. 2023 Jan 3;108(7):1776–1786. doi: 10.1210/clinem/dgac752

Table 1.

Phenotypes of patients with WNT1 mutations at baseline

Patient No.	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16
Sillence classification	III	III	III	III	IV	III	IV	IV	IV	III	IV	III	EOOP	EOOP	EOOP	EOOP
Sex	F	M	F	M	M	M	M	M	M	M	M	M	F	F	M	M
Family history	No	No	No	No	No	No	No	No	No	No	No	No	Yes	Yes	No	No
Consanguineous family	No	No	Yes	No	No	No	No	No	No	No	No	No	No	No	Yes	No
Age at first diagnosis, y	1.8	4.0	9.0	6.5	2.5	15.0	11.0	10.8	12.4	24.0	16.0	1.5	7.3	32.0	38.0	47.0
Age at first fracture, y	0	3 d	9 d	2 mo	10 mo	16 mo	2	3	8	10	13	0.5	3	6	27	47
Peripheral fracture, times	8	7	25	10	2	2	2	1	6	8	1	4	4	5	0^a	0^a
Multiple vertebral fractures	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes	Yes
Scoliosis	No	No	Yes	Yes	No	Yes	No	No	No	Yes	No	No	No	No	Yes	No
Limb deformities	Yes	Yes	Yes	Yes	No	No	No	No	No	Yes	No	Yes	No	No	No	No
Ptosis	Yes	No	No	Yes	No	No	No	No	No	No	No	Yes	No	No	No	No
Joint hypermobility	No	No	Yes	No	No	No	No	Yes	No	No	No	No	No	No	No	No
Blue sclera	Yes	Yes	Yes	No	No	Yes	No	Yes	Yes	No	No	No	No	No	No	No
Dentinogenesis imperfecta	No	No	Yes	No	No	No	No	No	No	No	No	No	No	No	No	No
Intellectual disability	No	No	No	No	No	No	No	No	No	No	No	No	No	No	No	Yes
Height, Z score	−3.5	−2.2	−9.3	−1.6	0.1	−2.3	−1.7	−0.2	−0.8	−3.0	−0.3	−1.4	−0.5	1.2	−1.5	−1.1
Weight, Z score	−0.7	−1.8	−7.1	−0.4	−1.0	−6.4	0.5	1.5	2.4	−0.9	0.3	0.6	0.7	−0.8	−1.4	1.3
LS BMD Z score	−4.2	−7.9	−6.4	−0.5	−4.2	−6.4	−3.6	−4.2	−3.8	−4.4	−2.5	−8.5	−2.7	−3.0	−4.0	−2.6
FN BMD Z score	−5.6	−1.9	−7.4	NA	−5.2	−4.9	−4.1	−5.5	−5.3	−5.1	−3.1	−8.2	−4.9	−2.3	−3.7	−2.6
ALP, U/L	198	289	238	264	218	207	257	321	276	90	145	377	173	41	76	69
β-CTX, ng/mL	0.87	1.06	NA	1.11	1.05	0.70	1.06	1.30	0.50	0.20	NA	0.83	1.32	0.22	0.41	0.10

Patient 4, 5, and 16 had received antiresorptive treatment at baseline. FN BMD of the proximal femur in patient 4 was not unavailable because of the intramedullary nail.

Abbreviations: β-CTX, cross-linked C-telopeptide of type I collagen; ALP, alkaline phosphatase; BMD, bone mineral density; EEOP, early-onset osteoporosis; F, female; FN, femoral neck; LS, lumbar spine 2−4, M, male; NA, not available; TH, total hip.

Patients 15 and 16 had no peripheral fragility fractures and they went to the hospital because of back pain or low BMD identified at age 27 or 47 years.