Onfalocele é uma má-formação que acontece no bebê ainda na barriga da mãe, classificada no grupo de defeitos na formação da parede abdominal. Ela se caracteriza por uma hérnia grande na parede do abdômen, bem na região do umbigo, onde os órgãos internos que ficam para fora são protegidos por uma bolsa.
Introdução
O que você precisa saber de cara
Onfalocele é uma má-formação que acontece no bebê ainda na barriga da mãe, classificada no grupo de defeitos na formação da parede abdominal. Ela se caracteriza por uma hérnia grande na parede do abdômen, bem na região do umbigo, onde os órgãos internos que ficam para fora são protegidos por uma bolsa.
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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 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
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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Mostrando amostra de 200 publicações de um total de 782
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.
Ultrastructural and Immunohistochemical Alterations in Muscle and Vascular Tissues in Patients with Omphalocele.
Omphalocele is a congenital abdominal wall defect whose underlying muscular and fascial structural characteristics remain incompletely understood. This study aimed to investigate the anatomical and ultrastructural features of the abdominal wall in patients with omphalocele to provide additional insight into tissue organization at the defect margins. We report a series of 11 term-born patients diagnosed with omphalocele between 2024 and 2025 who were admitted to a pediatric surgery department for operative management. Following informed consent from legal guardians, two small intraoperative biopsies were obtained during surgical repair from the rectus abdominis muscle and its anterior aponeurosis, sampled from the supraumbilical and subumbilical regions. Tissue specimens were fixed within 48 h and analyzed using conventional histopathology and scanning electron microscopy to assess potential structural and ultrastructural alterations. The combined microscopic approaches allowed for a detailed evaluation of muscle and aponeurotic architecture in different abdominal regions. These observations contribute to a more comprehensive understanding of abdominal wall tissue characteristics in omphalocele and may support improved interpretation of the structural changes associated with this congenital condition.
Proxy-reported health-related quality of life in children with omphalocele: a cross-sectional study in China.
Omphalocele is a congenital anomaly requiring complex treatment. Existing evidence on the health-related quality of life (HRQoL) in omphalocele is limited by small sample sizes, inconsistent findings, and a lack of data from Chinese populations. This study aimed to quantify HRQoL in children with omphalocele using the Pediatric Quality of Life Inventory (PedsQL) in a relatively large patient cohort and to identify demographic and clinical factors associated with children's HRQoL. We conducted a cross-sectional, questionnaire-based study among caregivers of children with omphalocele treated at the Children's Hospital, Zhejiang University School of Medicine in Hangzhou, China. In total, caregivers of 124 children were recruited and completed the questionnaire. HRQoL was assessed using the Chinese version of PedsQL Infants Scales (parent-proxy for infants/toddlers aged 1-24 months) and PedsQL Generic Core Modules (GCM) (parent-proxy for children aged 2-4 years). Additionally, demographic and clinical information were also collected via questionnaires. Differences in HRQoL scores across subgroups were assessed by two-independent-samples t-tests and one-way analysis of variance (ANOVA). Multivariate linear regression analysis was performed to identify the determinants associated with children's HRQoL. Among 124 children, the median age was 2.0 years, and 46.8% were girls. For children aged 1-24 months, the total score and scores of certain scales (i.e., physical functioning, physical symptoms, emotional functioning, cognitive functioning) were significantly lower in patients than scores in the healthy controls (P values <0.05) with the effect sizes ranging from 0.33 to 0.86. For children aged 2 to 4 years, the total score and the scores on three scales (i.e., physical, emotional, and social functioning) were statistically significantly higher in patients than in healthy controls (P values <0.05), with effect sizes ranging from 0.53 to 0.94. Age and the presence of other malformations were significantly associated with the total score of PedsQL GCM (P values <0.05). The HRQoL of children under 2 years of age with omphalocele is lower than that of healthy children. With increasing age, the HRQoL of children with omphalocele improves, whereas the presence of additional malformations has a negative impact on their HRQoL.
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing identified hemizygous maternally inherited FLNA gene variants in P1 (c.733G>A; p.Glu245Lys) and P2 (c.3707G>A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.
ERNICA evidence based guideline on omphalocele.
Publicações recentes
Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.
Case Report: Staged surgical repair and negative pressure wound therapy in congenital omphalocele.
Prolapsed Meckel's diverticulum through an intact omphalocele sac.
Pulmonary Hypertension Association with mortality in Newborns with Giant Omphalocele: A Systematic Review and Meta-Analysis.
