Figure 2.

Imaging features of four spondyloepiphyseal dysplasia congenita patients with COL2A1 variants. Proband 1. X‐ray films revealed flattened vertebral bodies, kyphosis, lumbar lordosis (a, b), flattened acetabular roof, compressed femoral heads, femoral heads epiphyses dysplasia and shortened femoral necks (f). Proband 1's mother. Radiographs revealed mild kyphosis, lumbar lordosis (c, d), flattened acetabular roof, and shortened femoral necks (g). Proband 2. Radiographs showed flattened vertebral bodies, kyphosis, lumbar lordosis and scoliosis (e, j–l), flattened acetabular roof, compressed femoral heads, femoral heads epiphyses dysplasia, and shortened femoral necks (h). Proband 2' father. X‐ray films revealed mild kyphosis, lumbar lordosis (m, n), flattened acetabular roof, and shortened femoral necks (i)