Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

Figure 2

Radiographs of the patients of kindred members. The X-ray findings of the proband were as follows. (a, b) Thoracolumbar anteroposterior position; the arrows indicate anterior superior and inferior edge depression, posterior hump protuberance, and milk bottle sign. (c) Lefthand positive position, interphalangeal joint enlargement as shown by arrow, carpal fusion. (d, e) The X-ray findings of the proband’s uncle. (d) Total spinal position, scoliosis. (e) Cervical vertebrae lateral position; the arrows indicate superior and inferior edges of vertebral body depression, milk bottle sign.

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