [1]. La pathogénie du SBA n'est toujours pas clairement établie mais deux théories sont proposées pour l'expliquer: d'une part, la théorie exogène par rupture de l'amnios conduisant à des bandes fibreuses qui vont stranguler le corps du fœtus et, d'autre part, la théorie endogène qui privilégie l'atteinte vasculaire [2, 3].…”

Section: Introductionunclassified

Le syndrome des brides amniotiques et ses difficultés diagnostiques et de prise en charge au Burkina Faso

Nagalo¹,

Badiel²,

Kouéta³

et al. 2015

Pan Afr Med J

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Le syndrome des brides amniotiques est une embryo-foetopathie rare, d’étiopathogénie encore inconnue, caractérisé par des malformations crânio-faciales, thoraco-abdominales, des membres et des extrémités. Afin de discuter des difficultés diagnostiques et thérapeutiques du syndrome des brides amniotiques, nous rapportons cinq cas de ce syndrome. Ces cas représentaient autant de phénotypes de la maladie mais avec quelques singularités. Les deux premiers étaient des cas de maladie des brides amniotiques caractérisés l'un par une amputation d'un membre inférieur associée à des lésions cutanées et à une surdité, l'autre par des strictions avec amputation des doigts associées à une fente labio-palatine, une cataracte congénitale et un strabisme. Les trois autres cas correspondaient à des formes létales du Limb Body Wall Complex dont deux avec attache placento-crânienne et un avec attache placento-abdominale. Le renforcement du diagnostic anténatal, l'instauration du conseil génétique et la mise en place d'un registre national des malformations devraient permettre d'améliorer la prise en charge des cas du syndrome des brides amniotiques.

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“…Si las bandas amnióticas se producen antes del día 45 posterior a la fecundación, pueden interferir con el desarrollo de estructuras y órganos en formación, interrumpiendo la embriogénesis, afectando los plegamientos craneal caudal y transversal, produciéndose defectos en la pared toraco-abdominal, en el cierre del tubo neural, en la formación de la cara con la fusión de los 5 primordios faciales y el crecimiento, y segmentación de las yemas de las extremidades (24,25). Esta asociación se conoce en la literatura como complejo cuerpo-extremidad, síndrome del tallo corporal o, en inglés, limb body wall complex (LBWC) (17,26,27).…”

Section: Resultsunclassified

“…El SBA consiste en un conjunto de anomalías congénitas secundarias al efecto destructivo de una banda de tejido amniótico que se adhiere al embrión o feto en desarrollo, que puede producir anillos de constricción o amputaciones usualmente distales en extremidades (13)(14)(15)(16). Con menor frecuencia se ha asociado a defectos de la pared toraco-abdominal, exencefalia/acranea, con o sin hendidura facial, y anormalidades de las extremidades; esta asociación se conoce como complejo cuerpo-extremidad, síndrome del tallo corporal o LBWC (del inglés limb body wall complex) (17)(18)(19).…”

Section: Introductionunclassified

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura

Saldarriaga¹,

Ayala-Zapata²,

Ramírez-Cheyne³

et al. 2014

Rev. Colomb. Obstet. Ginecol.

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RepoRte de caso Rev Colomb Obstet Ginecol 2014;65:243-249 RESUMENObjetivo: reportar un caso de pentalogía de Cantrell asociado a acranea, hendidura facial medial y reducción de las extremidades derechas originado por bandas amnióticas. Realizar una revisión de la literatura sobre la patogénesis de las bandas amnió-ticas y los hallazgos en el caso reportado. Materiales y métodos: se presenta el caso de un recién nacido muerto, con malformaciones congé-nitas antes mencionadas, hijo de madre primigestante de 15 años con 34 semanas de gestación, que consultó al Hospital Universitario del Valle (HUV), hospital de nivel III y IV de referencia en obstetricia, de la red pública del suroccidente colombiano. Como fuente de información se utilizó la historia clínica, fotografías del recién nacido y los Rayos X. Se realizó una búsqueda de literatura con las palabras clave "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" en las bases de datos Medline vía PubMed en inglés y español, sin límite de tiempo; se buscaron reportes de caso, revisiones de tema y series de casos. Resultados: se encontraron treinta artículos, se analizaron todas las referencias y se halló que catorce corresponden a reportes de caso, ocho a revisiones de tema y ocho a series de casos. Conclusiones: se reporta un caso de pentalogía de Cantrell, posiblemente por bandas amnióticas originadas en el desarrollo embrionario. El caso se clasificó como complejo cuerpo-extremidad (LBWC), secundario a bandas amnióticas. Palabras clave: pentalogía de Cantrell, síndrome de bandas amnióticas, complejo cuerpo-extremidad. ABSTRACTObjective: To report a Pentalogy of Cantrell case associated with acrania, medial facial cleft and reduction of the right limbs as a result of amniotic bands; and to conduct a review of the literature on the pathogenesis of amniotic bands and the findings of the reported case. Materials and methods: Case report of a demised neonate with the above mentionated DOI: http://dx.doi.org/10.18597/rcog.51Revista Colombiana de Obstetricia y Ginecología Vol. 65 No. 3 • 2014 244 congenital malformations born to a 15 year-old primigravida in her 34 weeks of gestation who came to Hospital Universitario del Valle (HUV), a level III and IV referral hospital for obstetrics belonging to the public network in south-western Colombia. The clinical record, photographs of the neonate and X-Ray images were used as the sources of information. A search in the literature was conducted using the terms "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" through PubMed in the Medline databases in English and Spanish, with no time limitation; the search included case reports, topic reviews and case series. Results: Overall, 30 articles were found and all the references were analysed; 14 were case reports, 8 were topic reviews and 8 were case series. Conclusions: Report of a Pentalogy of Cantrell case, probably resulting from amniotic bands arising during embryo...

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Limb body wall complex and amniotic band sequence in sibs

Cited by 25 publications

References 19 publications

An update on amniotic bands sequence

An update on amniotic bands sequence

Le syndrome des brides amniotiques et ses difficultés diagnostiques et de prise en charge au Burkina Faso

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura

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