Figure 4.

Figure 4.

Radiographs of children with MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes showing diffuse osteopenia and metaphyseal sclerosis

A. Irregularities more pronounced in the femoral heads, coxa vara, right hip dislocation with external rotation of the lower limbs, and short tubular bones with bowing deformity of the left tibia

B. Left genu valgus and bowing deformity of the left tibia

C, D. Bowed right humerus and short metacarpals

Reproduced with permission from Alotaibi et al [2022]

From: MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes

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