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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Unusual variant of Cantrell's pentalogy?
Basant Kumar1, S B Sharma, Deepak K Kandpal
1Department of Pediatric Surgery, Sir Padampat Mother and Child Health Institute (JayKayLon Hospital), SMS Medical College, Jaipur, India. drbkpg75@rediff.com
Abstract:
A 12-hour-old male infant presented with prolapsed abdominal content through a defect on left side of chest wall with respiratory distress. A thorough clinical examination suggested absence of ectopia cordis, abdominal wall defect, and any bony anomaly. The child expired after 6 hours of admission because of respiratory distress and electrolyte imbalance. Is congenital defect of chest wall associated with diaphragmatic hernia without ectopia cordis and omphalocele, an unusual variant of Cantrell's pentalogy?
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