Cases reported "Abnormalities, Multiple"

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1/35. First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly.

    We report a case of Cantrell's pentalogy with exencephaly detected by sonography at 11 weeks 4 days' menstrual age and confirmed at autopsy. Cantrell's pentalogy consists of defects of the lower sternum, anterior diaphragm, midline supraumbilical abdominal wall, and diaphragmatic pericardium with ectopia cordis. Exencephaly involves acrania with a disorganized mass of brain tissue. Both conditions are rare; the combination of the 2 has been reported only twice before. To our knowledge, this is the earliest reported diagnosis of the 2 conditions by prenatal sonography.
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keywords = pentalogy
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2/35. MR imaging of pentalogy of cantrell variant with an intact diaphragm and pericardium.

    We present a case of a neonate with the stigmata for pentalogy of cantrell with the exception of diaphragmatic and pericardial defects. Diagnosing most of the anomalies in this rare syndrome can be accomplished using conventional modalities in radiology, but difficulties may arise determining diaphragmatic continuity. Accurate, early diagnosis of components of this syndrome is vital for surgical planning and assessing prognostic factors.
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ranking = 0.83333333333333
keywords = pentalogy
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3/35. Congenital diaphragmatic hernia associated with a gastroesophageal duplication cyst: a case report.

    Severe left congenital diaphragmatic hernia was diagnosed in a baby prenatally, and she underwent hernia repair on the sixth postnatal day of life. She was found to have a huge symptomatic gastroesophageal duplication cyst on day 24 of life. A thoracoabdominal dissection allowed successful cyst excision. J Pediatr Surg 36:626-628.
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ranking = 0.00036289392454151
keywords = thoracoabdominal
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4/35. Mixed foregut cyst associated with esophageal atresia.

    The authors report an unusual case of a thoracoabdominal foregut malformation with components of bronchogenic, esophageal duplication, and pancreatic enterogenous cysts, that presented in a child with esophageal atresia. J Pediatr Surg 36:939-940.
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ranking = 0.00036289392454151
keywords = thoracoabdominal
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5/35. Unusual cardiac malformations in conjoined twins: thoracopagus twins with conjoined pentalogy of cantrell and an omphalopagus twin with atretic ventricles.

    Two unrelated cases of conjoined twins were found to have cardiac malformations that apparently have not been reported previously. In one case, thoracopagus twins had an extensive thoracoabdominal wall defect that resulted in ectopia cordis of a conjoined heart along with evisceration of the shared liver and intestine along with one spleen. These malformations, accompanied by defects in the sternum, diaphragm, and supraumbilical abdominal wall, constitute a conjoined pentalogy of cantrell. In the second case, the heart of one of omphalopagus twins consisted of a solid ventricular mass with only a minute aortic cavity but no atrioventricular communication-an ineffective heart that could develop only in a conjoined or chorioangiopagus twin. In both cases, a common atrium lay in the primitive (embryologic) position caudal to the ventricles.
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ranking = 0.83369622725787
keywords = pentalogy, thoracoabdominal
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6/35. Combined pentalogy of cantrell with tetralogy of fallot, gallbladder agenesis, and polysplenia: a case report.

    A male newborn with pentalogy of cantrell, tetralogy of fallot, agenesis of the gallbladder, and polysplenia died at 3 days of age. Polysplenia was not previously reported in this association.
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ranking = 0.83333333333333
keywords = pentalogy
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7/35. prenatal diagnosis of Cantrell's pentalogy: a case report.

    A 23 year-old nulliparous woman was admitted to the obstetrics clinic in the 12th week of her pregnancy. Following the first trimester scanning, the fetus was diagnosed as having a large omphalocele and ectopia cordis. It was thought to be a thoracoabdominal wall defect and a possible case of Cantrell's pentalogy. amniocentesis was performed and at the 16th week, the pregnancy was terminated because of karyotype revealing trisomy 21 and the serious structural defects. autopsy demonstrated an ectopia cordis without pericardium and an abdominal wall defect with an omphalocele. fetus had no diaphragma or sternum, and pulmonary and extremity anomalies were also present. With these findings, this case is suggested to be a variant of Cantrell's pentalogy.
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ranking = 1.0003628939245
keywords = pentalogy, thoracoabdominal
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8/35. Thoracoabdominal ectopia cordis with mosaic Turner's syndrome: Report of a case.

    A child was treated for thoracoabdominal ectopia cordis and an associated chromosomal defect. Contrary to most cases in which death is due to the externally situated heart and abdominal viscera, this patient died from congenital heart disease.
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ranking = 0.00036289392454151
keywords = thoracoabdominal
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9/35. An infant with pentalogy of cantrell and limb defects diagnosed prenatally.

    We present a case of pentalogy of cantrell which was diagnosed prenatally on routine ultrasound examination. There were several associated limb defects. We discuss the differential diagnosis and conclude that our case probably had a variant form of this syndrome.
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ranking = 0.83333333333333
keywords = pentalogy
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10/35. prenatal diagnosis of pentalogy of cantrell: a case report.

    pentalogy of cantrell is a very rare congenital disorder characterized by ectopia cordis in combination with an abdominal wall defect. A case diagnosed prenatally at 25 weeks' gestational age is presented.
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ranking = 0.66666666666667
keywords = pentalogy
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