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Cantrell's pentalogy is a rare syndrome associated with a midline embryological defect involving a series of malformations: anomalies of the lower sternum, anterior diaphragm, heart, and anterior abdominal wall. It can be classified as complete, probable or partial, but the most important thing is to describe and understand the anomalies involved. We describe a case of a late diagnosis of Cantrell's pentalogy at 35 weeks and 5 days of pregnancy in a woman from the interior of Pará state, an Amazon Brazilian region.
View Article and Find Full Text PDFDe Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus.
J Vet Intern Med
June 2025
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Background: Cleft palate (CP) is a congenital defect characterized by an opening in the palate. Two crossbred paternal half-sibs with a complex syndrome including CP were identified.
Hypothesis/objectives: Characterize disease phenotype and evaluate the genetic cause of the observed syndrome.
We report the case of a 45-year-old woman with pentalogy of Fallot, a severe and complicated cyanotic congenital heart disease. Congenital anomalies of pentalogy of Fallot include ventricular septal defect, right ventricular hypertrophy, saddle aorta, pulmonary ostium stenosis, atrial septal defect, and patent foramen ovale. Pentalogy of Fallot is less common than triplet and tetralogy of Fallot and can affect children's physical development.
View Article and Find Full Text PDFAnesthesia for Pentalogy of Cantrell with Surgical Repair of Tetralogy of Fallot Along with Absent Diaphragm: A Case Study.
Ann Card Anaesth
April 2025
Department of Cardiac Anesthesiology, Fortis Hospital Mohali, Punjab, India.
Pentalogy of Cantrell compiles the union of five anomalies including defects of the midline abdominal wall, lower sternum, anterior diaphragm, diaphragmatic pericardium, and any form of intra-cardiac pathology 1. The intra-cardiac defects associated commonly are ventricular septal defects, followed by atrial septal defects, Tetralogy of Fallot, and pulmonary stenosis 2. It is also a rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births.
View Article and Find Full Text PDFThe pentalogy of Fallot stands out as one of the rarest and most complex congenital heart defects. Pulmonary artery stenosis, a ventricular septal defect, an overriding aorta, right ventricular hypertrophy, and atrial septal communication characterize it. Due to its complexity and associated malformations, advanced imaging methods, such as cardiac CT angiography, have become essential for proper characterization.
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