Figure 11.

Figure 11.

Radiologic features for the different genes identified in a cohort of individuals with regional multiple segmentation defects of the vertebrae

A-D. An individual with DLL3-related SCDO

E & F. An individual with LFNG-related SCDO

G. An individual with HES7-related SCDO

H. An individual with spondylothoracic dysostosis (STD) due to biallelic pathogenic variants in MESP2

I & J. An individual with TBX6-related SCDO

Reprinted with permission from Lefebvre et al [2018]

From: Spondylocostal Dysostosis, Autosomal Recessive

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