PMC9935240_01
The patient at one month of age. Whole body X-ray showing multiple fractures in the long bones of the extremities causing deformity by shortening and bowing. Some of the fractures demonstrate signs of pseudarthrosis and some other prominent bony callus and angulation. The ribs exhibit posterolateral thinning and widening at the costochondral junctions (beaded ribs). Diffuse deficient mineralization is seen throughout the skeleton.
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FIG2
At birth at 38 weeks, multiple fractures of the upper and lower extremities, including the skull, were observed (Figure 2).
Clinical findings during the evaluation given by the genetics team.. (A) Deformity in upper limbs given by shortening. (B) Micromelia of the upper limb and angular deformity. (C) Lower limb micromelia.
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FIG3
During the physical examination, they report a normocephalic skull with a wide forehead, blue sclerae, small nose, long nasolabial fold, and low implantation of the ears, as well as micromelia of the upper and lower limbs with a left equinovarus foot (Figure 3).
PMC9935240_02
PMC9935240_03
The patient at the age of 22.. (A) Preoperative and (B-C) postoperative spinal X-rays showing severe left thoracolumbar kyphoscoliosis. The double contour of the femoral heads, iliac, and acetabula bones resembles the typical "bone-in-bone" posttreatment appearance. Also, the deformity of the rib cage is noted due to a substantial pectus excavatum.
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FIG4
Scoliosis surgery was performed without any complications (Figure 4).
PMC9935240_04
The patient at the age of 26.. X-rays of the lower limbs, (A) left femur and (B-C) right leg, showing cortical bone thinning and excessive trabecular bone transparency due to osteopenia, as well as marked bowing (bending) of both diaphyses of the femur, tibia, and fibula with sequelae of previous fractures and operative intervention. (D-E) Chest X-ray reveals thoracic scoliosis and rib cage deformity due to pectus carinatum.
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FIG5
A continuous follow-up of the patient with current radiographs was carried out, which shows osteopenia, marked bowing of both diaphyses of the femur, and thoracic scoliosis (Figure 5).