Table 1 Clinical, biochemical, radiological, and genetic findings of patients with HR

Gene, Variant

PHEX, c.871C > T

PHEX, c.1946_1954del

DMP1, c.54 + 1G > A

Age at diagnosis (years)

6

1 year and 4 months

2

Weight (kg), percentile at diagnosis

20.5, <P3

7.3, <P3

N/A, P25–50

Height (cm), percentile at diagnosis

104, P50

70, <P3

N/A, P25–50

Growth retardation

Yes

Yes

No

Bowing of legs

Yes

Yes

Yes

Frontal bossing

Yes

Yes

No

Wrist swelling

No

Yes

Yes

Ankle swelling

No

No

No

Serum phosphate (mmol/L)

Normal range: 1.1–1.8

0.78

0.52

0.81

Serum calcium (mmol/L)

Normal range: 2.10–2.55

2.16

2.38

2.12

Serum ALP (U/L)

Normal range: 100–350

436

1479

501

25-hydroxyvitamin-D (nmol/L)

Normal range: >  50

56.5

51.0

normal^a

Urine calcium/creatinine ratio

Normal range: < 0.7

N/A

0.04

0.45

TmP/GFR

Normal range: 1.07–2.23

N/A

0.51

N/A

Radiological changes

Features of rickets at distal femur and tibia

Features of rickets at distal ulna and radius

Features of rickets at distal femur and tibia, distal ulna and radius.