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Pentalogia de Cantrell
ORPHA:1335CID-10 · Q89.7CID-11 · LD2F.1YOMIM 313850DOENÇA RARA

Pentalogia de Cantrell (POC) é uma síndrome de anomalias congênitas múltiplas letais, caracterizada pela presença de 5 malformações principais: defeito supraumbilical da parede abdominal na linha média, defeito esternal inferior, defeito pericárdico diafragmático, defeito diafragmático anterior e diversas malformações intracardíacas. A ectopia cordis (EC) é frequentemente encontrada em fetos com POC.

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Introdução

O que você precisa saber de cara

📋

Pentalogia de Cantrell (POC) é uma síndrome de anomalias congênitas múltiplas letais, caracterizada pela presença de 5 malformações principais: defeito supraumbilical da parede abdominal na linha média, defeito esternal inferior, defeito pericárdico diafragmático, defeito diafragmático anterior e diversas malformações intracardíacas. A ectopia cordis (EC) é frequentemente encontrada em fetos com POC.

Publicações científicas
295 artigos
Último publicado: 2026 Feb 26

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q89.7
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
5 sintomas
❤️
Coração
4 sintomas
🦴
Ossos e articulações
3 sintomas
🫘
Rins
2 sintomas
🧠
Neurológico
2 sintomas
🫃
Digestivo
2 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

90%prev.
Morfologia anormal do sistema cardiovascular
Muito frequente (99-80%)
90%prev.
Morfologia anormal do esterno
Muito frequente (99-80%)
90%prev.
Defeito do septo ventricular
Muito frequente (99-80%)
90%prev.
Hérnia diafragmática congênita
Muito frequente (99-80%)
90%prev.
Onfalocele
Muito frequente (99-80%)
90%prev.
Morfologia anormal do pericárdio
Muito frequente (99-80%)
32sintomas
Muito frequente (6)
Frequente (2)
Ocasional (17)
Sem dados (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal do sistema cardiovascularAbnormal cardiovascular system morphology
Muito frequente (99-80%)90%
Morfologia anormal do esternoAbnormal sternum morphology
Muito frequente (99-80%)90%
Defeito do septo ventricularVentricular septal defect
Muito frequente (99-80%)90%
Hérnia diafragmática congênitaCongenital diaphragmatic hernia
Muito frequente (99-80%)90%
OnfaloceleOmphalocele
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico295PubMed
Últimos 10 anos144publicações
Pico201519 papers
Linha do tempo
2026Hoje · 2026🧪 2004Primeiro ensaio clínico📈 2015Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Pentalogia de Cantrell

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

3 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
130 papers (10 anos)
#1

Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.

Veterinary sciences2026 Feb 07

Cantrell syndrome (CS) is a rare congenital disorder involving defects in the thoraco-abdominal midline, the diaphragm, the pericardium, the sternum and the heart. Since the initial description of the syndrome, 165 well-documented cases in humans have been reported, demonstrating substantial heterogeneity ranging from complete pentalogy to partial or atypical variants. A systematic review classified body wall defects and associated anomalies into nine categories, which are fully described in the manuscript. The categories include midline defects (UThAb, SUThAb, UAb, SUAb, SUICD, and UH), lateral defects (ThLAb and StLAb), and special cases. Each case was reassessed for umbilical cord status, body wall morphology, cardiac anomalies and additional malformations. Midline defects predominated (153 out of 165 cases, 92.7%), with supraumbilical variants being the most frequent. Umbilical hernias formed a distinct subgroup of ten cases. Lateral defects were uncommon (9 cases, 5.5%) and typically presented as thoracogastroschisis or lateral thoracoabdominoschisis. These defects were often associated with normal umbilical cords. Cardiac anomalies were universal, with ventricular and atrial septal defects being the most common findings. Reclassification revealed that many cases originally labeled as 'classic pentalogy of Cantrell' were more accurately classified as partial or atypical forms. This unified framework improves epidemiological understanding and diagnostic precision. From a One Health perspective, it underscores CS as a shared developmental vulnerability across mammalian species.

#2

Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.