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex.
📚 EuropePMC1.104 artigos no totalmostrando 198
Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.
Frontiers in pediatricsPerioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.
Journal of medical casesPatient-Reported Long-Term Gastrointestinal Outcomes in Children with Omphalocele and Gastroschisis: A PedsQL GI Module Study.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieERNICA evidence based guideline on omphalocele.
Orphanet journal of rare diseasesA Pilot Study to Advance Task-Sharing of Gastroschisis Management in Uganda.
Annals of global healthTwin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.
Ultrasound (Leeds, England)A Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.
Children (Basel, Switzerland)Otopalatodigital Syndrome Type 2: A Case Report.
Neonatal network : NNCorrigendum: 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 KinderchirurgieUnraveling the genetic basis of omphalocele: A systematic review.
Journal of pediatric surgeryEnhancing rare disease guideline development with real-world data: a method evaluation.
BMC medical research methodologyUltrastructural and Immunohistochemical Alterations in Muscle and Vascular Tissues in Patients with Omphalocele.
International journal of molecular sciencesProxy-reported health-related quality of life in children with omphalocele: a cross-sectional study in China.
Translational pediatricsVaginal Reconstruction Using Urinary Bladder Tissue in a Patient with OEIS Complex: A Case Report.
Journal of pediatric and adolescent gynecology[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA Historical Review of Gastroschisis: Evolution of Understanding, Diagnosis, and Surgical Management.
Children (Basel, Switzerland)A Case of Familial CDKN1C-Related Beckwith-Wiedemann Syndrome.
Prenatal diagnosisThe Relationship between Social Vulnerability Index, Area Deprivation Index, and Child Opportunity Index, and Treatment Course Characteristics in Infants with Surgically Intervenable Congenital Anomalies.
American journal of perinatologyMultidisciplinary perioperative management of cloacal exstrophy bladder closure: A single institution's approach.
Journal of pediatric urologyCRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.
Genesis (New York, N.Y. : 2000)Surgeon annual volume impacts recurrence rates of pediatric inguinal hernia repairs: A multi-institutional study.
Journal of pediatric surgeryBeyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.
Children (Basel, Switzerland)Long-term follow-up of scar quality and satisfaction after surgical closure of congenital abdominal wall defects: a single center perspective.
Pediatric surgery internationalLoss of the Maternal Effect Gene NLRP2 Impairs Embryonic and Extra-Embryonic Development, Revealing a Novel Genetic Cause of Congenital Anomalies†.
Biology of reproductionProspective outlook on negative pressure wound therapy (NPWT) for gastroschisis and ruptured omphalocele: A scoping review.
The Medical journal of MalaysiaAn Atypical Presentation of a Large Congenital Umbilical Cord Hernia Antenatally Diagnosed as an Omphalocele With the Sole Left Lobe of the Liver: A Case Report.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyCan Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?
Prenatal diagnosisOmphalocele and patent omphalomesenteric duct with ileal prolapse in a syndromic baby: A case report and review of the literature.
International journal of surgery case reportsObstructive uropathy in a female infant with a single kidney: Unmasking congenital urethral stenosis: A case report and review of the literature.
International journal of surgery case reportsOpen cholecystectomy via liver evisceration with a history of neonatal malrotation and omphalocele.
BMJ case reportsA multi-institutional comparison of management techniques for infants with giant omphalocele.
Journal of pediatric surgeryUltrasound findings of abdominal compartment syndrome after omphalocele repair.
Pediatric radiologyClinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score.
Molecular syndromologyAnterolateral thigh flap combined with free fascia lata graft for an adult abdominal wall defect reconstruction: a special case report.
Frontiers in surgerySurgical Repair of Tetralogy of Fallot and a Large Congenital Diaphragmatic Hernia in a 16-Week-Old Infant With Pentalogy of Cantrell and a Large Omphalocele: A Case Report.
World journal for pediatric & congenital heart surgeryFetus in Fetu Presenting as a Second Head: A Rare Case Report with Pathologic Correlation.
Fetal and pediatric pathologyExtremely Rare Co-occurrence of Left Gastroschisis-Like Abdominal Wall Defect and an Omphalocele in a Very Low Birth Weight Infant: A Case Report.
Surgical case reportsMaternal Health Literacy and Prenatal Learning Experiences Related to Diagnosis and Surgical Management: A Qualitative Study of Women With Pregnancies Associated With Surgically Correctable Congenital Anomalies.
