| Johanson-Blizzard syndrome with Diamond-Blackfan anemia. | |
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MedLine Citation:
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PMID: 20810061 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Johanson Blizzard syndrome with classical clinical features, pancreatic insufficiency and Diamond-Blackfan anemia. |
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Authors:
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Muhammad Saeed; Muhammad Nasir Rana; Tahir Masood Ahmad |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP Volume: 20 ISSN: 1022-386X ISO Abbreviation: J Coll Physicians Surg Pak Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-02 Completed Date: 2010-11-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9606447 Medline TA: J Coll Physicians Surg Pak Country: Pakistan |
Other Details:
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Languages: eng Pagination: 627-8 Citation Subset: IM |
Affiliation:
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Department of Neurology, The Children's Hospital, Al Taif, Kingdom of Saudi Arabia. muhammad964@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Anemia, Diamond-Blackfan / complications* Exocrine Pancreatic Insufficiency / complications* Humans Infant Male Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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