Thrombocytopenia, familial amegakaryocytes with radius aplasiaQ87.2

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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DefinitionThis section has been translated automatically.

Autosomal-recessive inherited thrombocytopenia and thrombocyte dysfunction with petechial haemorrhages and ecchymoses in the skin and internal organs as well as bilateral radius aplasia and possibly ulnar and humerus aplasia. Associations with further malformations are possible.

TherapyThis section has been translated automatically.

Platelet infusions.

Progression/forecastThis section has been translated automatically.

Unfavorable in the 1st year of life. Risk of bleeding. Platelet count may rise after survival of the first year.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer