Figure 3.

Clinical and Radiological Findings in Individual 3

(A) Results of Sanger sequencing. Individual 3 (II-1 in the pedigree) is homozygous for a c.520del mutation in XYLT2, and the parents are heterozygous for this deletion.

(B) Antero-posterior radiograph of the spine. Most vertebrae appear decreased in height.

(C) Lateral spine radiograph showing severe vertebral compression fractures.

(D) Mild deformities of the lower extremities. The right femur has been rodded after fracture. The metaphyseal lines that are prominent in distal femurs and proximal tibias are due to treatment with intravenous pamidronate infusions.

(E) Radiograph of the left hand and wrist, showing somewhat thin cortices.