Prenatal diagnosisHigh-volume hospitals experience fewer postoperative complications after neonatal surgery: Analyses of the National Clinical Database Pediatric Surgical Registry in Japan.
Journal of pediatric surgeryMaternal and offspring outcomes associated with prescribed ADHD medication in pregnancy: a systematic review.
Archives of women's mental healthThe effect of imaging evaluation on surgery for giant omphalocele: a case description.
Quantitative imaging in medicine and surgeryNeonatal demise from a complex abdominal wall defect in a low-resource setting: A case study on the consequences of a fractured perinatal care cascade.
Radiology case reportsBorderline Z-scores in non-invasive prenatal screening: does its presence hold clinical significance?
Archives of gynecology and obstetricsConcurrent Prolapsed Omphalocele and Giant Hepatic Cyst Initially Suspected as an Umbilical Cord Cyst in the Prenatal Period: A Case Report.
Surgical case reportsHyperbaric oxygen treatment of neonates: a case series.
Diving and hyperbaric medicineNeurodevelopmental disorders in children with congenital abdominal wall defects: a national population-based study.
Pediatric surgery internationalHand1 gene replacement with Hand2 reveals overlap in function with unique occurrence of omphalocele and heart defects.
Development (Cambridge, England)Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.
Translational pediatricsLeveraging Health Insurance Claims Data to Complement the Centers for Disease Control and Prevention Surveillance System for Birth Defects.
Birth defects researchPhenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
Clinical geneticsPrevalence of Congenital Malformations in the Oriental Region of Morocco.
CureusThyroid Hormone Deficiency Disrupts Embryonic Ventral Body Wall Development and Myogenesis With Partial Recovery Following LevothyroxineTherapy.
Birth defects researchChallenges in prenatal care of ectopic cordis: Case series and literature review.
Radiology case reportsHaploinsufficiency of ABL1 is associated with dominant isolated omphalocele.
Frontiers in cell and developmental biologyMind the right ventricle: Tackling right heart dysfunction in left ventricular diverticulum with omphalocele.
Journal of clinical imaging science[Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsLate-onset midgut volvulus 8 years following a neonatal omphalocele repair: a case report and review.
Journal of surgical case reportsPrenatal detection rate of congenital anomalies over a period of 30 years: A population-based registry study.
European journal of obstetrics, gynecology, and reproductive biologyPartial Glossectomy in a 2-month-old Infant with Beckwith-Wiedemann Syndrome - A Case Report.
Annals of maxillofacial surgeryDistinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report.
Journal of medical case reportsDelayed primary surgery and outcomes in children with gastrointestinal anomalies in 264 hospitals and 74 countries.
American journal of epidemiologyDistal Ileal Atresia in a Preterm Infant with Minor Omphalocele: A Case Report.
Surgical case reportsGiant 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 KinderchirurgiePrevalence of Critical Congenital Heart Defects Among Neonates Born With Abdominal Wall Defects.
Prenatal diagnosisGastroschisis - current options for prenatal diagnosis and subsequent management.
Ceska gynekologieSystematic Review of the Prevalence of Gastrointestinal Congenital Anomalies: A Global and Regional Review Protocol.
Sage open pediatricsThe Global Burden of Major Gastrointestinal Anomalies: A Global, Systematic Review of Gastrointestinal Anomaly Birth Prevalence.
Sage open pediatricsAssociations Between Fetal Genetic Abnormalities, Lesion Size, and Postnatal Outcomes Among Pregnancies Complicated by Fetal Omphalocele.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineVaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes.
Prenatal diagnosisSigmoid colon duplication associated with urogenital malformations: A rare case report.
International journal of surgery case reportsRenal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification.
Orphanet journal of rare diseasesClinical Utility of Indocyanine Green Fluorescence in Neonatal Surgery: A Single-Center Study and Systematic Review.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieMaternal Prenatal Cannabis Use and Major Structural Birth Defects.
Birth defects researchThird trimester diagnosis of body stalk anomaly in a dichorionic diamniotic twin pregnancy.
BMJ case reportsA 19-Month-Old Girl With Acute Choledocholithiasis: A Case Report.
CureusRisk factors for neural tube defects in the war and siege-affected tigray regional state of ethiopia: a case-control study.
BMC pregnancy and childbirthLong-Term Pulmonary Function Outcomes in Children with Pulmonary Hypoplasia.
The Journal of pediatricsAberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.
