Results 91 to 100 of about 1,847 (223)
Pentalogy of Cantrell with ectopia cordis: A rare case with review of literature
Indian Journal of Medical Sciences, 2021 Pentalogy of Cantrell (PC) is a rare congenital syndrome comprising five characteristic abnormalities that include midline anterior abdominal wall defect, sternal defect, diaphragmatic defect, defect in apical pericardium, and structural heart defect ...
Soma Mukherjee +3 more
semanticscholar +1 more source
Retrospective Study of Clinical and Genetic Profiles of Alpha‐Mannosidosis Patients From the UAE
JIMD Reports, Volume 66, Issue 2, March 2025.ABSTRACT Alpha‐mannosidosis (AM; OMIM 248500) is a rare autosomal recessive lysosomal storage disorder caused by mutations in MAN2B1, which codes for the lysosomal alpha‐mannosidase enzyme (LAMAN; EC:3.2.1.24). Clinical characteristics include developmental delay, hearing impairment, and recurrent infections.
Ali K. Saad +6 more
wiley +1 more source
Untreated patient of Pentalogy of Cantrell surviving into the sixth decade: A unique case report
IHJ Cardiovascular Case Reports, 2018 Pentalogy of Cantrell is a rare syndrome consisting of a constellation of congenital anomalies including omphalocoele, lower sternal defect, sdiaphragmatic defect, diaphragmatic pericardial defect and congenital heart disease.
Neha Nischal +3 more
doaj +1 more source
Ectopia Cordis: A Case Report [PDF]
International Journal of Anatomy Radiology and Surgery, 2016 Pentalogy of Cantrell is a rare a congenital syndrome which includes ectopia cordis, sternal, pericardial, abdominal wall defects (usually omphalocele), diaphragmatic defects and intracardiac abnormalities. We report a case with a rare combination of
Muhammad Abdullah, R. Ramesh Kumar
doaj +1 more source
Complete pentalogy of Cantrell associated with exencephaly: a rare case report [PDF]
, 2017 Complete pentalogy of Cantrell (PC) is a rare condition with an incidence of 1 in 100000 pregnancies. The spectrum includes defects in the diaphragm, anterior abdominal wall, diaphragmatic pericardium, lower sternum and congenital cardiac anomalies.
Ekanath, Latha, Rajasekaran, Anandraj
core +1 more source
Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology
Developmental Dynamics, Volume 254, Issue 2, Page 102-141, February 2025.Abstract The ventral body wall (VBW) that encloses the thoracic and abdominal cavities arises by extensive cell movements and morphogenetic changes during embryonic development. These morphogenetic processes include embryonic folding generating the primary body wall; the initial ventral cover of the embryo, followed by directed mesodermal cell ...
Caroline Formstone +3 more
wiley +1 more source
Pentalogy of Cantrell and anaesthesia: a case report [PDF]
, 2018 Pentalogy of Cantrell, a rare congenital thoracoabdominal disruption, consists of a supraumbilical abdominal wall defect, lower sternal defect, agenesis of the anterior portion of the diaphragm, an absence of the diaphragmatic part of the pericardium ...
Oosthuizen, Alexis
core +1 more source
Pentology of Cantrell: a rare case report with review of literature [PDF]
, 2018 Pentology of Cantrell a rare congenital disorder of unknown etiology consists of pentad of: defect in the diaphragm, abdominal wall defect, deficiency of the pericardium and intracardiac defects.
Jamkhandi, Supriya, Tile, Rajesh
core +2 more sources
PENTALOGY OF CANTRELL, AN EXTREMELY RARE MALFORMATION:A CASE REPPORT
International Journal of Advanced Research, 2022 Pentalogy of Cantrell (PC) is an extremely rare and usually fatal birth defect. It corresponds to a defect in the closure of the umbilical ring concerning the supra-umbilical portion of the abdominal wall secondary to an anomaly in the development of the
A. Oubid +5 more
semanticscholar +1 more source
Clinical and Surgical Perspectives on Isolated Thoracic Ectopia Cordis: A Rare Case Report
Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.Ectopia cordis is an exceptionally uncommon congenital condition where the heart develops outside its normal position due to incomplete closure of the ventral chest wall during embryogenesis. The anomaly may occur in isolation or with other structural defects, often resulting in a poor prognosis despite advancements in medical and surgical care.
Syed Mohsin Raza Bukhari +9 more
wiley +1 more source