A case with complete pancreatic aplasia suggestive of Johanson-Blizzard syndrome

Jafari, S. A. and Moghaddar, R. and Bahadoram, M. and Kianifar, H. R. and Tosi, M. B. (2016) A case with complete pancreatic aplasia suggestive of Johanson-Blizzard syndrome. Journal of Clinical and Diagnostic Research, 10 (8). SD01-SD03.

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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. © 2016, Journal of Clinical and Diagnostic Research. All rights reserved.

Item Type: Article
Additional Information: Export Date: 16 February 2020 Correspondence Address: Bahadoram, M.; Medical Student Research Committee, Ahvaz Jundishapur University of Medical SciencesIran; email: mohammadbahadoram@yahoo.com
Uncontrolled Keywords: Cyclophpsphamide Hemorrhagic cystitis Treatment cyclophosphamide aplasia Article autosomal recessive disorder case report computer assisted tomography diarrhea enzyme replacement gastroenteritis hair growth hospitalization human human tissue infant johanson blizzard Syndrome kidney calcification knowledge malabsorption male pancreas disease pancreas insufficiency perception deafness prevalence
Subjects: WK Endocrine System
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib4 lib4
Date Deposited: 02 Mar 2020 05:01
Last Modified: 02 Mar 2020 05:01
URI: http://eprints.mums.ac.ir/id/eprint/13049

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