Figure 9.

Figure 9.

Imaging of individuals with RIPPLY-related SCDO

A-C. 3D CT of male age 15 months with RIPPLY-related SCDO, showing failure of formation of the posterior elements of C1-C4 with descent of the occipital bone, resulting in canal stenosis and cord compression

D. AP radiograph of same male age 12 months, showing hemivertebrae and butterfly vertebrae situated between T2 and T7, resulting in a mild thoracic scoliosis

E & F. 3D CT of affected brother of A-D, age three years, showing complex craniocervical anomaly with deficiency of the posterior elements of C1-C3, left hemivertebrae at C4 and T9, and right hemivertebra at T4.

Reproduced from McInerney-Leo et al [2015] with permission from Oxford University Press

From: Spondylocostal Dysostosis, Autosomal Recessive

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