title: [Johanson-Blizzard syndrome: the importance of differential diagnostic in pediatrics].
abstract: 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.
authors.affiliation: Disciplina de Hereditariedade Médica, Pontifícia Universidade Católica de São Paulo, Sorocaba, SP. weyvieira@aol.com
authors.forename: Marta W
authors.initials: MW
authors.lastname: Vieira
authors.forename: Vera L G S
authors.initials: VL
authors.lastname: Lopes
authors.forename: Hiromi
authors.initials: H
authors.lastname: Teruya
authors.forename: Leonardo
authors.initials: L
authors.lastname: Guimarães-Lamonato
authors.forename: Lucila C L
authors.initials: LC
authors.lastname: Oliveira
authors.forename: Clóvis Duarte
authors.initials: CD
authors.lastname: Costa