Ultrasound (Leeds, England)2026 Feb 26

Limb body wall complex is a rare polymalformative syndrome which consists of an abdominal and/or thoracic wall defect with an extremely short umbilical cord associated with kyphoscoliosis, intestinal malrotation, and lower limb defects. A 31-year-old primigravida presented with monochorionic monoamniotic twin pregnancy with discordant anomaly. One fetus had exomphalos, acrania, bilateral talipes, a single umbilical artery, kyphoscoliosis and a short umbilical cord, findings suggestive of limb body wall complex. An ultrasound one week later revealed an unfortunate intrauterine fetal demise of both twins. The postmortem examination confirmed the antenatal diagnosis of limb body wall complex. Since the parents were anxious to avoid any risk of recurrence in subsequent pregnancies, skin samples of both babies were sent for genetic workup. The Chromosomal Micro Array of both fetuses was reported to be normal. Different pathophysiologic mechanisms have been proposed to explain the anomalies associated with limb body wall complex. These include early amnion rupture, vascular disruption, and embryonic maldevelopment. Differential diagnosis must be made with isolated gastroschisis, isolated omphalocele, and other polymalformative syndromes such as pentalogy of Cantrell. Early morphological assessment of the fetus at the time of the first-trimester screening scan can be of utmost importance to diagnose a polymalformative syndrome, which may be incompatible with life. An omphalocele, even in the absence of genetic or chromosomal abnormalities, may be associated with a lethal syndrome, that is, limb body wall complex. This should specifically be thought of and searched for, especially in fetuses who present with omphalocele in combination with curvature abnormalities of the spine.

#3

Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.

JACC. Case reports2026 Mar 18

Pentalogy of Cantrell (PC) is a rare congenital syndrome defined by 5 midline structural defects involving the heart, sternum, diaphragm, pericardium, and abdominal wall. Adult survival is exceptional, particularly in cases associated with ectopia cordis (EC). A 29-year-old asymptomatic man with ectopia cordis was evaluated using multimodal cardiac imaging, which demonstrated sternal, diaphragmatic, and pericardial defects consistent with PC, along with a large ventricular septal defect and patent ductus arteriosus causing pulmonary hypertension. Surgical correction was declined, and medical therapy was indicated with clinical stability. Comprehensive multimodal imaging allows accurate anatomic characterization and functional assessment of complex congenital malformations, while adult presentation underscores the variable spectrum of PC and the potential for survival in partial or less severe forms. PC rarely presents in adulthood. Multimodal imaging is essential for diagnosis and management. Survival depends on less severe intracardiac and thoracoabdominal defects.

#4

Navigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.

BMJ case reports2025 Mar 14

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.

#5

Giant Aberrant Vascular Structure Extending From the Left Ventricular Apex to the Umbilicus in a Newborn With Cantrell Pentalogy: Management and Transcatheter Closure.

Circulation. Cardiovascular interventions2025 Nov

Publicações recentes

Ver todas no PubMed

📚 EuropePMC195 artigos no totalmostrando 141

2026

Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.

Ultrasound (Leeds, England)
2026

Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.

Veterinary sciences
2026

Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.

JACC. Case reports
2025

THE COMPLEX ANOMALY OF THORACO-ABDOMINAL ECTOPIA CORDIS IN IBADAN: MAKING A CASE FOR IMPROVED NHIA COVERAGE: A CASE REPORT.

Annals of Ibadan postgraduate medicine
2025

Surgical 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 &amp; congenital heart surgery
2025

Giant Aberrant Vascular Structure Extending From the Left Ventricular Apex to the Umbilicus in a Newborn With Cantrell Pentalogy: Management and Transcatheter Closure.

Circulation. Cardiovascular interventions
2025

Prenatal diagnosis and management challenges of Pentalogy of Cantrell at term in a resource-constrained setting: A rare case report.

International journal of surgery case reports
2025

Challenges in prenatal care of ectopic cordis: Case series and literature review.

Radiology case reports
2025

Prenatal ultrasound diagnosis of pentalogy of Cantrell: A case report.

Medicine
2025

Late prenatal diagnosis of complete pentalogy of Cantrell.

Ceska gynekologie
2025

Pentalogy of Cantrell with Complete Ectopia Cordis.

