Um grupo de malformações de nascença que acontecem por acaso, associadas às bandas amnióticas. Elas afetam os membros (braços e pernas), a cabeça, o rosto, a coluna e o tronco, com uma apresentação clínica muito variada. Os casos podem ir desde um simples aperto em um dedo (da mão ou do pé) – que pode levar à amputação – até malformações complexas na cabeça, no rosto, no cérebro, na medula espinhal e nos órgãos internos.
Introdução
O que você precisa saber de cara
Um grupo de malformações de nascença que acontecem por acaso, associadas às bandas amnióticas. Elas afetam os membros (braços e pernas), a cabeça, o rosto, a coluna e o tronco, com uma apresentação clínica muito variada. Os casos podem ir desde um simples aperto em um dedo (da mão ou do pé) – que pode levar à amputação – até malformações complexas na cabeça, no rosto, no cérebro, na medula espinhal e nos órgãos internos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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Clinical Presentation and Diagnostic Challenges of Congenital Thoracoabdominal Wall Defects in Dogs: Insights from a Case Series and Literature Synthesis.
Congenital thoracoabdominal wall defects in dogs are uncommon and challenging to classify due to their overlapping anatomical and developmental features. This study analyzes three original canine cases alongside 17 published cases to clarify the relationships among Cantrell syndrome (CS), amniotic band syndrome (ABS), and body stalk anomaly (BSA). All of the original cases exhibited thoracoabdominal involvement with variations in umbilical cord morphology and associated anomalies. A comparative analysis revealed that these conditions form a syndromic continuum rather than distinct entities, influenced by the timing and mechanism of embryonic disruption. Early developmental insults were associated with multisystem malformations resembling CS or BSA, whereas later vascular disruptions produced more localized defects, such as gastroschisis. Umbilical cord morphology emerged as a key diagnostic discriminator across cases. Based on these findings, we developed an anatomically driven diagnostic decision tree to support clinical evaluation when information is incomplete. This study emphasizes the importance of integrating embryologic context with anatomical assessment and identifies significant gaps in molecular and genetic data. A developmental continuum model offers a more flexible, clinically meaningful framework for diagnosing congenital body wall defects in dogs.
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📚 EuropePMC253 artigos no totalmostrando 193
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Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine[Amniotic band syndrome: management of skeletal limb abnormalities. A case report].
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BMC pregnancy and childbirthExpanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
American journal of medical genetics. Part ALimb body wall complex - the history of the entity and presentation of our series of cases.
Polish journal of pathology : official journal of the Polish Society of PathologistsAmniotic Band Syndrome Associated with Exencephaly: A Case Report and Literature Review.
Journal of pediatric neurosciencesBody wall defects and amniotic band syndrome in pig (Sus scrofa domesticus).
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Medicina (Kaunas, Lithuania)Case series: Amniotic band sequence with craniofacial abnormalities.
Birth defects researchAdvances in Fetal Surgery: Current and Future Relevance in Plastic Surgery.
Seminars in plastic surgery[The amniotic band syndrome : a rare and severe malformative pathology].
Revue medicale de LiegeAmniotic band syndrome with Tessier number 4 and 7 clefts: a case report.
The British journal of oral & maxillofacial surgerySuccessful release of pseudoamniotic bands after laser photocoagulation for twin-twin transfusion syndrome: utility of partial carbon dioxide insufflation of uterus.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology[Amniotic band syndrome: prenatal diagnosis and management challenges (about 2 cases of lethal malformations)].
The Pan African medical journalPseudo ainhum and facial malformation secondary to Streeter's dysplasia.
Journal of the European Academy of Dermatology and Venereology : JEADVEffects of a surfactant-based gel on acute and chronic paediatric wounds: a panel discussion and case series.
Journal of wound careOsteomyelitis in limb amputated by amniotic band sequence.
BMJ case reportsAmniotic bands and associated polymicrogyria: In favor of a unique ischemic cause.
European journal of obstetrics, gynecology, and reproductive biologyLow-cost sensor-integrated 3D-printed personalized prosthetic hands for children with amniotic band syndrome: A case study in sensing pressure distribution on an anatomical human-machine interface (AHMI) using 3D-printed conformal electrode arrays.
PloS oneSymbrachydactyly: Finger nubbins are not always amniotic band disruption sequence.
JAAPA : official journal of the American Academy of Physician AssistantsFetoscopic Release of Amniotic Bands Causing Limb Constriction: Case Series and Review of the Literature.
Fetal diagnosis and therapySpontaneous Septostomy in a Twin Pregnancy Causing Fatal Amniotic Band Syndrome.
Case reports in pediatricsUnusual facio-upper arm band of a fetus mimicking amniotic band syndrome.
The journal of obstetrics and gynaecology researchThe Work of Becerra-Solano et al. (2008) on Amniotic Disruption-Adhesion-Mutilation (ADAM or DAB) Sequence Deserves Comment.
Fetal and pediatric pathologyLimb body wall complex: Its delineation and relationship with amniotic bands using clustering methods.
Birth defects researchCore outcome set for research studies evaluating treatments for twin-twin transfusion syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyFetal Surgery and Delayed Cord Clamping: Neonatal Implications.
Critical care nursing clinics of North AmericaDetection of hypomethylation of H19 in a pregnancy with limb-body wall complex.
