Table 1 Clinical characteristics of included patients with idiopathic short stature
From: Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Characteristic | All 565 patients | 200 Exome patients a |
|---|---|---|
No. (%) | No. (%) | |
Age group | ||
< 4 y | 102 (18) | 33 (17) |
> 4 y | 463 (82) | 167 (83) |
Small for gestational age | 156 (28) | 59 (30) |
Short stature (SDs) | ||
−2 to –3 | 270 (48) | 99 (50) |
−3 to −4 | 133 (24) | 48 (24) |
−4 to −5 | 34 (6) | 17 (8) |
< −5 | 19 (3) | 9 (4) |
Below est. height | 109 (19) | 27 (14) |
Short stature type | ||
Isolated | 384 (68) | 134 (67) |
Syndromic | 181 (32) | 66 (33) |
Head circumference (SDs) | ||
> −2 | 448 (79) | 140 (70) |
−2 to −3 | 60 (11) | 26 (13) |
−3 to −5 | 45 (8) | 27 (14) |
< −5 | 12 (2) | 7 (3) |
IQ | ||
Normal | 450 (80) | 160 (80) |
70–85 | 115 (20) | 40 (20) |
Sex | ||
Female | 349 (62) | 122 (61) |
Male | 216 (38) | 78 (39) |
Bone age | ||
Accelerated | 16 (3) | 11 (5) |
Normal | 27 (5) | 19 (10) |
Delayed | 125 (22) | 68 (34) |
Not available | 397 (70) | 102 (51) |
