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Вроджений псевдоартроз великогомілкової кістки

ORPHA:295018· ICD-10 Q74.2· Congenital pseudoarthrosis of the tibia

Визначення(English summary)

A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.