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The right fore limb showed an aplasia of the radius and a deformed, shortened thumb (Fig. 1A). In addition, the mobility of both hands was reduced due to a radial flexion. X-rays of the fore limbs confirmed these clinical findings and displayed the radial aplasia of the right fore limb and the malformation of the thumbs (Fig. 1B). Furthermore, the chest X-ray indicated a severely enlarged heart, with a strongly enhanced cardiothoracic ratio of 0.75 (Fig. 1C). In addition, the patient showed distinct cardiac malformations including multiple VSDs, a patent foramen ovale (PFO) and a severe insufficiency of the tricuspid valve (grade III). Echocardiography clearly visualized the two VSDs with diameters of 0.8 cm each (Fig. 1D).

Journal link: http://onlinelibrary.wiley.com/doi/10.1002/mgg3.234/full Image link: http://onlinelibrary.wiley.com/store/10.1002/mgg3.234/asset/image_n/mgg3234-fig-0001.png?v=1&t=iucedo57&s=b16a9492807e638df4bef7108cf1a340c26fb23a

PMID 27652283

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