Literature DB >> 27656521

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

Seyed Ali Jafari1, Roozbeh Moghaddar2, Mohammad Bahadoram3, Hamid Reza Kianifar1, Mehran Beiraghi Tosi1.   

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.

Entities:  

Keywords:  Cyclophpsphamide; Hemorrhagic cystitis; Treatment

Year:  2016        PMID： 27656521      PMCID： PMC5028432          DOI： 10.7860/JCDR/2016/17692.8307

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN： 0973-709X


  8 in total

1.  Johanson-Blizzard syndrome.

Authors:  Nabeel Almashraki; Mukarram Zainuddin Abdulnabee; Maja Sukalo; Abdullah Alrajoudi; Iman Sharafadeen; Martin Zenker
Journal:  World J Gastroenterol       Date:  2011-10-07       Impact factor: 5.742

Review 2.  Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.

Authors:  Martin Zenker; Julia Mayerle; André Reis; Markus M Lerch
Journal:  Endocrinol Metab Clin North Am       Date:  2006-06       Impact factor: 4.741

Review 3.  [Report of a case with Johanson-Blizzard syndrome and literatures review].

Authors:  Zhi-Feng Liu; Zhi-Hua Zhang; Mei Li; Yu Jin; Min Lian; Wen-Wei Tang
Journal:  Zhonghua Er Ke Za Zhi       Date:  2011-01

4.  Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.

Authors:  W J Steinbach; R L Hintz
Journal:  J Pediatr Endocrinol Metab       Date:  2000 Nov-Dec       Impact factor: 1.634

Review 5.  Eponym: Johanson-Blizzard syndrome.

Authors:  Nima Rezaei; Mozhgan Sabbaghian; Zhifeng Liu; Martin Zenker
Journal:  Eur J Pediatr       Date:  2010-06-17       Impact factor: 3.183

6.  Johanson-blizzard syndrome.

Authors:  Koumudi Godbole; Sukalo Maja; Hiremath Leena; Zenker Martin
Journal:  Indian Pediatr       Date:  2013-05-08       Impact factor: 1.411

Review 7.  Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Authors:  Maja Sukalo; Ariane Fiedler; Celina Guzmán; Stephanie Spranger; Marie-Claude Addor; Jiad N McHeik; Manuel Oltra Benavent; Jan M Cobben; Lynette A Gillis; Amy G Shealy; Charu Deshpande; Bita Bozorgmehr; David B Everman; Eva-Lena Stattin; Jan Liebelt; Klaus-Michael Keller; Débora Romeo Bertola; Clara D M van Karnebeek; Carsten Bergmann; Zhifeng Liu; Gesche Düker; Nima Rezaei; Fowzan S Alkuraya; Gönül Oğur; Abdullah Alrajoudi; Carlos A Venegas-Vega; Nienke E Verbeek; Erick J Richmond; Ozgür Kirbiyik; Prajnya Ranganath; Ankur Singh; Koumudi Godbole; Fouad A M Ali; Crésio Alves; Julia Mayerle; Markus M Lerch; Heiko Witt; Martin Zenker
Journal:  Hum Mutat       Date:  2014-04-09       Impact factor: 4.878

8.  Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.

Authors:  Kate M Ellery; Steven H Erdman
Journal:  JOP       Date:  2014-07-28
  8 in total
  1 in total

1.  Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.

Authors:  Aiza Fatima Raza; Dilli Raj Paudel; Kavassery Venkateswaran Nisha
Journal:  J Audiol Otol       Date:  2021-11-16
  1 in total

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