Radiology. Cardiothoracic imaging
2025

Complex management of ectopia cordis complicated by pentalogy of cantrell: Report of two cases and review of current evidence.

International journal of surgery case reports
2025

Anesthesia for Pentalogy of Cantrell with Surgical Repair of Tetralogy of Fallot Along with Absent Diaphragm: A Case Study.

Annals of cardiac anaesthesia
2025

Reconstruction of a Sternal Cleft and Ventral Hernia in an Adolescent with Pentalogy of Cantrell Utilizing Titanium Plates.

The American surgeon
2025

Navigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.

BMJ case reports
2025

Prenatal Ultrasound Diagnosis of Incomplete Pentalogy of Cantrell: A Case Report.

Journal of clinical ultrasound : JCU
2025

Complete pentalogy of Cantrell associated with ectopia cordis and multiple anomalies: A case report from a low-resource setting.

Radiology case reports
2024

Successful Surgical Repair of Complete Pentalogy of Cantrell.

Journal of Indian Association of Pediatric Surgeons
2024

Pentalogy of Cantrell Marked With Ectopia Cordis, Gastroschisis, and Cystic Hygroma in the First Trimester: A Rare Case.

Cureus
2024

Pentalogy of Fallot with Anorectal Malformation: A Case Report.

JNMA; journal of the Nepal Medical Association
2024

Video of the Month: Pulsating Umbilicus in a Neonate with Left Ventricular Diverticulum.

European journal of pediatric surgery reports
2024

What is pentalogy of Cantrell?

Cardiology in the young
2024

Pentalogy of Cantrell: A case report from China.

Asian journal of surgery
2024

[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 edition
2024

Multidisciplinary treatment for a patient with Pentalogy of Cantrell in the COVID-19 pandemic.

Turk gogus kalp damar cerrahisi dergisi
2023

Pulsating abdominal mass in a newborn - Pentalogy of Cantrell with left ventricular diverticulum.

Annals of pediatric cardiology
2024

Fascinating Image of Pentalogy of Cantrell: Navigating Challenges for Optimal Anesthesia Care.

Anesthesiology
2023

The pentalogy of Cantrell: A rare and challenging prenatal diagnosis.

International journal of surgery case reports
2023

Surgical treatment of neonatal Cantrell pentalogy: a case report and literature review.

AME case reports
2023

Pentalogy of Cantrell in Two Neonate Littermate Puppies: A Spontaneous Animal Model Suggesting Familial Inheritance.

Animals : an open access journal from MDPI
2023

Bidirectional Glennshunt Operation In A Patient With Cantrell Syndrome And Left Ventricle Divertuculum.

Portuguese journal of cardiac thoracic and vascular surgery
2023

Ectopia cordis: prenatal diagnosis, perinatal outcomes, and postnatal follow-up of an international multicenter cohort case series.

The journal of maternal-fetal &amp; 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 Obstetricians
2023

Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report.

Iranian journal of medical sciences
2023

Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center.

Congenital anomalies
2022

Clinical and ultrasound findings of pentalogy of Cantrell in a newborn: A case report.

Frontiers in pediatrics
2023

Erector spinae plane block for thoraco-abdominal surgery in an infant with palliated tetralogy of Fallot and pentalogy of Cantrell.

Minerva anestesiologica
2022

Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging.

Prenatal diagnosis
2022

Pentalogy of Cantrell Associated with Ectopia Cordis: A Case Report.

Pediatric health, medicine and therapeutics
2022

Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report.

Radiology case reports
2022

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

American journal of medical genetics. Part A
2023

Congenital biventricular cardiac diverticula as a part of class III Cantrell's syndrome: case report.

Cardiology in the young
2022

A complete case of Cantrell's Pentalogy with isolated left ventricular diverticulum.

Cardiology in the young
2021

[Ventricular diverticulum in Cantrell´s pentalogy: rare but not isolated entities].

Archivos peruanos de cardiologia y cirugia cardiovascular
2022

Experience in the Treatment of Pentalogy of Cantrell with Artificial Materials in a Single Clinical Center.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2022

Pentalogy of Cantrell With a Left Ventricular Diverticulum and Muscular VSD.

