The Amniotic Band Syndrome in the Rat Is Associated with the Activation of Transforming Growth Factor-β

Romero‐Valdovinos, Mirza; Galván-Montaño, Alfonso; Olivo-Dı́az, Angélica; Maravilla, Pablo; Bobadilla, Norma A.; Vadillo-Ortega, Felipe; Flisser, Ana

doi:10.1016/j.ajpath.2015.04.006

Cited by 5 publications

(4 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The role of the TGFβ pathway in the palate formation has been studied from mice models (Iwata et al, 2012). Interestingly, the activation of the TGFβ pathway is associated, in rat, with amniotic band formation, and results in a phenotype resembling the human amniotic band syndrome (ABS) (Romero‐Valdovinos et al, 2015). As a matter of fact, many patients reported in the literature with ABS harbor features of the FND spectrum, such as hypertelorism and nasal deformity—present in 86% of individuals from a cohort of patients with ABS and craniofacial involvement.…”

Section: Discussionmentioning

confidence: 99%

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

Lehalle

Bruel

Vitobello

et al. 2022

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well‐known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Based on strict clinical classification criteria, we could confirm only nine (33%) typical and two (7%) atypical PS individuals. The remaining ones were either OAFNS (11/27—41%) or presenting with an overlapping syndrome (5/27—19%). Because of the phenotypic overlap between these entities, OAFNS, ECCL, and SC can be either considered as differential diagnosis of PS or part of the same spectrum. Exome and/or genome sequencing from blood DNA in 12 patients and from affected tissue in one patient failed to identify any replication in candidate genes. Taken together, our data suggest that conventional approaches routinely utilized for the identification of molecular etiologies responsible for Mendelian disorders are inconclusive. Future studies on affected tissues and multiomics studies will thus be required in order to address either the contribution of mosaic or noncoding variation in these diseases.

show abstract

Section: Discussionmentioning

confidence: 99%

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

Lehalle

Bruel

Vitobello

et al. 2022

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…One of ABS etiologies defined by Romero et al is early rupture of amniotic and chorionic membranes and the epithelial-mesenchymal transition was a factor that could contribute to ABS pathogenesis [6], second theory is by Van Allen et al that internal or external events caused vascular accidents or had a negative impact on blood flow to the embryo because they interrupted the morphogenesis or destructed structures, whereas amniotic bands were a form of superficial necrosis [7] There is typically an asymmetric distribution of these defects; the most common manifestations involve limb deformities. Constriction ring defects of the extremities typically are present.…”

Section: Discussionmentioning

confidence: 99%

Amniotic Band Syndrome with Cranial Anomalies; Review of Two Cases

Alev¹,

Zuhat²,

Fitnat³

et al. 2022

IJCCR

View full text Add to dashboard Cite

Amniotic band sequence (ABS) results from in utero entrapment of fetal parts by fibrous bands, which leads to malformations that can affect multiple organ systems including the limbs, craniofacial regions and trunk, and central nervous system. These bands can adhere to anatomical structures of the fetus and cause vascular disruption which results in the amputation of the involved anatomic part. We present two cases of ABS both of which presented with craniofacial defects associated with ABS; one with apical encephalocel and extremity defects, the other one with schizencephaly with extremity defects and cleft lip & palate. ABS may represent itself not only with extremity defects but atypical forms in cranial vault. ABS must be kept in mind and sonography must be detailed when rare deformities like schizencephaly and extremity defects identified.

show abstract

“…Encontraron que los niveles de ARNm de TGF-β1 aumentaron en el feto y la membrana amniótica a las 6 horas, mientras que la actina de músculo liso α, Smad3 fosforilada y colágeno tipo I aumentaron a las 48 horas, sugiriendo que se induce una respuesta fibrótica después de la punción del saco amniótico. Además, los fetos tenían hemorragias, sindactilia y amputación de extremidades, similar al SBA humano (7) .…”

Section: Incidenciaunclassified

Cirugía fetal en bandas amnióticas

Primera¹,

Guevara

Jiménez³

et al. 2018

Rev peru ginecol obstet.

View full text Add to dashboard Cite

El síndrome de bandas amnióticas (SBA) se caracteriza por un acúmulo de bandas o cuerdas de tejido fibroso que se adhieren al feto y pueden producir compresión en diferentes partes del mismo. La gran mayoría de los casos presentan múltiples anomalías congénitas incompatibles con la vida. En un pequeño grupo de fetos se evidencian constricciones aisladas de la extremidad, las cuales pueden causar disfunción severa de la extremidad o amputación del miembro si no son tratadas mientras el feto está todavía en el útero. Esta rara condición ocurre en aproximadamente 1:1 200 a 1:15 000 nacidos vivos. La causa exacta de SBA permanece incierta; sin embargo, se plantean teorías de origen intrínseco, extrínseco y iatrogénico. La evolución de la extremidad afectada por SBA se caracteriza por la progresión de edema distal debido a obstrucción venosa, con amputación intrauterina del miembro secundaria a insuficiencia vascular. La liberación fetoscópica de las bandas amnióticas a través de técnicas de cirugía mínimamente invasivas, puede permitir la preservación de la vida, así como la función de los miembros en los casos de fetos con diagnóstico de SBA. Al revisar la literatura se concluye que la liberación fetoscópica de bandas amnióticas permite la preservación de la función de la extremidad en 50% de los casos.

show abstract

The Amniotic Band Syndrome in the Rat Is Associated with the Activation of Transforming Growth Factor-β

Cited by 5 publications

References 25 publications

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

Amniotic Band Syndrome with Cranial Anomalies; Review of Two Cases

Cirugía fetal en bandas amnióticas

Contact Info

Product

Resources

About