Presentation
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
From the case:
Holt Oram syndrome
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Holt Oram syndrome:
- hooked lateral clavicles
- absence of the thumbs
- some hypoplasia of the radii
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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