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. Author manuscript; available in PMC: 2017 Jun 1.
Published in final edited form as: Am J Med Genet A. 2016 Apr 26;170(6):1422–1432. doi: 10.1002/ajmg.a.37612

Figure 2. Skeletal deformities.

Figure 2

A) The bilateral lower extremities were elongated and thin with grossly enlarged knees bilaterally. The skin of the left lateral leg showed a large violaceous linear vascular lesion. The left lateral femoral head (D1) and the right medial knee (H2) both demonstrated osteopenic viable bone with normal cortices and fatty marrow. Mutation levels for the left lateral femoral head bone (D1B) and the surrounding soft tissue (D1ST) was 29% and 17%, respectively. The mutational levels for the right medial knee bone (H2B) and surrounding soft tissue (H2ST) were 21% and 16%, respectively. B) The index and middle fingers of the right hand were enlarged at the proximal and distal interphalangeal joints and were deformed with ulnar deviation of the middle finger. The left hand was grossly normal. C) The spine demonstrated extreme kyphoscoliosis with marked deformity of the rib cage shifted to the left. The red area of the pie charts labeling the microscopic sections represent the AKT1 c.49G>A mutation level in the corresponding sample used for molecular testing.