Table 1 Clinical features in SRS and their frequencies in the different molecular subgroups.(*combined from different studies by [59])
From: Silver-Russell syndrome: genetic basis and molecular genetic testing
clinical features | total RSS n = 143[58] | UPD(7)mat[59] | ICR1 hypomethylation carriers[59] | idiopathic RSS[59] |
|---|---|---|---|---|
growth parameters | Â | Â | Â | n = 129 |
birth weight (SD) | 94% (< 3 Perc.) | -2.79 (n = 37) | -3.55 SD (n = 58) | -3.1 |
birth length (SD) | Â | - 3.1 (n = 32) | -4.38 SD (n = 57) | -4.1 |
birth OFC (SD) | Â | - 1.26 (n = 28) | -1.35 SD (n = 54) | -1.5 |
postnatal growth retardation (SD) | 99% | -3.37 (n = 38) | -3.41 (n = 49) | -3.6 |
clinical features | Â | Â | Â | n = 388 |
relative macrocephaly | 64% | 92% | 91% (n = 59) | 68.4% |
muscular hypotonia | 45% | 69.2% (n = 13) | - | 45% |
asymmetry | 51% | 60% (n = 30) | 77% (n = 57) | 53.1% |
clinodactyly V | 68% | 82% (n = 34) | 78% (n = 40) | 69.9% |
squeaky voice | 22% | Â | Â | Â |
developmental delay | 37% | 43% (n = 39) | 20.5% (n = 31) | 32.2% |
craniofacial features triangular face | 79% | 97% (n = 34) | 76% (n = 59) | 78.4% |
prominent forehead | Â | 68% | 88% (n = 34) | 72.4% |
downturned corners of the mouth | 46% | 50% (n = 22) | 55% (n = 9) | 57.3% |
micrognathia | Â | 73% (n = 15) | 55% (n = 9) | 44% |
ear anomalies | 53% | 78.6% (n = 14) | Â | 40.3% |
teeth anomalies | 28% | 64% (n = 14) | 0% (n = 7) | 28% |