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Genetic and clinical profile of neonates with meconium ileus: A case series
Chaitra Angadi1, Pankaj Chaudhary2, Poonam Singh3
1Assistant Professor, Department of Neonatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Abstract:
We present a case series describing the management and genetic findings in five neonates with meconium ileus, presenting within 48 h of birth. Whole-exome sequencing identified cystic fibrosis transmembrane conductance regulator mutations in three neonates, confirming cystic fibrosis, with one heterozygous variant of unknown significance. Two ultimately required surgical intervention after failed conservative management. One died of septic shock.
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