Abstract
Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. We report a ten years Irannian child with signs and symptoms suggestive of this syndrome (JBS).J Nepal Paediatr Soc 2015;35(3):287-289.
Highlights
Johanson-Blizzard syndrome is a rare gene c disorder that characteris c with mul system involvment par curarly: Ectodermal defects, endocrine disorder, pancrea c insufficiency and other disorders
Further inves ga ons a er and a careful examina on; we found that he has pancrea c insufficiency and sensory neural hearing loss along
Endocrine insufficiency of the pancreas occurs with Johanson–Blizzard syndrome (JBS), though it is some mes less common and less pronounced than the more prominent effects on exocrine func on[1]
Summary
Johanson-Blizzard syndrome is a rare gene c disorder that characteris c with mul system involvment par curarly: Ectodermal defects, endocrine disorder, pancrea c insufficiency and other disorders. Further inves ga ons a er (malabsorp on tests, sweat test, bone age) and a careful examina on; we found that he has pancrea c insufficiency and sensory neural hearing loss along
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