[Johanson-Blizzard syndrome: the importance of differential diagnostic in pediatrics].
OBJECTIVE
To promote a clinical entity that could be part of differential diagnosis of most disorders that affect the pediatric age group.


METHODS
We describe a Brazilian girl affected by Johanson-Blizzard syndrome and review the literature.


CONCLUSIONS
Johanson-Blizzard syndrome is an autosomal recessive condition characterized by hypoplastic alae nasi, scalp defect, deafness and pancreatic insufficiency with malabsorption. Looking at the major signs, this disorder should be considered as differential diagnosis in several pediatric diseases.
Vieira
Marta W
MW
Disciplina de Hereditariedade Médica, Pontifícia Universidade Católica de São Paulo, Sorocaba, SP. weyvieira@aol.com
Lopes
Vera L G S
VL
Teruya
Hiromi
H
Guimarães-Lamonato
Leonardo
L
Oliveira
Lucila C L
LC
Costa
Clóvis Duarte
CD