The Annals of thoracic surgery
2021

Successful surgical repair of a sternum cleft using composite mesh: A case report and new technical note.

African journal of thoracic and critical care medicine
2021

Pentalogy of Cantrell: Reconstructive Challenges of Two Complete Cases in a Resource-Constrained Setting.

Journal of Indian Association of Pediatric Surgeons
2022

Surgical Management of Total Sternal Cleft in a Pentalogy of Cantrell Neonate.

The Annals of thoracic surgery
2021

The Unusual Journey of a Pericardial Drainage Catheter in Pentalogy of Cantrell.

Case reports in pediatrics
2021

Modified surgical reconstruction technique for a rare isolated congenital sternal cleft: In a six -year-old child.

Annals of medicine and surgery (2012)
2021

Co-occurring non-omphalocele and non-gastroschisis anomalies among cases with congenital omphalocele and gastroschisis.

American journal of medical genetics. Part A
2021

The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins: A case report of a rare congenital anomaly.

Medicine
2021

Rapidly involuting congenital hemangioma of the liver in a newborn with incomplete Pentalogy of Cantrell: description of a new association.

Journal of surgical case reports
2021

Four ectopia cordis cases surgically managed with different strategies.

Turk gogus kalp damar cerrahisi dergisi
2021

Twin pregnancy in which both fetuses have Cantrell's pentalogy: A case report and literature review.

European journal of obstetrics, gynecology, and reproductive biology
2021

Omphalocele-What should we tell the prospective parents?

Prenatal diagnosis
2021

Mortality in neonates with giant omphalocele subjected to a surgical technique in Barranquilla, Colombia from 1994 to 2019.

Scientific reports
2021

Modified sequential sac ligation and staged closure technique for the management of giant omphalocele.

Journal of pediatric surgery
2020

[Electrophysiological changes of the spinal cord during thoracoabdominal aortic clamping -- Experimental study].

Magyar sebeszet
2021

Routine first-trimester ultrasound screening using a standardized anatomical protocol.

American journal of obstetrics and gynecology
2020

Successful balloon valvuloplasty using direct puncture of the heart for pentalogy of Cantrell with complete ectopia cordis, low birth weight, single ventricle and severe pulmonary stenosis.

Cardiology in the young
2020

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

American journal of medical genetics. Part A
2022

Prenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report.

Journal of ultrasound
2020

"Dual pentalogy in a child": A rare anatomy deciphered on CT.

Journal of cardiac surgery
2020

Cantrell syndrome in the first trimester of pregnancy: imagistic findings and literature review.

Medical ultrasonography
2020

Cantrell Syndrome (Thoracoabdominal Ectopia Cordis; Anomalous Umbilical Cord; Diaphragmatic, Pericardial and Intracardiac Defects) in the Pig (Sus scrofa domesticus).

Journal of comparative pathology
2021

Ectopia Cordis: 6-Year Survival without Surgical Correction.

Fetal and pediatric pathology
2020

Diagnosis of fetal defects in twin pregnancies at routine 11-13-week ultrasound examination.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

An Algorithmic Approach to Complex Fetal Abdominal Wall Defects.

AJR. American journal of roentgenology
2020

Outcomes for Ectopia Cordis.

The Journal of pediatrics
2019

Complete and Incomplete Pentalogy of Cantrell.

Children (Basel, Switzerland)
2019

Imaging of Thoracic Wall Abnormalities.

Korean journal of radiology
2019

Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis.

Postepy w kardiologii interwencyjnej = Advances in interventional cardiology
2019

Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

Primary Closure of a Partial Superior Sternal Cleft in a 27-day-old Neonate: Case Report with Short Review of Literature.

Cureus
2020

Norwood Operation of a Neonate With Pentalogy of Cantrell.

The Annals of thoracic surgery
2019

Diaphragmatic eventration unusual presentation: a novel thoracoabdominal compartment syndrome case.

BMJ case reports
2020

Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis.

Fetal and pediatric pathology
2019

Congenital sternal defect repair in an adult cat with incomplete pentalogy of Cantrell.

Journal of the American Veterinary Medical Association
2019

Pentalogy of Cantrell in Full Term Neonate.

