Martinez-Frias Syndrome

Martinez-Frias syndrome (MFS) is a complex congenital disorder that involves intestinal atresia, pancreatic hypoplasia, biliary atresia, intrauterine growth retardation (IUGR), and hypospadias and is sometimes associated with tracheoesophageal fistula. It was first described in 1992 by Martinez-Frias et al. (1992). MFS usually manifests during the fetal or neonatal period (Estefanía-Fernández et al. 2022). Data on prevalence and incidence are scarce. This syndrome has an autosomal recessive inheritance pattern (Mora et al. 2014). Regulatory factor X 6 (RFX6) mutations have been detected in MFS. Prenatal diagnosis is challenging due to MFS clinical variability. Genetic counseling is essential if there is a family history of MFS (Estefanía-Fernández et al. 2022). Clinical manifestations are used to determine the diagnosis (Mora et al. 2014). Histopathological examinations may reveal biliary atresia or heterotopic gastric mucosa (HGM) in the small intestine (Savran et al. 2013). Affected individuals may benefit from oral pancreatic enzymes, loperamide, and dietary modifications. Deferoxamine is advantageous for patients with cholestasis. The laparoscopic or surgical correction of intestinal obstruction, duodenal, jejunal, and gallbladder atresia can be performed. Nonetheless, many patients with MFS die within the first year of their lives (Estefanía-Fernández et al. 2022).