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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

Fig. 3

The analysis of variants c.555G > A (p.K185K) and c.1159C > T (p.L387F) in PAX1 in Patient 19. A Pre-operative lateral X-ray of the cervical spine demonstrating the classic “sandwich fusion” and atlantoaxial dislocation. B Post-operative lateral X-ray of the cervical spine at the one-year follow-up demonstrating maintenance of reduction of atlantoaxial dislocation by occipito-cervical fixation consisting of six occipital screws, one C2 pedicle screw, and one C3 pedicle screw. C Conserved Domain Search was performed, and the variant c.1159C > T (p.L387F) was located in the PHA03247 superfamily domain of the protein. D Multiple sequence alignments revealed that the mutation site in PAX1 was highly evolutionarily conserved

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172