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GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis associated with neonatal diabetes and hepatobiliary abnormalities. Whole exome sequencing identified a de novo, heterozygous mu

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Prevalence of pelvic ectopic kidney with obstruction is not common. Associated anomalies may produce technical difficulties and surgical challenges in treatment. Diagnostic tools such as USG KUB, renal scintigraphic studies (DMSA, DTPA), MRI, and preoperative RGP are very informative examinations to properly decide the timing of the operation and method of it. The patient was under close surveillance from the detection of antenatal hydronephrosis until the development of UPJ obstruction. Herein, we report the case of a patient with th