Table 3.

Clinical findings in patients with OI type V caused by the c.-14C>T mutation in IFITM5.

Clinical characteristics	Patient 1	Patient 2
Age at diagnosis	4	16
Age at last visit	21	21
Height SDS	− 3.57	− 1.41
Δ Height SDS
Height SDS – Target Height SDS	− 2.97	− 1.24
BMD z score (before treatment) (after treatment)	− 3.59	− 3.10
	− 0.20	− 3.60
Number of fractures	23	11
Fractures at birth	−	1
Hyperplastic callus	+	+++
Interosseous membrane calcification	+	+
Radial subluxation/luxation	−	−