AJP reports
2019

Congenital Left Ventricular Diverticulum in Pentalogy of Cantrell: Puzzle Solved With Dual-Source CT.

The Annals of thoracic surgery
2019

Ectopia Cordis Associated with Pentalogy of Cantrell-A Case Report.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2020

"Cantrell's pentalogy"- Angiographic CT evaluation.

Journal of cardiovascular computed tomography
2019

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

Fetal and pediatric pathology
2018

Multidisciplinary approach of assessing malformed fetuses exemplified in a rare case of pentalogy of Cantrell associated with craniorachischisis, pulmonary extrophy and right-sided aortic arch with aberrant brachiocephalic artery.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2019

[Anesthesia for surgical repair of the pentalogy of Cantrell: case report].

Brazilian journal of anesthesiology (Elsevier)
2018

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum.

AJP reports
2018

Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review.

Medicine
2018

Cantrell Syndrome-A Rare Complex Congenital Anomaly: A Case Report and Literature Review.

Frontiers in pediatrics
2018

Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report.

A&amp;A practice
2017

Two cases of Pentalogy of Cantrell diagnosed antenatally at Korle Bu Teaching Hospital, Accra.

Ghana medical journal
2018

Fetal anterior abdominal wall defects: prenatal imaging by magnetic resonance imaging.

Pediatric radiology
2018

Abrogation of TGF-beta signalling in TAGLN expressing cells recapitulates Pentalogy of Cantrell in the mouse.

Scientific reports
2017

FilaminA and Formin2 regulate skeletal, muscular, and intestinal formation through mesenchymal progenitor proliferation.

PloS one
2017

Unrepaired Incomplete Pentalogy of Cantrell in a 3-Year-Old Girl.

World journal for pediatric &amp; congenital heart surgery
2017

Sternal malformations and anesthetic management.

Paediatric anaesthesia
2018

LDT classification and therapeutic strategy of congenital body wall defects.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2017

[Prenatal diagnosis of abdominal wall defects].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2017

Congenital Diaphragmatic Hernia with Liver Herniation into the Pericardial Sac in a 30-Week Gestation Infant.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2017

Severe 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 Society
2017

Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair.

Journal of neonatal surgery
2018

Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: Successful prenatal diagnosis and cesarean delivery.

Congenital anomalies
2017

Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins.

Fetal and pediatric pathology
2018

Primary versus Staged Closure of Exomphalos Major: Cardiac Anomalies Do Not Affect Outcome.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2017

Complete Ectopia Cordis: A Case Report and Literature Review.

Case reports in pediatrics
2017

The outside beating heart: CT diagnosis of Cantrell's pentalogy.

European heart journal. Cardiovascular Imaging
2017

Pentalogy of Cantrell: Is Echocardiography Sufficient in the Neonatal Period?

European journal of pediatric surgery reports
2017

A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature.

Polish journal of radiology
2017

Pericardio-Amniotic Shunting for Incomplete Pentalogy of Cantrell.

Fetal diagnosis and therapy
2017

The Fetus with Ectopia Cordis: Experience and Expectations from Two Centers.

Pediatric cardiology
2016

A Rare Case Report of Thoracic Ectopia Cordis: An Obstetrician's Point of View in Multidisciplinary Approach.

Case reports in pediatrics
2009

Assessment of Pentalogy of Cantrell using 3D Multidetector Computed Tomography.

Radiology case reports
2016

Repair of inferior sternal cleft using a titanium plate in an infant with pentalogy of Cantrell.

Journal of cardiac surgery
2016

Pentalogy of Cantrell: A View From Fetus to Operation With Multimodality Imaging.

World journal for pediatric &amp; congenital heart surgery
2016

Is 1p36 deletion associated with anterior body wall defects?

American journal of medical genetics. Part A
2015

PENTALOGY OF CANTRELL IN TWINS: A CASE REPORT.

Medicinski pregled
2016

Incomplete Pentalogy of Cantrell--A Case Report.

Mymensingh medical journal : MMJ
2016

Bipolar cord coagulation for selective feticide in a monochorionic twin pregnancy complicated by pentalogy of Cantrell.

Taiwanese journal of obstetrics &amp; gynecology
2016

A case of Cantrell syndrome diagnosed in the first trimester.

