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.

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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

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