[The Johanson-Blizzard syndrome]

A 17 year and 10 month old boy with Johanson-Blizzard syndrome is presented as a case report for the first time. Diagnosis has been established on the basis of craniofacial abnormalities: microcephalia, parietal skin and bone defects, sparse hair with frontal up sweep, alae nasi hypoplasia, irregular dentition and nasolacrimal fistula, with mental insufficiency, partial exocrine pancreatic insufficiency and low birth-weight and length, hypotonia and failure to thrive in infancy. Congenital cataract and hiatus sacralis apertus are additional signs that have never been described in the literature concerning Johanson-Blizzard syndrome.