Table 2 Ghent nosology
Examined population (n = 136) | Mutation identified (n = 84) | No mutation identified (n = 52) | |
|---|---|---|---|
Ghent nosology (%) | |||
Mitral valve prolapse | 66 | 74 | 54 |
Dilation or dissection of descending aorta | 4 | 5 | 4 |
Pectus carinatum | 43 | 45 | 40 |
Pectus excavatum requiring surgery | 9 | 12 | 4 |
Reduced upper to lower segment ratio | 19 | 21 | 15 |
Increased arm span to height ratio | 23 | 27 | 15 |
Wrist sign | 81 | 82 | 79 |
Thumb sign | 85 | 92 | 73 |
Scoliosis of > 20° or spondylolisthesis | 68 | 74 | 60 |
Severe scoliosis | 29 | 36 | 17 |
Reduced extension at the elbows | 6 | 10 | 0 |
Medial displacement of the medial malleolus causing pes planus | 46 | 51 | 37 |
Heel deformity | 20 | 19 | 21 |
Protrusion acetabulae | 0.7 | 1 | 0 |
Pectus excavatum of moderate severity | 22 | 26 | 15 |
Asymetric chest | 46 | 50 | 40 |
Joint hypermobility | 47 | 57 | 31 |
Highly arched palate with crowding of teeth | 60 | 65 | 50 |
Dolichocephaly | 21 | 24 | 15 |
Enophtalmos | 14 | 15 | 12 |
Downslanting palpebral fissure | 28 | 31 | 23 |
Malar hypoplasia | 13 | 17 | 6 |
Retrognathia | 40 | 48 | 29 |
Ectopia lentis | 21 | 32 | 4 |
Myopia over 3 diopter | 40 | 45 | 31 |
Abnormally flat cornea | 0.7 | 1 | 0 |
Increased axial length of globe | 2 | 4 | 0 |
Hypoplastic iris | 1.5 | 2 | 0 |
Spontaneous pneumothorax | 7 | 5 | 10 |
Apical blebs, bullae | 1.5 | 2 | 0 |
Lumbosacral dural ectasia | 3 | 2 | 4 |
Striae atrophicae (stretch marks) | 65 | 65 | 65 |