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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2021
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| Summary: | <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> |
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