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Jornal de Pediatria
On-line version ISSN 1678-4782
VIEIRA, Marta W. et al. Johanson-Blizzard syndrome: the importance of differential diagnostic in pediatrics. J. Pediatr. (Rio J.) [online]. 2002, vol.78, n.5, pp.433-436. ISSN 1678-4782. http://dx.doi.org/10.1590/S0021-75572002000500016.
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.
Keywords : abnormalities; craniofacial abnormalities; pancreatic insufficiency.