Table 6 Connective tissue dysplasia in patients with NF1 microdeletions.
| No. of patients* | Hyper‐extensible skin | Excessive wrinkled skin on palms | Deep palmar/plantar creases | Soft, fleshy palms/soles | Loose joints | MVP | Aortic dissection | Umbilical hernia | Inguinal hernia | Other | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Wu et al28 | 1 | Soft tissue hypertrophy (arm, back) | ||||||||||||||||||||
| Leppig et al17 | 1 | 1 | ||||||||||||||||||||
| Upadhyaya et al6 | 1 | 1 | ||||||||||||||||||||
| Leppig et al16 | 4 | 1 | 1 | 3 | 3 | 1 | Friable aorta; dislocation of radii | |||||||||||||||
| Wu et al29 | 1 | 1 | ||||||||||||||||||||
| Van Asperen et al26 | 2 | 1 | 1 | |||||||||||||||||||
| Ruggieri et al 2000 | 1 | Multiple coronary artery aneurysms | ||||||||||||||||||||
| Oktenli et al20 | 1 | 1 | 1 | |||||||||||||||||||
| Venturin et al27 | 2 | 1 | 1 | |||||||||||||||||||
| Our patients | 5 | 5 | 3 | 1 | 4 | 5 | 3 | 1 | ||||||||||||||
| Total | 19 | 6 | 4 | 2 | 7 | 11 | 6 | 1 | 2 | 1 |
*Number of patients with described connective tissue abnormality.