Table 2. Phenotypic comparison in three groups of patients with Silver-Russell syndrome.
| H19-DMR hypomethylation | Upd(7)mat | Unknown | P-value | |||
| (Group 1) | (Group 2) | (Group 3) | G1 vs. G2 | G1 vs. G3 | G2 vs. G3 | |
| Patient number | 43 (31.2%) | 9 (6.5%) | 85 (62.0%) | |||
| Mandatory criteria | 43/43 (100%) | 9/9 (100%) | 85/85 (100%) | 1.000 | 1.000 | 1.000 |
| Scoring system criteria (5/5) | 10/43 (23.2%) | 2/9 (22.2%) | 0/85 (0.00%) | 0.965 | 1.52×10−4 | 2.58×10−2 |
| Scoring system criteria (4/5) | 16/43 (37.2%) | 4/9 (44.4%) | 19/85 (22.4%) | 0.792 | 1.45×10−2 | 0.145 |
| Scoring system criteria (3/5) | 17/43 (39.5%) | 3/9 (33.3%) | 66/85 (77.6%) | 0.821 | 7.17×10−4 | 0.161 |
| Gestational age (weeks:days) | 38∶0 (34∶3∼40∶0) (n = 36) | 38∶0 (34∶4∼40∶0) (n = 9) | 37∶6 (27∶1∼41∶4) (n = 65) | 0.877 | 0.120 | 0.450 |
| BL (SDS) | –4.13±2.01 (n = 31) | –3.18±1.16 (n = 9) | –2.93±1.43 (n = 60) | 2.67×10−2 | 6.69×10−5 | 0.619 |
| BW (SDS) | –3.50±0.85 (n = 42) | –2.90±0.64 (n = 9) | –2.71±1.14 (n = 64) | 3.28×10−2 | 5.87×10−4 | 0.640 |
| BL≤–2 SDS and/or BW≤–2 SDS* | 43/43 (100%) | 9/9 (100%) | 85/85 (100%) | 1.000 | 1.000 | 1.000 |
| BL≤–2 SDS and BW≤–2 SDS | 39/43 (90.7%) | 7/9 (77.8%) | 76/85 (89.4%) | 0.474 | 0.821 | 0.304 |
| BOFC (SDS) | –0.54±1.22 (n = 29) | –1.44±0.47 (n = 9) | –1.92±1.09 (n = 48) | 3.74×10−2 | 1.52×10−6 | 0.202 |
| BL (SDS) – BOFC (SDS) | –3.70±2.02 (n = 27) | –1.73±1.20 (n = 9) | –0.943±1.48 (n = 43) | 1.02×10−2 | 3.40×10−9 | 0.111 |
| BW (SDS) – BOFC (SDS) | –3.21±1.20 (n = 27) | –1.53±0.57 (n = 9) | –1.04±1.55 (n = 48) | 0.326 | 7.38×10−9 | 0.331 |
| Relative macrocephaly at birth†BL or BW (SDS) – BOFC (SDS)≤–1.5 | 29/29 (100%) | 7/9 (77.8%) | 16/45 (35.6%) | 0.341 | 3.67×10−8 | 2.05×10−2 |
| Present age (years:months) | 4.1 (0∶6∼30∶6) (n = 31) | 4.8 (2∶4∼25∶2) (n = 9) | 4.3 (0∶1∼18∶6) (n = 60) | 0.437 | 0.813 | 0.335 |
| PH (SDS) | –3.58±1.65 (n = 35) | –3.77±1.13 (n = 9) | –3.17±1.50 (n = 61) | 0.757 | 0.218 | 0.253 |
| PH≤–2 SDS (≥2 years)† | 29/35 (82.5%) | 8/9 (88.9%) | 52/61 (85.2%) | 0.760 | 0.758 | 0.772 |
| PW (SDS) | –3.15±1.16 (n = 32) | –2.77±0.76 (n = 9) | –2.77±1.34 (n = 59) | 0.362 | 0.144 | 0.968 |
| POFC (SDS) | –1.16±1.18 (n = 21) | –0.01±0.91 (n = 9) | –1.81±1.57 (n = 35) | 2.01×10−3 | 0.107 | 3.08×10−3 |
| PH (SDS) – POFC (SDS) | –2.47±1.63 (n = 16) | –3.62±1.38 (n = 8) | –1.55±1.82 (n = 35) | 0.103 | 4.39×10−2 | 1.64×10−2 |
| PW (SDS) – POFC (SDS) | –2.84±1.31 (n = 21) | –2.69±1.36 (n = 9) | –1.08±1.71 (n = 35) | 0.782 | 2.54×10−2 | 1.90×10−4 |
| Relative macrocephaly at presentPH or PW (SDS) – POFC (SDS)≤–1.5 | 20/21 (95.2%) | 8/8 (100%) | 29/43 (67.4%) | 0.223 | 4.77×10−3 | 0.156 |
