Johanson-Blizzard syndrome with Diamond-Blackfan anemia.

Abstract

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.

• Authors: Muhammad Saeed, Muhammad Nasir Rana, Tahir Masood Ahmad
• Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP (J Coll Physicians Surg Pak) Vol. 20 Issue 9 Pg. 627-8 (Sep 2010) ISSN: 1022-386X [Print] Pakistan
• PMID: 20810061 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple
• Anemia, Diamond-Blackfan (complications)
• Exocrine Pancreatic Insufficiency (complications)
• Humans
• Infant
• Male
• Syndrome