thoracic dystrophy (asphyxiating)

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Asphyxiating thoraxic dystrophy is an autosomal recessive condition where there is an abnormality of growth of the whole skeleton, but in particular of the thorax. The consequence of this is a small thorax, often with respiratory problems from the first minutes of life.

Managment is supportive, with agressive treatment of respiratory infections and immunisation.

In older patients progressive renal failure is said to be common.

Last reviewed 01/2018