Johanson-blizzarci syndrome with diamond-blackfan anemia
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2010; 20 (9): 627-628
in English
| IMEMR
| ID: emr-97652
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, cafe-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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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Exocrine Pancreatic Insufficiency
/
Syndrome
/
Abnormalities, Multiple
/
Ectodermal Dysplasia
Type of study:
Case report
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
J. Coll. Physicians Surg. Pak.
Year:
2010
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