Table 2 Clinical manifestations at diagnosis
From: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Patient | Age at diagnosis | Bone deformities | Active rickets | Longitudinal growth retardation (≤ 2 SDS) | Dental problems |
|---|---|---|---|---|---|
I.1 | 3 m | No | – | No | – |
I.2 | 1 y | Yes | – | Yes | – |
II.1 | 1 y 5 m | Yes | Yes | Yes | No |
III.1 | 1 y 6 m | – | Yes | Yes | Yes |
IV.1 | 1 y 4 m | No | No | Yes | Yes |
IV.2 | 4 y | No | No | No | No |
V.1 | 5 y | Yes | Yes | Yes | No |
VI.1 | 2 y | Yes | No | No | No |
VII.1 | 8 y | – | – | – | – |
VII.2 | 2 y | – | Yes | – | No |
VII.3 | 11 m | – | Yes | Yes | No |
VII.4 | 1 y | – | – | Yes | – |
VIII.1 | 4 y | Yes | Yes | No | No |
IX.1 | 5 y | Yes | Yes | No | No |
X.1 | 5 y | Yes | Yes | Yes | No |
XI.1 | 2 y 3 m | Yes | Yes | Yes | No |
XII.1 | 2 y | Yes | Yes | – | – |
XIII.1 | 5 y | – | Yes | – | – |
XIV.1 | 9 m | Yes | Yes | No | No |
XV.1 | 1 y 1 m | Yes | Yes | Yes | – |
XVI.1 | 4 y | Yes | – | Yes | No |
XVII.1 | 5 y | – | – | Yes | – |
XVIII.1 | 2 y | Yes | Yes | Yes | No |
XIX.1 | 7 m | Yes | Yes | – | No |
XX.1 | 2 y 1 m | Yes | – | Yes | – |
XXI.1 | 4 y 5 m | Yes | Yes | No | No |
XXII.1 | 4 y | Yes | Yes | Yes | No |
XIII.1 | 2 y | Yes | Yes | No | No |
XXIV.1 | 3 y | Yes | – | No | – |
XXV.1 | 1 y 6 | Yes | Yes | No | No |
XXVI.1 | 4 y | Yes | Yes | Yes | No |
XXVII.1 | 6 m | Yes | Yes | No | No |
XXVII.2 | 8 y | – | Yes | – | No |
XXVIII.1 | 1 y 6 m | Yes | – | No | – |
XXVIII.2 | 6 m | Yes | Yes | No | No |
XXIX.1 | 1 y 9 m | Yes | Yes | Yes | No |
XXX.1 | 1 y 1 m | Yes | Yes | Yes | – |
XXX.2 | 1 y 6 m | – | Yes | – | No |
XXXI.1 | 8 y2 m | Yes | Yes | Yes | No |
XXXII.1 | 1 y 6 m | Yes | Yes | No | No |
XXXIII.1 | 5 y | – | – | Yes | – |
XXXIV.1 | 2 y 2 m | Yes | Yes | No | No |
XXXV.1 | 7 m | Yes | Yes | No | – |
XXXV.2 | 2 y 6 m | Yes | Yes | Yes | – |
XXXVI.1 | 6 m | Yes | Yes | No | No |
XXXVII.1 | 1 y 9 m | Yes | Yes | Yes | Yes |
XXXVIII.1 | 1 y 6 m | Yes | Yes | No | No |
XXXIX.1 | 2 y 2 m | Yes | Yes | – | No |
Percentage of patients | P/A/U | P/A/U | P/A/U | P/A/U | |
73/6/21 | 73/6/21 | 46/38/17 | 6/63/31 | ||