Johanson-Blizzard Syndrome: A Rare Case Report

Several of the anatomic malformations are difficult to diagnose. A group of population has characteristic anatomic changes but even in this group the diagnosis may not be considered, if one or more of the major features are present. The Johanson-Blizzard syndrome has distinctive craniofacial changes that should be easily recognized. It is an autosomal recessive condition characterized by typical facies, exocrine pancreatic insufficiency, hypothyroidism and group of other features like oligodontia, growth retardation, bilateral hearing loss and midline scalp defects. A 9-year-old boy with Johanson-Blizzard syndrome is described in this article along with oral manifestation and less emphasized feature café-au-lait spots.