PMC9716274_01
Radiography and computed tomography of the legs, hip, and spine showing femoral, tibial, and fibular bowing, hip rotation, and an abnormal spine curvature.
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F1
Radiography of the head revealed a vertebral fusion between C5 and C6 (Figure 1). Brain magnetic resonance imaging showed Arnold-Chiari malformation type 1 (Supplementary Figure S1).
Graphic description of the SOX gene variant. We identified 115 cases of campomelic dysplasia, determined the amino acid variant (right side), and constructed a visual representation of the variant along SOX9 (left side). Missense variants are the lines over the image, whereas nonsense variants are the lines below the image. Missense variants are limited from amino acids 76 to 170. Ala = alanine, arg = arginine, asn = asparagine, asp = aspartic acid, asx = asparagine or aspartic acid, cys = cysteine, glu = glutamic acid, gln = glutamine, glx = glutamine or glutamic acid, gly = glycine, his = histidine, ile = isoleucine, leu = leucine, lys = lysine, met = methionine, phe = phenylalanine, pro = proline, ser = serine, thr = threonine, trp = tryptophan, tyr = tyrosine, val = valine. The SOX9 domains include a high-mobility group box (HMG) (gray box), self-dimerization domain (DIM) (dark gray box), and three transactivation domains (TAD), namely K2, PQA, and PQS. Black box includes the reported case.
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F2
Moreover, she had moderate conductive bilateral hearing loss, which was corrected with hearing aids (Supplementary Figure S2).
PMC9716274_02
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