Publication: Johanson-Blizzard Syndrome with Short Stature
Date
2015
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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).
Description
Enayatollah Nemat Khorasani
Associate Professor, Paediatric Gastrologist, Baghiyatallah University Medical of Sciences, Tehran,
Fariba Mansouri
Associate Professor, Pulmonologist, Tehran University Medical of Sciences, Tehran
Keywords
Johanson-Blizzard, short stature, pancreas insufficiency, Hypotyroidism