Figure 1.
Pedigrees of the four families in this study.
Patients with OI type V are shown by filled symbols. Arrows indicate the probands.
Table 1.
Clinical and radiological features of cohort.
Figure 2.
Typical radiographic manifestations.
(A) Radiography of the proband of family 1 revealed an irregular radiodense mass arising from the right femur and widened metaphyses with metaphyseal dense bands. (B) Radiography of the affect mother of family 1 revealed calcification of the forearm interosseous membrane and radial-head dislocation. (C) Radiography of the proband of family 3 revealed metaphyseal dense bands of distal radial but no calcification of the forearm interosseous membrane or radial-head dislocation. (D) Radiography of the proband of family 4 revealed an irregular radiodense mass arising from the left femur and “zebra” lines (arrow) induced by intravenous ibandronate. (E) Skull radiography of the proband of family 4 revealed Wormian bones and mandibular hypoplasia (the drawn line represents the normal contour).
Figure 3.
Sanger sequencing of IFITM5 identified the identical heterozygous c.-14C>T mutation (black arrow) in all the affected patients with IO type V.