Johanson—Blizzard syndrome
Abstract
The authors give the data available in the literature and their clinical observation of a child with Johanson—Blizzard syndrome, a rare genetic disorder. Particular emphasis is laid on the clinical manifestations of the disease, characterized by multiple malformations, such as congenital exocrine insufficiency and abnormalities of the maxillofacial region and the organs of hearing and vision. A molecular genetic study detected previously undescribed UBR1 gene mutation. The paper describes the differential diagnosis of this syndrome and multicomponent therapy involving clinical nutrition and enzyme therapy during life. A seven-year follow-up revealed positive changes in the child’s general condition.
About the Authors
L. S. Baleva
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
Yu. M. Kagan
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
L. I. Danilycheva
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
S. F. Bluth
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Baleva L.S., Kagan Yu.M., Danilycheva L.I., Bluth S.F. Johanson—Blizzard syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(1):62-65. (In Russ.)
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