Table 1.

Demographic Overview of Cohort

Patient	Gender	Age at OI Dx (years)	Age at examination (years)	Ambulatory status	Height (cm)	Height Z-score	Weight (kg)	Weight Z-score	BMI (kg/m2)	Racea	Familial association	Bisphosphonate treatment
1	M	Birth	7	Ambulatory	118	−0.4	19	−1.1	13	A/C	Son of patient 3	Pamidronate (IV)
2	M	1.5	12	Ambulatory	149	0.2	36	−0.4	16	A/C	Son of patient 3	Pamidronate (IV)
3	F	0.5	48	Ambulatory w/assistance	147	−2.9	61	−0.4	28	C	Mother of patients 1 and 2	Alendronate (PO)
4	F	2.0	43	Wheelchair	97	−11.9	24	−1.6	26	C	–	–
5	F	2.0	33	Ambulatory	115	−6	41	−0.9	31	C	–	–
6	F	In utero (27 weeks)	2 months	n/a	53	−2.4	5	−0.8	17	C	Daughter of patient 7	–
7	M	Birth	32	Ambulatory	147	−3.6	43	−1.2	20	C	Father of patient 6	–
8	M	0.5	60	Wheelchair	98	−10.4	33	−3.6	34	C	Father of patient 9	Pamidronate (IV) and alendronate (PO)
9	M	0.7	24	Ambulatory	173	−0.5	68	−0.4	23	A/C	Son of patient 8	Pamidronate (IV)
10	F	2.0	23	Ambulatory	151	−1.5	74	−0.4	32	C	–	–
11	M	3.0	23	Wheelchair	152	−3.4	91	0.5	39	C	–	–
12	F	1.3	5	Ambulatory	86	−4.3	10	−1.8	13	C	–	Pamidronate (IV)
13	M	0.7	47	Wheelchair	150	−2.5	54	−2.2	24	C	–	–
14	M	n/a	6	Ambulatory	101	−3.0	14	−3.2	14	C	–	Alendronate
15	F	Birth	36	Ambulatory	140		56		28	C	–	Alendronate; ibandronate; zoledronic acid; calcitonin; teriparatide
16	F	1	4	Ambulatory	91	−2.7	12	−3.1	14	C	Daughter of patient 17	Pamidronate (IV)
17	F	0.5	21	Ambulatory	147		64		29	C	Mother of patient 16	None

OI = osteogenesis imperfecta; Dx = diagnosis; BMI = body mass index; IV = intravenously; PO = orally; n/a = not available.

^aA = Asian; C = Caucasian; H = Hispanic.