Introdução
O que você precisa saber de cara
Uma onfalocele, também conhecida como exônfalos, é um defeito raro da parede abdominal. A partir da 6ª semana de desenvolvimento, o alongamento rápido do intestino e o aumento do tamanho do fígado reduzem o espaço intra-abdominal, o que empurra as alças intestinais para fora da cavidade abdominal. Por volta da 10ª semana, o intestino retorna à cavidade abdominal e o processo é concluído até a 12ª semana. A persistência do intestino ou a presença de outras vísceras abdominais no cordão umbilical resulta em uma onfalocele.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Giant omphalocele
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Publicações mais relevantes
Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.
To preliminarily describe the dynamic changes and clinical characteristics of serum C-reactive protein (CRP) in giant omphalocele (GO) neonates with delayed repair during the early postnatal period. A retrospective study included 15 neonates with GO who underwent delayed repair at our hospital. CRP was collected at 0, 5, 7, 10, 14, 21 days after birth and before discharge. Data on hospital stay duration, complications, and anti-infection treatment were recorded. Descriptive statistics were used to present the trend of CRP changes, and the relationship with clinical indicators was preliminarily analyzed. Among the 15 full-term neonates (average gestational age 38.5 weeks, birth weight 2,821 g), CRP reached a peak value on the 5th day after birth (median 87.1 mg/L), followed by a decreasing trend but remaining at a high level (78.0, 67.2, and 48.0 mg/L on the 7th, 10th, and 14th days, respectively). The peak CRP level was positively correlated with the hospital stay duration (R = 0.78, p = 0.001). 73.3% (11/15) of the GO neonates received empirical antibiotic treatment (average course of 11 days), while the pathogen positivity rate was only 20% (3/15), and all were cultured from the sac membrane secretions. Based on the duration of continuous CRP elevation as the classification criterion, it was found that neonates with a longer duration of elevated CRP had larger defects, longer hospital stays, and longer time to achieve full enteral nutrition. Neonates with GO undergoing delayed repair exhibit significant CRP elevation in the early postnatal period, but this rise correlates poorly with proven infection. Clinicians need to carefully interpret the changes in CRP and avoid excessive anti-infection treatment. This retrospective study provides preliminary data and hypothesis basis for subsequent large-sample studies.
Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.
The primary objectives were to know the prevalences of pulmonary hypoplasia (PH), persistent pulmonary hypertension of the newborn (PPHN), and mortality in newborn infants with giant omphalocele (GO). A secondary aim was to assess the prevalence of syndromes and other congenital anomalies (SCA) associated with GO.A systematic review according to PRISMA guidelines using MEDLINE/PubMed, Google Scholar, and Scopus platforms was performed. The search strategy combined indexed and in-process citations up to May 22, 2023.Out of 651 articles, 23 met the inclusion criteria, comprising 14 observational studies and 9 case reports. There was no uniformity in the criteria for diagnosing PH and PPHN among the studies. In the observational studies, the prevalence of PH varied between 18.5 and 54% (median: 26%); the prevalence of PPHN varied between 13 and 100% (median: 38.5%); and mortality varied between 4 and 50% (median 23.5%). SCA were reported in 58% of patients. In the case series, PH was present in 27.8% of the neonates, PPHN in 50%, and mortality occurred in 55.5%. About 55.5% had associated SCA. The association of SCA and preterm birth contributed significantly to increase the mortality rate.The reported prevalences of PH, PPHN, mortality, and SCA associated with GO are alarmingly high. Although the heterogeneity and limitations of the included studies prevent definitive prevalence estimates, the findings underscore the urgent need for standardized diagnostic criteria, better prenatal counseling, and management in highly specialized centers.
Corrigendum: Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.
Long-Term Pulmonary Function Outcomes in Children with Pulmonary Hypoplasia.
To determine if the underlying cause of pulmonary hypoplasia results in different trajectories of lung growth by describing pulmonary function in 8- to 13-year-old children born with congenital diaphragmatic hernia (CDH), early intervention congenital lung malformation (EICLM), and giant omphalocele (GO). We performed spirometry and plethysmography as well as echocardiograms in 81 children aged 8- to 13-years with CDH, EICLM, and GO. Clinical and demographic data were collected at the study visit and from electronic medical records. Quantitative analyses of right ventricular function were retrospectively performed. Fifty-two children with CDH, 17 with EICLM, and 12 with GO were included in the study. Most patients (51.9%) had abnormal lung function. Those with CDH and EICLM were more likely to have an obstructive process, while subjects with GO frequently had restrictive disease. Chest wall abnormalities, patch repair, larger diaphragm defect, and intrathoracic liver position were associated with abnormal lung function in patients with CDH. Abnormal lung function tended to be associated with lower right ventricular function, although this was not statistically significant. Abnormal lung function persists into late childhood in patients with CDH, EICLM, and GO. However, specific patterns of pulmonary function abnormalities occur in each disorder. These findings suggest that lung growth and remodeling likely differ depending on the underlying cause of pulmonary hypoplasia.
Navigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.
A term neonate (TN) of 2 days, delivered by lower segment caesarean section in a private nursing home of a rural area, was referred to the outpatient department of paediatric surgery with a chief concern of large abdominal swelling and mild respiratory distress. The TN was diagnosed with giant omphalocele and a right diaphragmatic hernia.Intraoperatively, the omphalocele sac was found to contain liver, stomach, spleen and small intestine, with the latter herniating through a right diaphragmatic defect. Additionally, the lower part of the heart was adhered to the under-surface of the sac in the right upper hypochondrium. The coexistence of a giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy (POC) makes this case unique, highlighting the need to consider this anomaly in similar presentations.
Publicações recentes
Case Report: Staged surgical repair and negative pressure wound therapy in congenital omphalocele.
Pulmonary Hypertension Association with mortality in Newborns with Giant Omphalocele: A Systematic Review and Meta-Analysis.
Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.
Corrigendum: Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.
A multi-institutional comparison of management techniques for infants with giant omphalocele.
📚 EuropePMC143 artigos no totalmostrando 102
Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.
Frontiers in pediatricsCorrigendum: Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieA multi-institutional comparison of management techniques for infants with giant omphalocele.
Journal of pediatric surgeryAnterolateral thigh flap combined with free fascia lata graft for an adult abdominal wall defect reconstruction: a special case report.
Frontiers in surgeryThe effect of imaging evaluation on surgery for giant omphalocele: a case description.
Quantitative imaging in medicine and surgeryGiant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieVaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes.
Prenatal diagnosisLong-Term Pulmonary Function Outcomes in Children with Pulmonary Hypoplasia.
The Journal of pediatricsEuropean Paediatric Surgeons' Association Consensus Statement on the Management of Giant Omphalocele.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieBeyond the womb: prenatal MRI's prognostic abilities for morbidity and mortality in neonates with omphaloceles.
Journal of perinatology : official journal of the California Perinatal AssociationNavigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.
BMJ case reportsPlacental Membrane Transplantation: Can It Be A Solution For Tissue Defect Repair In Giant Omphaloceles.
Transplantation proceedingsCombined negative pressure wound therapy with new wound dressings to repair a ruptured giant omphalocele in a neonate: a case report and literature review.
BMC pediatricsPre- and postnatal botulinum toxin abdominal wall muscle relaxation in hepato-omphalocele.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaCase Report: Tissue Expanders-Another Tool in the Armamentarium for the Treatment of Complex Ventral Hernia.
Journal of abdominal wall surgery : JAWSGiant omphalocele with right lung agenesia and bronchial tracheal hypoplasia: A case report.
Radiology case reportsRuptured giant omphalocele with congenital short small intestine: a case report.
Frontiers in nutritionManaging giant omphalocele: A systematic review of surgical techniques and outcomes.
Acta paediatrica (Oslo, Norway : 1992)Use of a new vertical traction device for early traction-assisted staged closure of congenital abdominal wall defects: a prospective series of 16 patients.
Pediatric surgery internationalEnhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches.
CureusGiant omphalocele: A novel approach for primary repair in the neonatal period using botulinum toxin.
Revista do Colegio Brasileiro de Cirurgioes[Infrequent association of OEIS complex with a diaphragmatic defect].
Andes pediatrica : revista Chilena de pediatriaUmbilical cord sparing technique of umbilicoplasty in infants with giant omphalocele.
World journal of pediatric surgeryAbdominal wall defect repair with component separation technique for giant omphalocele with previous relaxing incisions on the abdominal skin.
Surgical case reportsThe comorbidities of recurrent inguinal hernia in children: A systematic review.
Pediatrics international : official journal of the Japan Pediatric SocietySuccessful Administration of Preoperative Botox for Giant Omphalocele Repair With Ultrasound Guidance.
CureusUsing acellular porcine dermal matrix (XCM Biologic® Tissue Matrix) to repair a giant omphalocele: A case report.
MedicineVacuum-assisted staged omphalocele reduction: A preliminary report.
Frontiers in pediatricsCombined negative pressure wound therapy with irrigation and dwell time and artificial dermis prevents infection and promotes granulation formation in a ruptured giant omphalocele: a case report.
BMC pediatricsSuccessful device closure by Amplatzer vascular plug II of a rare celiacomesenteric trunk-to-right atrium fistula in a repaired giant omphalocele.
