Journal of Gastrointestinal & Digestive System
Open Access

Abstract

Martinez-Frias Syndrome (MFS), which is characterized by duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, intrauterine growth retardation (IUGR) with or without tracheoesophageal fistula, has been firstly described in 1992 by Martinez and Frias and it is a very rare condition with autosomal recessive inheritance. Some other abnormalities such as esophageal atresia, rectoanal atresia, cardiac disorders and hipospadias can also be encountered in patients with MFS, but these findings may not be necessarily found. MFS has been reported five times in the literature and the total number of reported cases is nine so far, with none alive today. For this patient, the most important thing is that she is the first and still living patient of MFS among the previously reported cases.

Biography

Email: bircansavran@gmail.com