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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1. . Craniofacial features of several children with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes.

Figure 1.

Craniofacial features of several children with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes. Characteristic features include prominent forehead, prominent cheekbones, retromicrognathia, wide mouth, and large, prominent ears.

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

From: MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes

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