Holt-Oram syndrome

Discussion:

Complete absence of the radius and thumb. Additionally there is hypoplasia of the 2nd metacarpal and digit, and a solitary finger articulates evenly with the 3rd and 4th metacarpals. Appearance is consistent with radial ray anomaly with the additional history of a cardiac septal defect suggesting underlying Holt-Oram syndrome as the underlying genetic cause. 

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