Figure 4.

Hand radiographs in GNPTAB c.10A>C/p.K4Q ML patients: comparison with ML II and ML IIIα/β. DM in the hands is similar to that in ML II and distinctly more severe than in ML IIIα/β. Figures show shortening and diaphyseal widening in all tubular hand bones; severely delayed and deficient ossification of epiphyses, carpal bones and the distal ulnar and radial epiphyses; and apparent regression of mid-diaphyseal widening in older patients concomitant with progressive generalized osteopenia. A: Patient 1 at 8 years; B: Patient 2 at 4 years; C: Patient 3 at 9 years; D: Patient 4 at 9 years; E: Patient 5 at 19 years; H: Patient 8 at 6 years; ML II: female with ML II at 4 years; ML III-2: female with ML III α/β at 13 years.