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Figure 1
Typical appearance of the patient: short trunk, small thorax, distinctive abdomen and micromelia.
Figure 2
Radiographical findings: short tubular bone with widened metaphyses and non ossified cervical vertebrae, short unfractured ribs, narrow bell-shaped chest, lack of ossification in pelvis and normal ossification of the skull.
Figure 3
Integrative Genomics Viewer and chromatogram view of the COL2A1 gene. (a) Excerpt of exome sequencing data visualized with th Integrative Genomics Viewer. (b) Result of DNA sequencing. A novel heterozygous germline mutation, c.2456G>A, p.Gly849Asp on the COL2A1 gene (indicated by a black arrow).