Table 4.
Distribution of phenotypic abnormalities according to FBN1 pathogenic variant status in patients diagnosed with Marfan syndrome based on revised the Ghent nosology
| FBN1 positive (n = 27)/mean ± SD |
FBN1negative (n = 16)/mean ± SD |
p | |
|---|---|---|---|
| Male/female | 12/15 | 10/6 | 0.310 |
| Age (years) | 11.20 ± 5.42 | 13.18 ± 4.30 | 0.134 |
| Height SDS | 1.88 ± 1.14 | 1.19 ± 1.99 | 0.215 |
| Family history | 4 | 2 | 0.345 |
| Cardiovascular abnormalities | 22 | 16 | 0.139 |
| Aortic root dilatation | 16 | 12 | 0.295 |
| Mitral valve prolapse | 20 | 6 | 0.006a |
| Mitral regurgitation | 18 | 5 | 0.024a |
| Tricuspid regurgitation | 7 | 4 | 0.946 |
| Aortic bicuspid valve | 3 | 1 | 0,358 |
| Ascending aortic aneurysm | 1 | 0 | 0.549 |
| Aortic dissection | 1 | 1 | 0.701 |
| Ocular abnormalities | 14 | 2 | 0.009a |
| Ectopia lentis | 14 | 2 | 0.009a |
| Skeletal abnormalities | 23 | 14 | 0.832 |
| Long limbs | 22 | 14 | 0.605 |
| Thumb sign | 20 | 7 | 0.046a |
| Wrist sign | 15 | 8 | 0.724 |
| Pectus deformities | 1 | 3 | 0.106 |
| Scoliosis | 0 | 1 | 0.372 |
| Hindfoot | 7 | 3 | 0.590 |
| Joint laxity | 1 | 1 | 0.109 |
| Facial abnormalities | 14 | 5 | 0.188 |
| Long and narrow head | 13 | 5 | 0.277 |
| High arched palate | 6 | 3 | 0.786 |
| Malar hypoplasia | 7 | 4 | 0.946 |
| Micro/retrognathia | 8 | 2 | 0.198 |
The Student t test (two-sided), chi-square, and Fischer’s exact test were used; p < 0.05 is considered significant
aAbnormalities are more common in FBN1 positive patients