Prenatal diagnosisImaging of the umbilicus.
Abdominal radiology (New York)Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.
BMC medical genomicsEuropean 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 KinderchirurgieUnique Case of Epigastric Heteropagus Twins: A Surgical Challenge.
CureusContribution of nationwide medico administrative data on congenital anomalies in France: Validation study on congenital diaphragmatic hernia.
Journal of epidemiology and population healthBeyond the womb: prenatal MRI's prognostic abilities for morbidity and mortality in neonates with omphaloceles.
Journal of perinatology : official journal of the California Perinatal AssociationMaternal Cell-Free DNA Analysis in a Fetus Affected by Beckwith-Wiedemann Syndrome: Potential for Prenatal Diagnosis.
CureusMosaic trisomy 18 at amniocentesis in a pregnancy associated with omphalocele, intrauterine growth restriction, trisomy 18 placenta, an elevated sFlt-1/PlGF ratio and an adverse perinatal outcome in the fetus.
Taiwanese journal of obstetrics & gynecologyPediatric Perioperative Mortality in Southeastern (SE) Nigeria-A Multicenter, Prospective Study.
Nigerian journal of clinical practiceThe Value of Nuchal Translucency (NT) Ultrasonography for Fetal Malformation Screening.
Nigerian journal of clinical practiceInsights into Congenital Body Stalk Anomaly Coupled with Placenta Accreta Conditions: A Case Report.
The American journal of case reportsTissue expansion in the pediatric patient: A 23-year single-institution experience.
Journal of plastic, reconstructive & aesthetic surgery : JPRASEctopia cordis with multiple congenital malformations: rare but real.
Journal of ultrasoundElective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972-2012).
American journal of medical genetics. Part AAnesthesia for Pentalogy of Cantrell with Surgical Repair of Tetralogy of Fallot Along with Absent Diaphragm: A Case Study.
Annals of cardiac anaesthesiaManagement of an omphalocele with ileal perforation: A case report.
International journal of surgery case reportsNavigating cholecystitis in an ectopic pelvic liver: a surgical challenge after omphalocele repair.
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary TractReconstruction of a Sternal Cleft and Ventral Hernia in an Adolescent with Pentalogy of Cantrell Utilizing Titanium Plates.
The American surgeonOmphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review.
Diagnostics (Basel, Switzerland)Navigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.
BMJ case reportsThe Prognostic Impact of Defect Size Based on Body Surface Area in Omphaloceles.
Journal of pediatric surgeryConcomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester.
Taiwanese journal of obstetrics & gynecologyPopulation-based assessment of major congenital malformations in the United States: smoking risk association.
Journal of developmental origins of health and diseaseMaternal Diarrhea During the Periconceptional Period and the Risk of Birth Defects, National Birth Defects Prevention Study, 2006-2011.
Birth defects researchThe Relationship Between Socioeconomic Status and Omphalocele Prevalence.
Journal of pediatric surgeryUnravelling complexity: simultaneous detection of fetal omphalocele and myelomeningocele misdiagnosed as sacrococcygeal teratoma.
BMJ case reportsA Teen With Trisomy 18: Challenges and Triumphs of a Long Life With Edwards Syndrome.
CureusUnexpected Detection of Cephalad Renal Ectopia Due to Large Omphalocele Containing the Liver on Tc-99m DMSA Scintigraphy.
Molecular imaging and radionuclide therapyComplete pentalogy of Cantrell associated with ectopia cordis and multiple anomalies: A case report from a low-resource setting.
Radiology case reportsGlobal birth prevalence of major congenital anomalies: a systematic review and meta-analysis.
BMC public healthPrenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.
Journal of community geneticsPlacental 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 PediatricaNeurosurgical strategy based on the type of occult spinal dysraphism in omphalocele-exstrophy-imperforate anus-spinal defects complex: A review of 10 cases.
Surgical neurology internationalClinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
European journal of pediatricsA Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.
Prenatal diagnosis[Clinical characteristics and risk factors for adverse outcomes in omphalocele].
Zhonghua er ke za zhi = Chinese journal of pediatricsBladder exstrophy-epispadias-cloacal exstrophy complex: characteristics, aetiologies, and epidemiologic findings.
African urologyA rare presentation of OEIS complex in a spontaneous dizygotic twin pregnancy: A case report and literature review.
Radiology case reportsSurgical management of a massive omphalocele in a newborn: A case report study.
