[Johanson-Blizzard syndrome: the importance of differential diagnostic in pediatrics]. / Síndrome de Johanson-Blizzard: importância do diagnóstico diferencial em pediatria.
J Pediatr (Rio J)
; 78(5): 433-6, 2002.
Article
em Pt
| MEDLINE
| ID: mdl-14647752
ABSTRACT
OBJECTIVE:
To promote a clinical entity that could be part of differential diagnosis of most disorders that affect the pediatric age group. DESCRIPTION We describe a Brazilian girl affected by Johanson-Blizzard syndrome and review the literature.COMMENTS:
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Idioma:
Pt
Ano de publicação:
2002
Tipo de documento:
Article