Presentation
Cardiac septal defect and upper limb deformity.
Patient Data
Age: 11 years
Gender: Male
From the case:
Holt-Oram syndrome
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Frontal
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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