Holt Oram syndrome

Case contributed by Dr Andrew Dixon


Male with congenital heart disease. Chest x-ray taken on day of birth. Forearm and hand radiographs taken at 6 months of age.

Patient Data:

Age: At birth
Gender: Male
Modality: X-ray

Holt Oram syndrome 

Case Discussion:

There is absence of the thumbs and some hypoplasia of the radii. The clavicles display a prominent lateral hook.

In association with congenital heart disease, the upper limb deformities are suggestive of Holt Oram syndrome which was confirmed.

This patient's father also had the condition.

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