A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome.
J Clin Diagn Res
; 10(8): SD01-3, 2016 Aug.
Article
en En
| MEDLINE
| ID: mdl-27656521
ABSTRACT
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 our knowledge, no case with this syndrome has presented with complete pancreatic aplasia in the literature.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
J Clin Diagn Res
Año:
2016
Tipo del documento:
Article
País de afiliación:
Irán