PMC8554157_01
PMC8554157_02
PMC8554157_03
Photographs of the patients. (A) Diagram of the disease progression of patient 1. (B) Anteroposterior view of patient 1 at 12 years old, showing a triangular face, micrognathia, and a protruding forehead. View of the same patient showing elbow deformities and a short forearm (C), and ulnar deviation of both wrists (D). (E) Swollen left wrist of patient 2. R, right; y, year; m, month; PIP, proximal interphalangeal; MTX, Methotrexate; LEF, Leflunomide; SSZ, Sulfasalazine; MCTO, Multicentric carpo-tarsal osteolysis syndrome; MAFB, MAF bZIP transcription factor B.
fped-09-745812-g0001.jpg
PMC8554157_07_fped-09-745812-g0001.jpg
F1
Table 1). This mutation was in the highly conserved transactivation domain (Supplementary Figures 1C,D), which is reported to be pathogenic.
Radiological findings. X-ray of the hands of patient 1 (A), taken at 12 years old, showing severe erosion of the carpal bones and the proximal metacarpal bones. X-ray of the elbows of patient 1 (B,C), showing deformation of the distal right humerus and proximal ulnar and radius; destruction of the ossification center, narrowing of the space in the right elbow joint, and swelling of the soft tissue around the right elbow joint. X-ray of the wrist of patient 2 (D) showing abnormal bilateral carpal bone morphology, especially the proximal row of carpal bones.
fped-09-745812-g0002.jpg
PMC8554157_07_fped-09-745812-g0002.jpg
F2
Destruction of the joints in the right wrist was more severe than that in the left (Figure 2D).
PMC8554157_04
PMC8554157_05
Photographs of the patients. (A) Diagram of the disease progression of patient 1. (B) Anteroposterior view of patient 1 at 12 years old, showing a triangular face, micrognathia, and a protruding forehead. View of the same patient showing elbow deformities and a short forearm (C), and ulnar deviation of both wrists (D). (E) Swollen left wrist of patient 2. R, right; y, year; m, month; PIP, proximal interphalangeal; MTX, Methotrexate; LEF, Leflunomide; SSZ, Sulfasalazine; MCTO, Multicentric carpo-tarsal osteolysis syndrome; MAFB, MAF bZIP transcription factor B.
fped-09-745812-g0001.jpg
PMC8554157_07_fped-09-745812-g0001.jpg
F1
Table 1). This mutation was in the highly conserved transactivation domain (Supplementary Figures 1C,D), which is reported to be pathogenic.
PMC8554157_06
Photographs of the patients. (A) Diagram of the disease progression of patient 1. (B) Anteroposterior view of patient 1 at 12 years old, showing a triangular face, micrognathia, and a protruding forehead. View of the same patient showing elbow deformities and a short forearm (C), and ulnar deviation of both wrists (D). (E) Swollen left wrist of patient 2. R, right; y, year; m, month; PIP, proximal interphalangeal; MTX, Methotrexate; LEF, Leflunomide; SSZ, Sulfasalazine; MCTO, Multicentric carpo-tarsal osteolysis syndrome; MAFB, MAF bZIP transcription factor B.
fped-09-745812-g0001.jpg
PMC8554157_07_fped-09-745812-g0001.jpg
F1
Table 1). This mutation was in the highly conserved transactivation domain (Supplementary Figures 1C,D), which is reported to be pathogenic.
PMC8554157_07
Photographs of the patients. (A) Diagram of the disease progression of patient 1. (B) Anteroposterior view of patient 1 at 12 years old, showing a triangular face, micrognathia, and a protruding forehead. View of the same patient showing elbow deformities and a short forearm (C), and ulnar deviation of both wrists (D). (E) Swollen left wrist of patient 2. R, right; y, year; m, month; PIP, proximal interphalangeal; MTX, Methotrexate; LEF, Leflunomide; SSZ, Sulfasalazine; MCTO, Multicentric carpo-tarsal osteolysis syndrome; MAFB, MAF bZIP transcription factor B.
fped-09-745812-g0001.jpg
PMC8554157_07_fped-09-745812-g0001.jpg
F1
Table 1). This mutation was in the highly conserved transactivation domain (Supplementary Figures 1C,D), which is reported to be pathogenic.
Radiological findings. X-ray of the hands of patient 1 (A), taken at 12 years old, showing severe erosion of the carpal bones and the proximal metacarpal bones. X-ray of the elbows of patient 1 (B,C), showing deformation of the distal right humerus and proximal ulnar and radius; destruction of the ossification center, narrowing of the space in the right elbow joint, and swelling of the soft tissue around the right elbow joint. X-ray of the wrist of patient 2 (D) showing abnormal bilateral carpal bone morphology, especially the proximal row of carpal bones.
fped-09-745812-g0002.jpg
PMC8554157_07_fped-09-745812-g0002.jpg
F2
Destruction of the joints in the right wrist was more severe than that in the left (Figure 2D).