Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations

Figure 1

Clinical images of the LRS patient. (a) Patient II-3 (the LRS proband’s mother) showed bilateral talipes equinovarus, multiple joint dislocation, and characteristic face of LRS (widely spaced eyes and depressed nasal bridge). (b) The spine X-ray of the LRS proband demonstrated that the thoracic spine was curved to the left and (c) the cervical curvature turned straight. (d) Pelvis radiograph of the LRS proband indicated that her acetabulum shaped like a “shallow dish” leading to bilateral dislocation of the hip joint. (e) Radiograph of both knee joints showed bilateral dislocation of the knee joint. (f) Right upper limb X-rays presented elbow joint dislocation. (g) Left wrist X-rays found that no ossification center appeared. (h) Radiograph of right ankle joints showed epiphyseal closure of distal tibia and basitarsi have disorganized bone architecture.

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