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Holt Oram syndrome

The Holt Oram syndrome is an autosomal dominant syndrome with congenital heart defects (usually VSD, ASD) and upper limb abnormalities (commonly radial aplasia, hypoplasia).

Radiographic features Should be suspected amongst the differential if upper limb abnormalities are noted along with heart defects on fetal ultrasound. The limb defects can be asymmetrical.

 Absence of the thumbs and some hypoplasia of the radii.
Hooked lateral clavicles