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. Author manuscript; available in PMC: 2015 Jun 1.
Published in final edited form as: Am J Med Genet A. 2014 Mar 25;0(6):1580–1586. doi: 10.1002/ajmg.a.36487

Figure 2.

Figure 2

A. Left shoulder and elbow: Proximal humeral flattening, subluxation of the humeral head, dysplastic glenoid, dysplastic distal humerus with dislocated elbow, dysplastic radial head, bowing of radius and ulna, and functionally fused radio-ulnar joint.

B., C. C-spine upright flexion (B) and extension (C): Atlantoaxial and atlantooccipital instability.

D. Spine Xray lateral: Gibbus deformity at the L1 level, and gracile ribs.

E. Hip: Flat acetabular angles, broad and flattened iliac wings, and a lacy trabecular pattern.

F. Echocardiogram: Mild dilation of the aortic root and main pulmonary artery.