International journal of surgery case reportsAnterior abdominal wall defects and their management outcomes in Tikur Anbessa Specialized Hospital, neonatal intensive care unit.
JPGN reportsOmphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997-2021.
Pediatric surgery internationalThe Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report.
CureusOutcomes of Gastroschisis and Omphalocele Treated at Children's Surgery Verified Centers in Texas.
The Journal of surgical researchTemporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.
World journal of pediatrics : WJPPrenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.
Frontiers in geneticsOptimal Strategies for Screening Common Birth Defects in Children of Low- and Middle-Income Countries: A Systematic Review.
NeonatologyCase Report: Tissue Expanders-Another Tool in the Armamentarium for the Treatment of Complex Ventral Hernia.
Journal of abdominal wall surgery : JAWSManagement of cloacal exstrophy: Experience from tertiary hospital, Tanzania. Case series.
International journal of surgery case reportsA case of isolated malrotation without midgut volvulus diagnosed prenatally and treated by laparoscopic surgery.
Surgical case reportsComparison of total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in Hunan Province, China, 2016-2020.
Frontiers in public healthPrenatal diagnosis of omphalocele with extracorporeal liver.
Radiology case reportsThe application value of prenatal ultrasound in conjoined twins.
Journal of clinical ultrasound : JCUGiant omphalocele with right lung agenesia and bronchial tracheal hypoplasia: A case report.
Radiology case reportsEmbryonic Thyroid Hormone Insufficiency Causes Structural Anomalies in the Embryo of Domestic Chick, Gallus domesticus.
Anatomia, histologia, embryologiaPerinatal outcomes of antenatally diagnosed omphalocele and gastroschisis: a survey from a university hospital.
Journal of the Turkish German Gynecological AssociationCongenital Umbilical Cord Hernia: Prenatal and Postnatal Management.
AJP reportsPrenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.
BMC medical genomicsLimited Role of MSAFP Screening for Prenatal Omphalocele Detection.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineLong-Term Assessment of Aesthetic Results in Omphalocele Repair with POSAS Scale.
Aesthetic plastic surgeryInternational treatment outcomes of neonates on extracorporeal membrane oxygenation (ECMO) with persistent pulmonary hypertension of the newborn (PPHN): a systematic review.
Journal of cardiothoracic surgeryThoracic ectopia cordis: A case report.
MedwaveMorbidity in giant omphaloceles: Predictive factors and management strategies.
Acta paediatrica (Oslo, Norway : 1992)Prenatal Prognosis of Omphalocele Using Magnetic Resonance Imaging Measurement of Fetal Lung Volumes.
American journal of obstetrics & gynecology MFMRuptured giant omphalocele with congenital short small intestine: a case report.
Frontiers in nutritionMaternal implications of fetal anomalies: a population-based cross-sectional study.
American journal of obstetrics & gynecology MFMClinical characteristics and outcome of omphalocele and gastroschisis: a 20-year multicenter regional experience.
Pediatric surgery internationalTwo Congenital Gastrointestinal Malformations: A Case of Omphalocele and Meckel's Diverticulum in a Neonate.
CureusManaging giant omphalocele: A systematic review of surgical techniques and outcomes.
Acta paediatrica (Oslo, Norway : 1992)Phenotypic and cytogenetic variability of patau syndrome in Morocco.
African health sciencesUse 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 international[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionPrenatal Diagnosis of Beckwith-Wiedemann Syndrome with Omphalocele.
NeoReviewsBODY STALK ANOMALY: CLINICAL AND HISTOPATHOLOGIC FINDINGS OF THIS RARE ANOMALY IN A NIGERIAN NEWBORN.
Annals of Ibadan postgraduate medicineCongenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020.
Journal of community geneticsCloacal Exstrophy with Normal Penis and Urethra - A Rare Variant.
Journal of Indian Association of Pediatric SurgeonsAcellular Bovine Pericardial Patch for Difficult Abdominal Closure in the Pediatric Population: Our Experience with Review of Literature.
Journal of Indian Association of Pediatric SurgeonsOvary and Fallopian Tube Displacement in an Adolescent Patient with a History of Omphalocele.
Journal of pediatric and adolescent gynecologyFrequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review.
Congenital anomaliesPrune belly syndrome: A rare case report.
Clinical case reportsBiallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype.
European journal of medical geneticsClinical image of omphalocele: a rare congenital defect of the abdominal wall.
The Pan African medical journalExpanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.
