PMC10167838_01
PMC10167838_02
PMC10167838_03
PMC10167838_04
PMC10167838_05
PMC10167838_06
PMC10167838_07
PMC10167838_08
Timeline demonstrating the clinical courses of all eight patients with relation to age.
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F1
Figure 1. Figures 2, 3 show illustrative clinical photos and radiographic images for the patients.
Clinical photos of Patients 3, 4, 5, 7, and 8. Patient 3: Bilateral shoulder and left elbow contractures with inability to raise hands above shoulder level, also bilateral hip and knee flexion contractures resulting in stooped posture even during walking, depends on powered wheelchair for mobility. Patient 4: Bilateral shoulder and elbow contractures and severe kyphoscoliosis with impending chin-on-chest deformity. Patient 5: Unaffected lower limbs but fully ankylosed spine from cervical to lumbar in kyphotic position, needs to stand with hips and knees flexed to maintain balance. Patient 7: Limited right shoulder abduction with decreased range of motion and other joints are minimally affected otherwise. Patient 8: Characteristic big toe deformity with hallux valgus.
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F2
Figure 1. Figures 2, 3 show illustrative clinical photos and radiographic images for the patients.
Foot radiographs from Patients 1, 3, 4, 5, 7, and 8, and spine radiographs from Patients 1, 4, 6, and 7 (foot radiographs). Patient 1: Deformed heads of bilateral first metatarsals and proximal phalanges with hallux valgus. Fused proximal and distal phalanges of both big toes. Patient 3: Deformed heads of bilateral first metatarsals and phalanges of bilateral big toes. They are hypoplastic and short with fusion of proximal and distal phalanges of both big toes. Patient 4: Tri-phalangeal big toes on both sides with fusion of the proximal and middle phalanges. Subtle hallux valgus. Patient 5: Subtle hallux valgus. Patient 7: Dysplastic heads of bilateral first metatarsals and proximal phalanges of both big toes. Right big toe appears short. Patient 8: Bilateral heads of first metatarsals appear dysplastic with short hypoplastic bilateral big toes with single phalanx. Bilateral hallux valgus (spine radiographs) Patient 1: Ossifications of the paravertebral soft tissue demonstrated on the lateral view with a kyphotic spinal curvature. Patient 4: Extreme kyphoscoliosis of the whole spine with segments of cervical spine fusion and impending chin-on-chest deformity. Patient 6: Relative preservation of normal thoracic spinal alignment with no major heterotopic ossifications. This spinal radiograph is taken at similar age as that of Patient 1. Patient 7: Paraspinal soft tissue ossifications extending from upper back down to upper sacral level with relatively preserved vertical spinal alignment. This spinal radiograph is taken at similar age as that of Patient 4.
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F3
Figure 1. Figures 2, 3 show illustrative clinical photos and radiographic images for the patients.