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Figure 5. . Skull and spine radiographs of child, age six years, with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes.

Figure 5.

Skull and spine radiographs of child, age six years, with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes. Straightened physiologic curvature of the cervical, thoracic, and lumbar spine. Irregular morphology and reduced bone density of the vertebral bodies, C2-C3 and C3-C4 intervertebral disc space narrowing, and bilateral shallow acetabulae.

Reproduced with permission from Chen et al [2022]

From: MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes

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Wang H, Wierenga A, Prabhu S, et al. MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes. 2023 Nov 30. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 5. [Skull and spine radiographs of...].
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