Johanson-Blizzard Syndrome with Short Stature

Khorasani, Enayatollah Nemat; Mansouri, Fariba

Publication:
Johanson-Blizzard Syndrome with Short Stature

creativeworkseries.issn	ISSN 1990-7974 eISSN 1990-7982
dc.contributor.author	Khorasani, Enayatollah Nemat
dc.contributor.author	Mansouri, Fariba
dc.date.accessioned	2026-03-17T10:48:35Z
dc.date.available	2026-03-17T10:48:35Z
dc.date.issued	2015
dc.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
dc.description.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).
dc.identifier	https://doi.org/10.3126/jnps.v35i3.13109
dc.identifier.uri	https://hdl.handle.net/20.500.14572/5204
dc.language.iso	en_US
dc.publisher	Nepal Paediatric Society (JNPS)
dc.subject	Johanson-Blizzard
dc.subject	short stature
dc.subject	pancreas insufficiency
dc.subject	Hypotyroidism
dc.title	Johanson-Blizzard Syndrome with Short Stature
dc.type	Article
dspace.entity.type	Publication
local.article.type	Case Report
oaire.citation.endPage	289
oaire.citation.startPage	287
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