First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome

Abstract

MRS/MFS is a rare genetic disorder with autosomal recessive inheritance. 1,2 MFS is characterized by the triad of pancreatic hypoplasia, intestinal atresia, and extrahepatic biliary hypoplasia, with or without tracheoesophageal fistula. 3 Patients who present the clinical triad of MFS, as well as neonatal diabetes, and an RFX6 gene mutation, are diagnosed with MRS. 4 The mutations of the RFX6 gene have