Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis

Figure 1

Computed tomography and X-ray imaging of the SCD3 proband. (a) Posterior CT image at three months. Note the disorganized vertebrae in the cervical, lumbar, and sacral spine and the right thoracic hemivertebrae. There are 10 left and 9 right asymmetrically set ribs with posterior proximal fusion and posterior distal fission. (b) 45-degree clockwise posterior CT image at three months. Note posterior rib fusion and fission as well as asymmetrical vertebral shape. (c) Posterior X-ray at one year and eight months. The posterior spine is characterized by the “pebble beach sign,” angulated vertebrae, and scoliosis. (d) Lateral X-ray at one year and eight months. Note the disorganized vertebral bodies in the thoracic and lumbar spine.

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