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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Fig. 4

Radiographic findings in Patient VI:3. a. Frontal radiograph of the pelvis shows increased bone density, trabecular thickening and ossification of the sacrotuberous ligament. Mild flattening of the acetabular roof is noted giving rise to champagne glass deformity of the pelvis. b Both lung fields are clear Bilateral CP angles are sharp. Mediastinal contours appear unremarkable. Scoliotic deformity of the spine is noted with convexity towards right side. c Outward bowing of bilateral femur is noted. d Bilateral fibula shows marked thinning and outward bowing (e, f) outward bowing of bilateral humerus bone is also noted. g Long oval face hypoplasia and bone deformities

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