American journal of medical genetics. Part ASurgical Management of Omphalocele With Concurrent Ileal Atresia: A Case Report.
CureusExpansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
American journal of medical genetics. Part AA rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome.
International journal of surgery case reportsAnatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study.
Pediatric surgery internationalA Comparative Analysis of Quality of Life in Children Managed for Omphalocele and Gastroschisis.
African journal of paediatric surgery : AJPSBeckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review.
CureusOBSTRUCTED CONGENITAL HERNIA OF UMBILICAL CORD IN A NIGERIAN NEWBORN AND ITS DIAGNOSTIC CONUNDRUM.
Annals of Ibadan postgraduate medicineSurgical technique for epigastric incisional hernia after omphalocele repair: bilateral modified composite flaps using the upper rectus abdominis muscle and the vertically inverted flap of the lower rectus abdominis fascia.
Journal of surgical case reportsOIES complex diagnosed by in utero ultrasound a case report.
International journal of surgery case reportsNovel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias.
Fetal and pediatric pathologyOpen abdominal wall defects and open spina bifida at a regional hospital in northern KwaZulu-Natal - bellwether conditions for neonatal surgery capacity.
South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgieUnderstanding and managing a case of the omphalocele-exstrophy-imperforate anus-spinal defect complex.
Journal of surgical case reportsRapid detection of maternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency thickness and omphalocele on first-trimester prenatal ultrasound.
Taiwanese journal of obstetrics & gynecologyLUMBAR syndrome-OEIS complex overlap: A case series and review.
American journal of medical genetics. Part ALimb-body wall complex: Literature review and case report.
Birth defects research[Gastroschisis and omphalocele: Incidence and outcome].
LaeknabladidReassessing acquired neonatal intestinal diseases using unsupervised machine learning.
Pediatric researchInvestigation of a transient increase in omphalocele prevalence in a birth cohort of TRICARE beneficiaries.
Birth defects researchGastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.
Birth defects researchMental Health Outcomes of Mothers of Children With Congenital Gastrointestinal Anomalies Are Similar to Control Mothers: A Longitudinal Retrospective Cohort Study.
Journal of pediatric surgeryMonochorionic triplet pregnancy complicated by conjoined twins and early twin-twin transfusion syndrome.
Birth defects researchAssociations between maternal periconceptional alcohol consumption and risk of omphalocele among offspring, National Birth Defects Prevention Study, 1997-2011.
Preventive medicineBeckwith-Wiedemann Syndrome Diagnosed in the Early Second Trimester in Two Fetuses with Isolated Omphalocele.
Journal of medical ultrasoundNational population-based estimates for major birth defects, 2016-2020.
Birth defects researchRapid diagnosis of maternal origin of fetal trisomy 13 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with young maternal age and omphalocele on prenatal ultrasound.
Taiwanese journal of obstetrics & gynecologyTemporal Trends of Neonatal Surgical Conditions in Texas and Accessibility to Pediatric Surgical Care.
The Journal of surgical researchThe Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report.
CureusDevelopment of a low-cost congenital abdominal wall defect simulator (wall-go) for undergraduate medical education: a validation study.
BMC medical educationDe novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
American journal of medical genetics. Part AAutonomous and non-cell autonomous role of cilia in structural birth defects in mice.
PLoS biologyNeonate with an abnormal umbilicus.
Journal of the American College of Emergency Physicians openRetrospective Analysis of Neonatal Surgery at Tottori University over the Past Ten Years.
Yonago acta medicaEnhancing 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 CirurgioesEchocardiographic measurements of left ventricular dimensions and function in newborns with omphalocele and pulmonary.
BMC pediatricsUnrepaired cloacal exstrophy in an adult: Medical and ethical considerations.
Urology case reportsAssociações
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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.
- Ultrastructural and Immunohistochemical Alterations in Muscle and Vascular Tissues in Patients with Omphalocele.
- Proxy-reported health-related quality of life in children with omphalocele: a cross-sectional study in China.
- Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
- ERNICA evidence based guideline on omphalocele.
- Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.
- Case Report: Staged surgical repair and negative pressure wound therapy in congenital omphalocele.
- Prolapsed Meckel's diverticulum through an intact omphalocele sac.
- Pulmonary Hypertension Association with mortality in Newborns with Giant Omphalocele: A Systematic Review and Meta-Analysis.
- Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:660(Orphanet)
- MONDO:0019015(MONDO)
- GARD:16540(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1521567(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.
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