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.
abnormalities; craniofacial abnormalities; pancreatic insufficiency
