Johanson-Blizzard Syndrome with Short Stature

Authors

  • Enayatollah Nemat Khorasani Associate Professor, Paediatric Gastrologist, Baghiyatallah University Medical of Sciences, Tehran,
  • Fariba Mansouri Associate Professor, Pulmonologist, Tehran University Medical of Sciences, Tehran

DOI:

https://doi.org/10.3126/jnps.v35i3.13109

Keywords:

Johanson-Blizzard, short stature, pancreas insufficiency, Hypotyroidism

Abstract

Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. We report a ten years Irannian child with signs and symptoms suggestive of this syndrome (JBS).

J Nepal Paediatr Soc 2015;35(3):287-289.

Downloads

Download data is not yet available.
Abstract
926
PDF
680

Downloads

Additional Files

Published

2016-06-02

How to Cite

Khorasani, E. N., & Mansouri, F. (2016). Johanson-Blizzard Syndrome with Short Stature. Journal of Nepal Paediatric Society, 35(3), 287–289. https://doi.org/10.3126/jnps.v35i3.13109

Issue

Vol. 35 No. 3 (2015)

Section

Brief Reports/Case Reports/Case Series

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).