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What is Holt-Oram syndrome ?

What is Holt-Oram syndrome ? 

There is an ostium secundum ASD with a hypoplastic thumb and an accessory phalanx.

In addition, the thumb lies in the same plane as the other digits (Br Heart J 1960; 22: 236).

The inheritance is autosomal dominant and is associated with mutations to chromosome 12q2 (N Engl J Med 1994; 330:885-91 ).

Postimet e fundit






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