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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

Fig. 1

A 2-month-old boy with upper limb MO-hypoplasia IF syndrome. a A view to compare the affected right upper limb to the unaffected left upper limb. Note that the overgrowth is more prominent in the hand/forearm than the arm. b A view of the hand showing hypoplasia and ulnar-deviation of the index finger. Note the wide palm with abnormal palmar creases as well as the hyperextension of the thumb. c Plain X-ray of the hand showing a short hypoplastic index finger and widening of the space between the second and the third metacarpal. d MRI of the forearm showing the “pure” muscle overgrowth. e A view during the muscle biopsy procedure. Note the bulky muscles with a normal subcutaneous fat layer

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