Table 1.
Main characteristics of SOFT syndrome
| Total | number of missing data | |
|---|---|---|
| Gender (Male, M / Female, F) | 27 M/ 15F | 0 |
| Median (range) age at last investigation reported (years) | 7 (0.25–42) | |
| Age at last investigation: | ||
| - < 5 years | 11/33 (33.5%) | 9 |
| - 5–10 years | 10/33 (30.5%) | |
| - 10–15 years | 4/33 (12%) | |
| - 15–20 years | 0/33 (0%) | |
| - > 20 years | 8/33 (24%) | |
| Small for gestational age | 38/38 (100%) | 4 |
| - Median (range) gestational age at birth (weeks) | 39 (33–40) | 27 |
| - Median (range) birth weight (SDS) | -3.1 ([-5.9]-[0]) | 15 |
| - Median (range) birth length (SDS) | -4 ([-7.1]-[-2]) | 18 |
| Relative macrocephaly at birth | 31/35 (89%) | 7 |
| - Median (range) birth head circumference (SDS) | -1.4 ([-3.3]-0) | 22 |
| Short stature + Onychodysplasia + Facial dysmorphism + HypoTrichosis | 24/42 (57%) | 0 |
| Short stature | 42/42 (100%) | 0 |
| - Median (range) height (SDS) | -5.5 ([-8.5]-[-2.8]) | 9 |
| - Median (range) adult height (cm) | 132.5 (103.5–148) | 33 |
| Onychodysplasia | 24/42 (57%) | 0 |
| Facial dysmorphism | 42/42 (100%) | 0 |
| - Frontal bossing | 40/41 (98%) | 1 |
| - Triangular and elongated face | 36/41 (92.5%) | 1 |
| - Prominent nose | 34/41 (83%) | 1 |
| - Dolichocephaly | 19/41 (46%) | 1 |
| - Low-set ears | 14/41 (34%) | 1 |
| - Hypertelorism | 12/41 (29%) | 1 |
| - Deep-set eyes | 10/41 (24%) | 1 |
| HypoTrichosis | 31/42(74%) | 0 |
| High-pitched voice | 19/42 (45%) | 0 |
| Muscle cramps | 4/42 (9.5%) | 0 |
| Metabolic involvement | 10/42 (24%) | |
| Metabolic involvement in patients aged over 10 years | 9/12 (75%) | |
| - Median (range) BMI (SDS) | 23.05 (15–28.57) | |
| - Central distribution of fat | 8/42 (19%) | 32 |
| - Clinical and/or biological insulin resistance | 10/42 (24%) | |
| - Diabetes and/or glucose tolerance abnormalities | 7/42 (17%) | |
| - Dyslipidemia | 8/42 (19%) | |
| - Hepatic steatosis | 8/42 (19%) | |
| Neurological features: | ||
| - Normal psychomotor development | 29/42 (69%) | 0 |
| - Empty or flat sella turcica | 3/12 (25%) | 30 |
| - Vermian and cerebellar hypotrophy | 2/12 (17%) | 30 |
| Ophthalmological features | 10/16 (62.5%) | 26 |
| - Myopia | 2/16 (12.5%) | 26 |
| - Hypermetropia | 3/16 (19%) | 26 |
| - Retinopathy | 5/16 (31%) | 26 |
| Gonadal status | ||
| - central precocious puberty | F: 3/15 (20%) – M:0/26 (0%) | |
| - PCOS | 3/15 (20%) | |
| - Ovarian failure | 1/15 (7%) | |
| - Testicular failure | 1/26 (4%) | |
| Death | 2/42 (5%) | 0 |
The median was used to summarize the continuous quantitative variables with extreme values (range) in parentheses. The frequencies were used to summarize the qualitative variables and were reported as "No. (%)"
F Female, M Male, PCOS polycystic ovary syndrome, SDS standard deviation score