Taiwanese journal of obstetrics & gynecologyConstriction band syndrome in a healthy full-term newborn.
Canadian family physician Medecin de famille canadienDigital-Facial Translocation in Amniotic Band Sequence: Evidence of the Intrinsic Theory.
The Journal of craniofacial surgeryChromosome 2 Microdeletion Syndrome in a Newborn with Amniotic Band Sequence.
South Dakota medicine : the journal of the South Dakota State Medical AssociationThe Impact of Microsurgery on Congenital Hand Anomalies Associated with Amniotic Band Syndrome.
Plastic and reconstructive surgery. Global openAn update on amniotic bands sequence.
Archivos argentinos de pediatriaAmniotic Band Syndrome: A Review of 2 Cases.
Ophthalmic plastic and reconstructive surgeryAmniotic Band Syndrome: A Multidisciplinary Care Approach to the Treatment of a Rare Case.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIntrauterine Linear Echogenicities in the Gravid Uterus: What Radiologists Should Know.
Radiographics : a review publication of the Radiological Society of North America, IncMalformations attributed to the process of vascular disruption.
Birth defects researchAsymptomatic bands on an infant's extremity.
Pediatric dermatologySevere Craniofacial Involvement due to Amniotic Band Sequence.
Fetal and pediatric pathologyAmniotic Constriction Bands: Secondary Deformities and Their Treatments.
Hand (New York, N.Y.)Tessier number 4 bilateral craniofacial cleft associated with amniotic band syndrome: 22 years of follow-up.
Journal of stomatology, oral and maxillofacial surgeryMinimally Invasive Fetal Surgery.
Clinics in perinatologyUmbilical Cord Strangulation by Amniotic Bands.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCSevere Intrauterine Amputations in One Dichorionic Twin With Pentalogy of Cantrell: Further Evidence and Consideration for Mechanical Teratogenesis.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyAmniotic band syndrome with pseudoarthrosis of tibia and fibula: A case report.
Irish medical journalPseudoamniotic Band Syndrome After Fetoscopic Laser Ablation of Placental Anastomoses for Twin-Twin Transfusion Syndrome: Two Case Reports and Systematic Review.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineA rare case of cleft number nine associated with atypical cleft number two.
Indian journal of ophthalmologyLow-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis).
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGPseudoamniotic Band Syndrome Post Fetal Thoracoamniotic Shunting for Bilateral Hydrothorax.
Fetal and pediatric pathologySalvage of Necrotic-Appearing Limb after In Utero Endoscopic Lysis of Constriction Bands.
AJP reportsCase review and outcomes of prenatally diagnosed amniotic sheets.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsCongenital malformations and medical conditions associated with orofacial clefts in children in Burkina Faso.
BMC pediatricsManagement of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case.
Case reports in dentistryA Rare Case of Two Accessory Maxillae with Bilateral Tessier 7 clefts.
The Chinese journal of dental researchAplasia cutis congenita and amniotic band syndrome: an uncommon association.
BMJ case reportsAmniotic band syndrome in dichorionic diamniotic twin pregnancy.
HippokratiaLipoinjection and Multiple Internal Cuts for Congenital Constriction Bands: A New Treatment Approach.
Aesthetic plastic surgeryAmniotic Band Syndrome, Perinatal Hospice, and Palliative Care versus Active Management.
Case reports in obstetrics and gynecologyCongenital adhesion band causing small bowel obstruction: What's the difference in various age groups, pediatric and adult patients?
BMC surgeryUnusual Case of Amniotic Band Sequence.
International journal of surgical pathologyPrenatal diagnosis of congenital upper limb differences: a current concept review.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansNeonatal leg fracture and constriction ring syndrome: A case report and literature review.
Orthopaedics & traumatology, surgery & research : OTSRAssociations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.
American journal of obstetrics and gynecologyChorioamniotic Membrane Separation Found on Routine Testing in an Otherwise Asymptomatic Woman With Late Preterm Twin Gestation.
Military medicine[Congenital malformations of the forefoot].
Annales de chirurgie plastique et esthetiqueThe prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980-2012 with a review of risk factors and familial cases.
American journal of medical genetics. Part ARole of Ultrasound in Body Stalk Anomaly and Amniotic Band Syndrome.
International journal of reproductive medicineSingle stage surgical treatment of amniotic band syndrome – Case report.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Prenatal sonographic features and outcomes of radial ray defects - a 14 case series with a literature review.
- Clinical Presentation and Diagnostic Challenges of Congenital Thoracoabdominal Wall Defects in Dogs: Insights from a Case Series and Literature Synthesis.
- Twin-twin transfusion syndrome in a dichorionic-diamniotic gestation with post-laser amniotic band sequence: A case report.
- Amniotic Band Syndrome Presenting with Pseudoarthrosis of the Tibia: A Case Report.
- Prenatal ultrasound diagnoses fetal amniotic band syndrome causing fetal gastroschisis: A case report.
- Chorioretinitis Scarring in a Neonate Secondary to Congenital Herpes Simplex Type 2.
- Dynamic ultrasound and three-dimensional reconstruction in the prenatal diagnosis of amniotic band syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:295000(Orphanet)
- OMIM OMIM:217100(OMIM)
- MONDO:0015167(MONDO)
- GARD:429(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q473753(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
