Figure 2.

Sclerotic changes in the hands, feet, and pelvis of the osteopoikilosis affected patients positive for c.2203C > T (p.R735X) LEMD3 mutation. (A) Hyperostotic spots are seen bilaterally in the distal parts of radius and carpal bones (arrows) as well as in the phalanges of hands and feet and in the pelvis (arrowheads). (B) Radiological appearance of the right hand of the proband (V:I - carrying intron 5 IVS5-2 A > G mutation) at the age of 5 years. Large exostoses in the proximal part of the humerus, as well as in the proximal and distal ends of the ulna and radius are demarcated with arrows.