• Case of progressive ossifying heteroplasia (POH) in childat the age of 1 year and 3 months
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Case of progressive ossifying heteroplasia (POH) in childat the age of 1 year and 3 months

SOVREMENNAYA PEDIATRIYA.2014.1(57):44-47; doi 10.15574/SP.2014.57.44 

Case of progressive ossifying heteroplasia (POH) in childat the age of 1 year and 3 months 

Berezhnoi V. V., Kozhara Yu. A., Mihnusheva O. S., Streltsova S. V., Egorova L. N.

P.L. Shupik National Academy of Postgraduate Education, Kiev, Ukraine

Kyiv City Clinical Hospital № 1 

By the clinical example the objective difficulties of differential diagnosis of major, space-occupying of soft tissue in childhood are shown. The final diagnosis was based on the results of early examination of the child in the Centogene laboratory (Germany), which confirmed the presence of GNAS1-gene mutations. Treatment of progressive ossifying heteroplasia extremely problematic. At the present stage the main task of the treatment is to correct hormonal disorders and preservation of affected joint function. In the future, it will be most likely to develop and approbate (in the experiment in animals too) of preparations with the ability to block GNAS1-gene mutations that will allow to prevent or interrupt heterogeneous ossification and improve the condition of patients. 

Key words: gene associated pathology, progressive ossifying heteroplasia, differential diagnosis. 

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