Holt-Oram syndrome

Case contributed by Dr Angela Byrne

Presentation

Cardiac septal defect and upper limb deformity.

Patient Data

Age: 11
Gender: Male
X-ray

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. 

Case 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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Case information

rID: 8121
Case created: 13th Jan 2010
Last edited: 3rd Oct 2015
Inclusion in quiz mode: Included

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