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Figure 3. . Radiographs of a child with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes, age 37 months, with diffuse osteopenia; ovoid lumbar vertebral bodies; irregular aspect of cervical vertebral bodies, with mild reduction of vertebrae height; metaphyseal and epiphyseal irregularities of the long bones; mild metaphyseal enlargement; small epiphysis of the tubular bones; and copper-beaten skull.

Figure 3.

Radiographs of a child with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes, age 37 months, with diffuse osteopenia; ovoid lumbar vertebral bodies; irregular aspect of cervical vertebral bodies, with mild reduction of vertebrae height; metaphyseal and epiphyseal irregularities of the long bones; mild metaphyseal enlargement; small epiphysis of the tubular bones; and copper-beaten skull.

Reproduced with permission from Carvalho et al [2020]

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 3. [Radiographs of a child with...].
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