Figure 4.

(A) X-rays of the skeleton of patients 3, 4, and 6. (A–D) Patient 3 at age 4 days; born with multiple congenital abnormalities of the bones. (A) The pelvis shows flat acetabula and short femoral necks. (B) The right arm demonstrates metaphyseal widening and irregularity. (C) The knee in the lateral view demonstrates metaphyseal irregularity in detail. (D) The image of the right leg demonstrates irregularly widened metaphyses at the distal femur and proximal and distal tibia, with a dysplastic knee joint and varus deformity. (E) Patient 4 at age 4 months; total legs, demonstrating flat acetubular roofs, wide femoral head metaphyses with short femoral necks. There is slight bowing and varus in the knees. The metaphyses around the knee show widening and irregularity. (F–H) Patient 6 at age 7 years. (F,G) Total legs and pelvic showing small iliac wings, coxa vara with small femoral heads and necks. This is shown in detail in image (G). The metaphyses around the knee demonstrate the typical striated sclerosis. The knee joints are dysplastic, and there is a varus deformity. (H) Both hands with irregularly widened and sclerotic metaphyses in the distal radius and ulna. Irregular metaphyses of the phalanges. (I,J) Patient 6 at age 12 years; total spine with scoliosis. The vertebral plates seem to have a double layer, with abnormal sclerosis of the plates. Lateral view shows the sclerosing of the vertebral plates from dorsal to ventral, resulting in a double contour.