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. 2013 Sep 18;22(5):594–601. doi: 10.1038/ejhg.2013.207

Figure 3.

Figure 3

Lateral radiographs of spinal columns in eight patients with GNPTAB c.10A>C/p.K4Q ML compared with one ML II and two ML III α/β patients. Thoracolumbar vertebral bodies remain significantly foreshortened with concave frontal and convex upper/lower margins; delayed and deficient ossification. Similar findings are seen in ML II. In ML IIIα/β vertebral bodies are oblong, and show mild platyspondyly and irregular margins higher anteriorly than posteriorly. In all types of ML ossification is most deficient in either T12 or L1 or in both, often at the top of thoracolumbar kyphoscoliosis. A. Patient 1 at 8 years; B: Patient 2 at 6 years; C: Patient 3 at 9 years; D: Patient 4 at 19 years; E: Patient 5 at 19 years; F: Patient 6 at 18 years; G: Patient 7 at 7 years; H: Patient 8 at 4 years; ML II: female ML II patient at 4 years; ML III-1: male with ML III α/β at 18 years; ML-III-2: female with ML III α/β at 13 years.