Cardiology in the youngPrevention of Tracheo-Innominate Artery Fistula Formation as a Complication of Tracheostomy: Two Case Reports.
Children (Basel, Switzerland)Systemic Inflammation Is Associated with Pulmonary Hypertension in Isolated Giant Omphalocele: A Population-Based Study.
Healthcare (Basel, Switzerland)Current Challenges in the Treatment of the Omphalocele-Experience of a Tertiary Center from Romania.
Journal of clinical medicineGiant omphalocele associated pulmonary hypertension: A retrospective study.
Frontiers in pediatricsA Method of Conservative Management of Giant Omphalocele Useful in Preventing Rupture of Sac.
West African journal of medicineRefractory CSF leakage following untethering surgery performed 10 months after birth for enlarging terminal myelocystocele associated with OEIS complex.
Surgical neurology internationalSuccessful treatment of hepatic and mesh Aspergillosis in a neonate with giant omphalocele.
Journal de mycologie medicaleSuccessful Management of Complex Pediatric and Neonatal Wounds With Methylene Blue and Gentian Violet Foam Dressings.
Wounds : a compendium of clinical research and practiceA giant omphalocele neonate supported by extra-corporeal membrane oxygenation.
Pediatrics international : official journal of the Japan Pediatric SocietyPredicting neonatal outcomes in infants with giant omphalocele using prenatal magnetic resonance imaging calculated observed-to-expected fetal lung volumes.
Prenatal diagnosis[Conservative treatment of giant omphaloceles with dissodic 2% aqueous eosin: a case serie].
The Pan African medical journalPrenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing.
Annals of medicineManagement of a Biliary Sludge Ball in an Infant with Giant Omphalocele.
Journal of vascular and interventional radiology : JVIRA case series describing vacuum-assisted closure for complex congenital abdominal wall defects.
La Clinica terapeuticaCombined Staged Surgery and Negative-Pressure Wound Therapy for Closure of a Giant Omphalocele.
Case reports in pediatricsA Novel Surgical Approach for the Management of Cloacal Exstrophy with a Giant Omphalocele.
European journal of pediatric surgery reportsComplex ventral hernia repair in a child: An association of botulinum toxin, progressive pneumoperitoneum and negative pressure therapy. A case report on an arising surgical technique.
International journal of surgery case reportsThe complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins: A case report of a rare congenital anomaly.
MedicineRapidly involuting congenital hemangioma of the liver in a newborn with incomplete Pentalogy of Cantrell: description of a new association.
Journal of surgical case reportsComplex abdominal wall reconstruction after oncologic resection in a sequalae of giant omphalocele: A case report.
International journal of surgery case reportsGiant omphalocele: Delayed closure using the San Martin technique following epithelialization of the membrane.
Journal of pediatric surgeryMortality in neonates with giant omphalocele subjected to a surgical technique in Barranquilla, Colombia from 1994 to 2019.
Scientific reportsSuccessful closure of a large abdominal wall defect using endoscopic component separation technique in an infant with a giant ventral hernia after staged surgery for omphalocele.
Surgical case reportsModified sequential sac ligation and staged closure technique for the management of giant omphalocele.
Journal of pediatric surgeryManagement of giant omphalocele with a simple and efficient nonsurgical silo.
Journal of pediatric surgeryTreatment of Ruptured Giant Omphalocele and Gastroschisis with Liver Herniation using a Wound Retractor as a Novel Approach.
European journal of pediatric surgery reportsUse of Cryopreserved Human Umbilical Cord and Amniotic Membrane Allograft and Portable Negative Pressure Therapy in Dehisced Giant Omphalocele Repair: A Case Study.
Journal of wound, ostomy, and continence nursing : official publication of The Wound, Ostomy and Continence Nurses SocietyComparison of outcomes of infants with giant omphaloceles over two decades.
Journal of neonatal-perinatal medicineSuccessful abdominal wall closure following collagen-based artificial dermis induced epithelialization for giant omphalocele: A case report.
International journal of surgery case reportsSystematic review of mortality associated with neonatal primary staged closure of giant omphalocele.
Journal of pediatric surgeryGiant Omphalocele Complicated by 9P Minus Syndrome.
Journal of the National Medical AssociationGiant Isolated Omphalocele: Role of Prenatal Diagnosis in Prognostic Asessment and Perinatal Management.
Case reports in medicineOutcomes in the giant omphalocele population: A single center comprehensive experience.
Journal of pediatric surgeryComprehensive Echocardiographic Assessment of Ventricular Function and Pulmonary Pressure in the Neonatal Omphalocele Population.
American journal of perinatologyUse of Treprostinil in Pediatric Pulmonary Hypertension: Case Reports and Review of the Literature.
