Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. café-aulait spots. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Indian Journal of Pediatrics Springer Journals

Loading next page...
 
/lp/springer-journals/johanson-blizzard-syndrome-QEAG8TJKax

References (15)

Publisher
Springer Journals
Copyright
Copyright © 2004 by Dr. K C Chaudhuri Foundation
Subject
Medicine & Public Health; Pediatrics; Gynecology
ISSN
0019-5456
eISSN
0973-7693
DOI
10.1007/BF02829829
Publisher site
See Article on Publisher Site

Abstract

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. café-aulait spots.

Journal

Indian Journal of PediatricsSpringer Journals

Published: Dec 1, 2004

There are no references for this article.