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Figure 2.

Figure 2.

Clinical features of several children with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes

A. Affected child at age six years with kyphoscoliosis (black arrows point to the prominent spinous processes)

B. Affected child at age 40 months with shortening of limbs and kyphoscoliosis

C. Affected child at age ten years with triangular face, prominent cheekbones, micrognathia, short neck, protruding abdomen, shortening of limbs, and genu valgum

D, E. Affected child at age six years with laterally protruding ears, retromicrognathia, sternal malformation, protruding abdomen, and kyphoscoliosis

Reproduced with permission from Kondo et al [2018] (A); Carvalho et al [2020] (B); Alotaibi et al [2022] (C); Chen et al [2023] (D, E)

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 2. [Clinical features of several children...].
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