Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences , Mashhad, Iran .

A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome.

Published in JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH

Johanson-Blizzard Syndrome (JBS) is a very rare autosomal recessive multisystem disorder. We report the case of a two-month-old male with pancreatic insufficiency and severe phenotypic features. His diagnosis of JBS was established using clinical symptoms and abdominal computed tomography scan that showed pancreas aplasia. According to the best of ...