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Figure 1 | BMC Medical Genetics

Figure 1

From: Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Figure 1

The proband at the age of 8 years and 4 months: a) Bilateral upper limb defect comprised of absent thumbs and radial bone agenesis resulting in significant forearm shortening b) X-ray scan of the proband’s left forearm showing absent radius along with Ist digital ray c) right forearm of the proband with prominent contraction of the zeugopod d) Facial dysmorphic features seen in the proband e) Lateral view of the proband’s face.

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