The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins

<h3>Rationale</h3><p dir="ltr">Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior di...

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Main Author: Zlatan Zvizdic (9212371) (author)
Other Authors: Irmina Sefic-Pasic (17563257) (author), Amira Mesic (16515279) (author), Sabina Terzic (20402234) (author), Semir Vranic (3353012) (author)
Published: 2021
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_version_ 1864513553642291200
author Zlatan Zvizdic (9212371)
author2 Irmina Sefic-Pasic (17563257)
Amira Mesic (16515279)
Sabina Terzic (20402234)
Semir Vranic (3353012)
author2_role author
author
author
author
author_facet Zlatan Zvizdic (9212371)
Irmina Sefic-Pasic (17563257)
Amira Mesic (16515279)
Sabina Terzic (20402234)
Semir Vranic (3353012)
author_role author
dc.creator.none.fl_str_mv Zlatan Zvizdic (9212371)
Irmina Sefic-Pasic (17563257)
Amira Mesic (16515279)
Sabina Terzic (20402234)
Semir Vranic (3353012)
dc.date.none.fl_str_mv 2021-04-09T03:00:00Z
dc.identifier.none.fl_str_mv 10.1097/md.0000000000025470
dc.relation.none.fl_str_mv https://figshare.com/articles/journal_contribution/The_complete_spectrum_of_pentalogy_of_Cantrell_in_one_of_a_set_of_dizygotic_twins/27991595
dc.rights.none.fl_str_mv CC BY 4.0
info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv Biological sciences
Genetics
Biomedical and clinical sciences
Pharmacology and pharmaceutical sciences
congenital anomalies
diagnosis
pentalogy of Cantrell
treatment
twins
dc.title.none.fl_str_mv The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
dc.type.none.fl_str_mv Text
Journal contribution
info:eu-repo/semantics/publishedVersion
text
contribution to journal
description <h3>Rationale</h3><p dir="ltr">Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior diaphragm, diaphragmatic pericardium, and various intracardiac defects.</p><h3>Patient concerns</h3><p dir="ltr">We report a case of complete POC affecting only the first-born of a set of premature dizygotic twins.</p><h3>Diagnosis</h3><p dir="ltr">A giant omphalocele with an eviscerated liver and bowel on prenatal, obstetric ultrasonography at 24 gestational weeks was observed. At birth, physical examination confirmed a massive (10 × 8 cm) epigastric omphalocele in which a significant part of the liver was seen. A postnatal echocardiogram revealed the presence of an ostium secundum atrial septal defect, perimembranous ventricular septal defect, and moderate pulmonary stenosis. X-ray showed an abnormal intrathoracic positioned stomach, which was confirmed with a plain x-ray of the upper intestinal tract with hydrosoluble contrast. Computed tomography (CT) scan revealed the sternum's absence and a close connection between the pericardial sac and the stomach wall.</p><h3>Interventions</h3><p dir="ltr">The patient underwent surgical intervention at 18 days of age.</p><h3>Outcomes</h3><p dir="ltr">Despite adequate and appropriate postoperative treatment, the baby rapidly deteriorated and died 72 hours after surgery.</p><h3>Lessons</h3><p dir="ltr">POC is a complex, high-mortality syndrome whose management requires a multidisciplinary approach and meticulous planning. Despite all efforts, POC carries a poor prognosis, particularly in patients affected by its complete form.</p><h2>Other Information</h2><p dir="ltr">Published in: Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0" target="_blank">http://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1097/md.0000000000025470" target="_blank">https://dx.doi.org/10.1097/md.0000000000025470</a></p>
eu_rights_str_mv openAccess
id Manara2_131e80c74a7080e5df2649e2558e7a09
identifier_str_mv 10.1097/md.0000000000025470
network_acronym_str Manara2
network_name_str Manara2
oai_identifier_str oai:figshare.com:article/27991595
publishDate 2021
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rights_invalid_str_mv CC BY 4.0
spelling The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twinsZlatan Zvizdic (9212371)Irmina Sefic-Pasic (17563257)Amira Mesic (16515279)Sabina Terzic (20402234)Semir Vranic (3353012)Biological sciencesGeneticsBiomedical and clinical sciencesPharmacology and pharmaceutical sciencescongenital anomaliesdiagnosispentalogy of Cantrelltreatmenttwins<h3>Rationale</h3><p dir="ltr">Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior diaphragm, diaphragmatic pericardium, and various intracardiac defects.</p><h3>Patient concerns</h3><p dir="ltr">We report a case of complete POC affecting only the first-born of a set of premature dizygotic twins.</p><h3>Diagnosis</h3><p dir="ltr">A giant omphalocele with an eviscerated liver and bowel on prenatal, obstetric ultrasonography at 24 gestational weeks was observed. At birth, physical examination confirmed a massive (10 × 8 cm) epigastric omphalocele in which a significant part of the liver was seen. A postnatal echocardiogram revealed the presence of an ostium secundum atrial septal defect, perimembranous ventricular septal defect, and moderate pulmonary stenosis. X-ray showed an abnormal intrathoracic positioned stomach, which was confirmed with a plain x-ray of the upper intestinal tract with hydrosoluble contrast. Computed tomography (CT) scan revealed the sternum's absence and a close connection between the pericardial sac and the stomach wall.</p><h3>Interventions</h3><p dir="ltr">The patient underwent surgical intervention at 18 days of age.</p><h3>Outcomes</h3><p dir="ltr">Despite adequate and appropriate postoperative treatment, the baby rapidly deteriorated and died 72 hours after surgery.</p><h3>Lessons</h3><p dir="ltr">POC is a complex, high-mortality syndrome whose management requires a multidisciplinary approach and meticulous planning. Despite all efforts, POC carries a poor prognosis, particularly in patients affected by its complete form.</p><h2>Other Information</h2><p dir="ltr">Published in: Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0" target="_blank">http://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1097/md.0000000000025470" target="_blank">https://dx.doi.org/10.1097/md.0000000000025470</a></p>2021-04-09T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1097/md.0000000000025470https://figshare.com/articles/journal_contribution/The_complete_spectrum_of_pentalogy_of_Cantrell_in_one_of_a_set_of_dizygotic_twins/27991595CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/279915952021-04-09T03:00:00Z
spellingShingle The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
Zlatan Zvizdic (9212371)
Biological sciences
Genetics
Biomedical and clinical sciences
Pharmacology and pharmaceutical sciences
congenital anomalies
diagnosis
pentalogy of Cantrell
treatment
twins
status_str publishedVersion
title The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
title_full The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
title_fullStr The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
title_full_unstemmed The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
title_short The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
title_sort The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins
topic Biological sciences
Genetics
Biomedical and clinical sciences
Pharmacology and pharmaceutical sciences
congenital anomalies
diagnosis
pentalogy of Cantrell
treatment
twins