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Pentalogy of Cantrell : ウィキペディア英語版 | Pentalogy of Cantrell
Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. It was characterized in 1958. A locus at Xq25-26 has been described. ==Presentation== The syndrome has five characteristic findings: * Omphalocele * Anterior diaphragmatic hernia * Sternal cleft * Ectopia cordis * Intracardiac defect: either a ventricular septal defect or a diverticulum of the left ventricle.
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