case_images: PMC10652562_01
case_images: Timeline of the case report.
case_images: fmed-10-1244888-g001.jpg
case_images: PMC10652562_02_fmed-10-1244888-g001.jpg
case_images: fig1
case_images: Physical examination, MRI, and CT imaging of the proband. (A) Bilateral short fourth metatarsal; (B,C) MRI for the sacroiliac joint; (D-F) CT for the sacroiliac joint.
case_images: fmed-10-1244888-g002.jpg
case_images: PMC10652562_01_fmed-10-1244888-g002.jpg
case_images: fig2
case_images: The lateral stress was negative, the lower limb muscle strength was V, the bilateral fourth metatarsal was short (Figure 2A), and the bilateral dorsal artery could be reached. Magnetic resonance imaging (MRI) of the sacroiliac joint indicated that these joints were properly aligned, with no stenosis in joint space and a smooth joint surface (Figures 2B,C). Computed tomography of the sacroiliac joint indicated that these joints were properly aligned with a slightly hyperplastic joint edge and no narrowing of the joint space (Figures 2D-F). In the MRI image, the free body displayed an upper part with a T1 phase density close to the muscle mass, while the T2 phase exhibited a low signal density area that corresponds to the calcification image displayed by the CT examination (Supplementary Figure S2).
case_images: PMC10652562_02
case_images: Timeline of the case report.
case_images: fmed-10-1244888-g001.jpg
case_images: PMC10652562_02_fmed-10-1244888-g001.jpg
case_images: fig1
case_images: Pedigree of the family. Proband (III-3) is identified with an arrow. Box shapes represent men, circle shapes represent women; black shapes represent affected family members, and white shapes represent healthy family members.
case_images: fmed-10-1244888-g003.jpg
case_images: PMC10652562_02_fmed-10-1244888-g003.jpg
case_images: fig3
case_images: COL2A1 variant by Sanger sequencing of family members. (A) The result of member II2; (B) the result of member II5; (C) the result of member III3 (proband); (D) the result of member II6; (E) the result of member III1; and (F) the result of member III2. Arrowheads indicate the heterozygous C to T transition at nucleotide 823 (c.823C > T), which predicts an arginine to cysteine missense mutation at codon 275 (R275C).
case_images: fmed-10-1244888-g004.jpg
case_images: PMC10652562_02_fmed-10-1244888-g004.jpg
case_images: fig4
case_images: After thorough manual filtering and review, the particular missense mutation (R275C, c.823C > T) in exon 13 of the COL2A1 gene was found in our data (Figure 4).