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A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome
Zeynep Civelek1, Nafiye Urganci2, Merve Usta2
1Department of Pediatrics, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.
Abstract:
Johanson-Blizzard Syndrome (JBS) was first described by Johanson and Blizzard. It exhibits autosomal recessive inheritance and is characterized by mutation in the UBR1 gene on the long arm of Chromosome 15. The phenotypic features as well as diarrhoea that occurs due to the exocrine pancreatic insufficiency constitute the main clinical symptoms. This article discusses Johanson-Blizzard Syndrome due to the case followed-up by us with the symptoms of deafness and diarrhoea as well as typical facial appearance.
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