Table 2. Assesment of particular characteristics significance for detection of SHOX mutations.
| Clinical feature | N | Total without variants (%) | SHOX patogenic mutations N = 6 (%) | P value | Sex chromosome aberrations N = 11 (%) | P value | SHOX VUS N = 25 (%) | P value |
|---|---|---|---|---|---|---|---|---|
| height (−2 SDS) | 265 | 147 (65.9) | 5 (83.3) | ns | 8 (72.7) | ns | 14 (56.0) | ns |
| weight <3. percercentile | 209 | 46 (27.5) | 2 (33.3) | ns | 4 (36.4) | ns | 2 (8.0) | ns |
| BMI >90. percercentile | 209 | 6 (3.6) | 0 (0.0) | ns | 2 (18.2) | ns | 4 (16.0) | 0.0276 (p < 0.05) |
| skeletal markers* | 216 | 22 (12.6) | 5 (83.3) | 0.0003 (p < 0.01) | 4 (36.4) | ns | 6 (22.2) | ns |
| Madelung deformity | 216 | 2 (1.2) | 4 (66.7) | 0.00001 (p < 0.01) | 2 (18.2) | 0.0181 (p < 0.05) | 0 (0.0) | ns |
| heart malformations | 216 | 16 (9.2) | 0 (0.0) | ns | 1 (9.1) | ns | 0 (0.0) | ns |
| other congenital malformations | 216 | 2 (1.2) | 0 (0.0) | ns | 1 (9.1) | ns | 2 (7.4) | ns |
| microcephaly/macrocephaly | 216 | 29 (16.7) | 0 (0.0) | ns | 0 (0.0) | ns | 1 (3.7) | ns |
| facial dysmorphia/abnormality of ears | 216 | 23(13.2) | 1 (16.7) | ns | 3 (27.3) | ns | 3 (11.1) | ns |
| micromandible/high arched palate/cleft palate | 216 | 4 (2.3) | 0 (0.0) | ns | 1 (9.1) | ns | 2 (7.4) | ns |
| hypospadia/hypogonadism | 216 | 0 (0.0) | 0 (0.0) | ns | 2 (18.2) | 0.0032 (p < 0.01) | 0 (0.0) | ns |
| neurodevelopmental impairment | 216 | 25 (14.5) | 0 (0.0) | ns | 1 (9.1) | ns | 5 (18.5) | ns |
| familial growth restriction | 216 | 56 (32.6) | 3 (50.0) | ns | 0 (0.0) | ns | 8 (29.6) | ns |
| intrauterine growth restriction (IUGR) | 208 | 42 (25.3) | 0 (0.0) | ns | 5 (45.5) | ns | 3 (11.1) | ns |
Notes.
*
disproportionate growth, mesomelia, rhizomelia, wrist changes, shortening of the fourth and fifth metacarpal bones, tibial bowing, muscular hypertrophy
- MD
- Madelung deformity
- CM
- congenital malformations