Journal of cardiovascular pharmacologyRepair of Ruptured Omphalocele Sac in the Neonatal Period and Beyond.
Journal of Indian Association of Pediatric SurgeonsVentral hernia secondary to giant omphalocele in a child: combined approach of botulinum toxin and preoperative progressive pneumoperitoneum.
Hernia : the journal of hernias and abdominal wall surgeryManagement of Giant Omphalocele Leading to Early Fascial Closure.
CureusOmphalocele at school age: What do parents report? A call for long-term follow-up of complex omphalocele patients.
Early human developmentAutism spectrum disorder and neurodevelopmental delays in children with giant omphalocele.
Journal of pediatric surgeryImpact of Breast Milk, Respiratory Insufficiency, and Gastroesophageal Reflux Disease on Enteral Feeding in Infants With Omphalocele.
Journal of pediatric gastroenterology and nutritionLong term complications and outcomes in omphalocele.
Seminars in pediatric surgeryRespiratory disorders in patients with omphalocele.
Seminars in pediatric surgeryOperative versus conservative treatment for giant omphalocele: Study of French and Ivorian management.
Annales de chirurgie plastique et esthetique15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies.
Case reports in pediatricsNonoperative management of giant omphalocele leading to early fascial closure.
Journal of pediatric surgeryEarly surgical management for giant omphalocele: Results and prognostic factors.
Journal of pediatric surgeryRepair of a Giant Omphalocele in an Infant With a Pericardial Implant Crosslinked With Oligourethane.
Artificial organsAccuracy and impact of prenatal diagnosis in infants with omphalocele.
Pediatric surgery internationalOmphalocele: from diagnosis to growth and development at 2 years of age.
Archives of disease in childhood. Fetal and neonatal editionDressed for success? Silver impregnated nanocrystalline dressing for initial treatment of giant omphalocele.
Journal of pediatric surgeryPredictors of mortality in neonates with giant omphaloceles.
Minerva pediatricaHigh Prevalence of Pulmonary Hypertension Complicates the Care of Infants with Omphalocele.
NeonatologyPentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: Successful prenatal diagnosis and cesarean delivery.
Congenital anomaliesStaged closure of a giant omphalocele with amnion preservation, modified technique.
Saudi medical journalDelayed Closure of Giant Omphaloceles in West Africa: Report of Five Cases.
European journal of pediatric surgery reportsGiant Omphalocele Complicated by Postoperative Duodenal Obstruction.
APSP journal of case reportsManagement of giant omphaloceles: A systematic review of methods of staged surgical vs. nonoperative delayed closure.
Journal of pediatric surgery[Tissue expansion in management of giant omphalocele parietal sequelae].
Annales de chirurgie plastique et esthetiqueTopical Iodine-Induced Thyrotoxicosis in a Newborn with a Giant Omphalocele.
AJP reportsHDlive imaging of a giant omphalocele.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySeizure After Abdominal Surgery in an Infant Receiving a Standard-Dose Postoperative Epidural Bupivacaine Infusion.
A & A case reportsManagement of a Giant Omphalocele with Non-Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy.
European journal of pediatric surgery reportsNegative pressure wound therapy for initial management of giant omphalocele.
American journal of surgeryExtended Component Separation for Repair of High Ventral Hernia in Pediatric Omphalocele.
Plastic and reconstructive surgery. Global openMultilayered Flap Technique: A Method for Delayed Closure of Giant Omphalocele.
Annals of plastic surgeryGiant Omphalocele in an Adolescent Boy.
The Indian journal of surgeryFrequency and complications of inguinal hernia repair in giant omphalocele.
Journal of pediatric surgeryAn epigastric heteropagus twin with ruptured giant omphalocele.
Journal of neonatal surgeryGiant omphaloceles: surgical management and perinatal outcomes.
The Journal of surgical researchSystemic hypertension in giant omphalocele: An underappreciated association.
Journal of pediatric surgeryPatient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele.
Early human developmentAssociações
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Ainda não temos associações cadastradas para Giant omphalocele.
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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.
- Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.
- Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie· 2026· PMID 40675190mais citado
- Corrigendum: Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie· 2026· PMID 41720460mais citado
- Long-Term Pulmonary Function Outcomes in Children with Pulmonary Hypoplasia.
- Navigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.
- Case Report: Staged surgical repair and negative pressure wound therapy in congenital omphalocele.
- Pulmonary Hypertension Association with mortality in Newborns with Giant Omphalocele: A Systematic Review and Meta-Analysis.
- A multi-institutional comparison of management techniques for infants with giant omphalocele.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:695032(Orphanet)
- MONDO:0979281(MONDO)
- Busca completa no PubMed(PubMed)
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