Clinical and experimental obstetrics &amp; gynecology
2016

Pentalogy of Cantrell with Unilateral Kidney Evisceration: A Case Report and Review of Literature.

Fetal and pediatric pathology
2015

When Closure Fails: What the Radiologist Needs to Know About the Embryology, Anatomy, and Prenatal Imaging of Ventral Body Wall Defects.

Seminars in ultrasound, CT, and MR
2015

A case of pentalogy of Cantrell with double outlet right ventricle.

The Indian journal of medical research
2016

Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

Clinical imaging
2015

Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy.

Case reports in obstetrics and gynecology
2015

CO-OCCURRENCE OF NEURAL TUBE DEFECT, THORACAL DEFECT AND OMPHALOCELE: A RARE CASE AND REVIEW OF THE LITERATURE.

Genetic counseling (Geneva, Switzerland)
2015

A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis.

Turk pediatri arsivi
2015

Pentalogy of Cantrell: Case Report With Review of the Literature.

Advances in neonatal care : official journal of the National Association of Neonatal Nurses
2015

Class II pentalogy of Cantrell.

BMC research notes
2015

Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation.

Clinical and experimental obstetrics &amp; gynecology
2015

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.

American journal of medical genetics. Part A
2015

Pentalogy of Cantrell: a case report.

BJR case reports
2015

[Ectopia cordis - case report].

Ceska gynekologie
2015

Sternal Cleft Associated with Cantrell's Pentalogy in a German Shepherd Dog.

Journal of the American Animal Hospital Association
2015

5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell.

The Journal of surgical research
2014

Pentalogy of Cantrell with Ectopia Cordis: CT Findings.

Journal of radiology case reports
2015

Neo-sternum reconstruction using costal cartilage approximation and small Permacol patch repair in the treatment of Cantrell pentalogy: a case report.

Journal of cardiothoracic surgery
2016

One-stage surgical treatment for Cantrell syndrome without repairing the left ventricular diverticulum: a case report.

Cardiology in the young
2015

Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler.

Case reports in obstetrics and gynecology
2015

Complex abdominal wall defects: appearances at prenatal imaging.

Radiographics : a review publication of the Radiological Society of North America, Inc
2015

Mesenchymal Wnt signaling promotes formation of sternum and thoracic body wall.

Developmental biology
2015

A successful early gore-tex reconstruction of an abdominal wall defect in a neonate with Cantrell pentalogy: a case report and literature review.

Clinical case reports
Ver todos os 195 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Pentalogia de Cantrell

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Doenças relacionadas

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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.

  1. Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.
    Veterinary sciences· 2026· PMID 41745959mais citado
  2. Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.
    Ultrasound (Leeds, England)· 2026· PMID 41767134mais citado
  3. Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.
    JACC. Case reports· 2026· PMID 41665586mais citado
  4. Navigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.
    BMJ case reports· 2025· PMID 40086854mais citado
  5. Giant Aberrant Vascular Structure Extending From the Left Ventricular Apex to the Umbilicus in a Newborn With Cantrell Pentalogy: Management and Transcatheter Closure.
    Circulation. Cardiovascular interventions· 2025· PMID 41140154mais citado
  6. THE COMPLEX ANOMALY OF THORACO-ABDOMINAL ECTOPIA CORDIS IN IBADAN: MAKING A CASE FOR IMPROVED NHIA COVERAGE: A CASE REPORT.
    Ann Ib Postgrad Med· 2025· PMID 41404079recente
  7. Surgical 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 J Pediatr Congenit Heart Surg· 2026· PMID 41204094recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1335(Orphanet)
  2. OMIM OMIM:313850(OMIM)
  3. MONDO:0010742(MONDO)
  4. GARD:7359(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q7165022(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

Pentalogia de Cantrell
Compêndio · Raras BR

Pentalogia de Cantrell

ORPHA:1335 · MONDO:0010742
Prevalência
<1 / 1 000 000
Herança
Not applicable
CID-10
Q89.7 · Malformações congênitas múltiplas, não classificadas em outra parte
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0559483
EuropePMC
Wikidata
Papers 10a
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