case_images: PMC11825289_01
case_images: Clinical manifestations of the patient. (A)Photograph of the patient showing the generalized body atrophy, short stature, anterior lumbar lordosis and a barrel chest. (B)Spinal radiograph exhibiting thoracolumbar scoliosis. (C)Spinal radiograph demonstrates flattened vertebral bodies, increased horizontal diameter, and central protrusion with concave changes at the anterior upper and lower edges of some vertebrae(red arrow). (D)Gene sequencing of the homozygous frameshift mutation p.Q131Vfs*37 (c.391_392del) in the TRAPPC2 gene within the patient's family.
case_images: ACR2-7-e70000-g001.jpg
case_images: PMC11825289_01_ACR2-7-e70000-g001.jpg
case_images: acr270000-fig-0001
case_images: Physical examination revealed a short neck, anterior lumbar convexity, and barrel chest and normal intelligence (Figure 1A). The x-ray of the vertebrae demonstrated thoracolumbar scoliosis (Figure 1B), flattened vertebral bodies, and hump-like bony projections in the centroposterior portions of upper and lower endplates (Figure 1C red arrow). Whole-exome sequencing identified a homozygous frameshift mutation p.Q131Vfs*37 (c.391_392del) in the TRAPPC2 gene (Figure 1D), which is a novel mutation in Asian individuals.