| Triangular face during early childhood | 42/43 (97.7%) | 8/9 (88.9%) | 65/65 (100%) | 0.442 | 0.0773 | 5.98×10−3 |
| Prominent forehead during early childhood† | 31/37 (83.8%) | 7/9 (100%) | 41/53 (77.4%) | 0.200 | 0.456 | 0.978 |
| Ear anomalies | 14/35 (40.0%) | 3/9 (33.3%) | 15/55 (27.3%) | 0.717 | 0.290 | 0.823 |
| Irregular teeth | 12/26 (46.2%) | 4/9 (44.4%) | 12/45 (26.7%) | 0.930 | 0.0968 | 0.291 |
| Body asymmetry† | 30/37 (81.1%) | 3/9 (33.3%) | 19/59 (32.2%) | 4.77×10−3 | 3.51×10−6 | 0.947 |
| Clinodactyly | 29/37 (78.4%) | 5/9 (55.6%) | 50/58 (86.2%) | 0.167 | 0.323 | 2.68×10−2 |
| Brachydactyly | 30/38 (78.9%) | 2/9 (22.2%) | 34/56 (60.7%) | 1.16×10− 3 | 0.0642 | 3.24×10−2 |
| Syndactyly | 3/36 (8.3%) | 0/9 (0.00%) | 3/52 (5.77%) | 0.375 | 0.641 | 0.464 |
| Simian crease | 4/26 (15.4%) | 2/7 (28.6%) | 6/49 (12.2%) | 0.429 | 0.705 | 0.252 |
| Muscular hypotonia | 17/32 (53.1%) | 5/9 (55.6%) | 12/50 (24.0%) | 0.898 | 7.49×10−3 | 0.0564 |
| Developmental delay | 18/37 (48.6%) | 6/9 (66.7%) | 25/54 (46.3%) | 0.337 | 0.826 | 0.262 |
| Speech delay | 8/31 (25.8%) | 6/9 (66.7%) | 18/43 (41.9%) | 2.55×10−2 | 0.156 | 0.179 |
| Feeding difficulty† | 16/34 (47.1%) | 6/9 (66.7%) | 25/51 (49.0%) | 0.301 | 0.860 | 0.333 |
| Placental weight (SDS) | –2.10±0.74 (n = 14) | –1.72 ± 0.74 (n = 6)a | –1.02±0.86 (n = 18) | 0.312 | 4.12×10−3 | 8.24×10−3 |
| Paternal age at childbirth (years:months) | 32∶0 (19∶0∼52∶0) (n = 24) | 35∶0 (27∶0∼48∶0) (n = 9) | 32∶0 (25∶0∼46∶0) (n = 45) | 0.223 | 1.00 | 0.105 |
| Maternal age at childbirth (years:months) | 32∶0 (19∶0∼43∶0) (n = 25) | 33∶0 (25∶0∼42∶0) (n = 9)b | 30∶0 (22∶0∼43∶0) (n = 46) | 0.275 | 0.765 | 0.117 |
BL: birth length; BW: birth weight; BOFC: birth occipitofrontal circumference; PH: present height; PW: present weight; POFC: present occipitofrontal circumference, and SDS: standard deviation score.
For body features, the denominators indicate the number of patients examined for the presence or absence of each feature, and the numerators represent the number of patients assessed to be positive for that feature.
*
Mandatory criteria and †five clinical features utilized as selection criteria for Silver-Russell syndrome proposed by Netchine et al. [14].
Significant P-values(<0.05) are boldfaced.
a
Placental weight SDS is –1.68, –2.55, –2.24, –1.12, –2.14 and –0.60 in case 46, 47, 49, 50, 51 and 52, respectively; the placental weight SDS is –1.95±0.57 in five cases except for case 52 with mosaic upd(7)mat.
b
Maternal childbearing age is 32, 32, 33, 42, 32, 34, 33, 25 and 36 years in case 44–52, respectively.