Format

Send to

Choose Destination
See comment in PubMed Commons below
J Coll Physicians Surg Pak. 2010 Sep;20(9):627-8. doi: 09.2010/JCPSP.556557.

Johanson-Blizzard syndrome with Diamond-Blackfan anemia.

Author information

1
Department of Neurology, The Children's Hospital, Al Taif, Kingdom of Saudi Arabia. muhammad964@hotmail.com

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.

PMID:
20810061
DOI:
09.2010/JCPSP.556557
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center