TABLE 2.
Clinical features of patients with type-1 NF1 microdeletion.
|
Frequency in patients with |
Frequency in NF1 |
|||||||
| type-1 NF1 microdeletions (%) | non-deleted patients (%) | |||||||
| System involvement/manifestations | Clinical features | This study (n = 12) | Kehrer-Sawatzki et al., 2017 (n = 29) | Pasmant et al., 2010 (n = 44) | Zhang et al., 2015 (n = 7) | Bianchessi et al., 2015 (n = 11) | This study (n = 33) | Kehrer-Sawatzki et al., 2017 (n = 29) |
| Dysmorphic features | Facial dysmorphism | 67 | 90 | 54.8 | 43 | n.d. | 0 | n.d. |
| Hypertelorism | 58 | 86 | n.d. | n.d. | n.d. | 18 | n.d. | |
| Facial asymmetry | 25 | 28 | n.d. | n.d. | n.d. | 6 | 8 | |
| Coarse face | 67 | 59 | n.d. | n.d. | n.d. | 0 | n.d. | |
| Broad neck | 8 | 31 | n.d. | n.d. | n.d. | 0 | n.d. | |
| Large hands and feet | 67 | 46 | n.d. | n.d. | n.d. | 0 | n.d. | |
| Skin manifestations | Café-au-lait spots | 100 | 93 | 20.8 | 100 | 100 | 91 | 86-99 |
| Axillary and inguinal freckling | 83 | 86 | 86.4 | 57 | 72.7 | 52 | 86-89 | |
| Excess soft tissue in hands and feet | 33 | 50 | n.d. | n.d. | n.d. | 0 | n.d. | |
| Subcutaneous neurofibromas | 58 | 76 | 37.2-41.8 | 29 | 45.5# | 30 | 48 | |
| Cutaneous neurofibromas | 8 | 86 | 15.4-48.7 | 57 | 45.5# | 18 | 38-84 | |
| Plexiform neurofibromas | 17 | 76 | 0.6 | 29 | 27.3 | 6 | 15-54 | |
| Education and behavior problems | SDiCD | 75 | 48 | n.d. | 14 | 36.4 | 3 | 17 |
| General learning difficulties | 75 | 45 | 85.7 | n.d. | 18.2 | 15 | 31-47 | |
| Speech difficulties | 67 | 48 | n.d. | 29 | 0 | 3 | 20-55 | |
| IQ < 70 | 8 | 38 | n.d. | 14 | 36.4 | 0 | 7-8 | |
| ADHD | 17 | 33 | n.d. | n.d. | 0 | 6 | 38-49 | |
| Skeletal manifestations | Skeletal anomalies | 92 | 76 | 31+ | 14 | 45.5+ | 33 | 31 |
| Scoliosis | 42 | 43 | 31 | 0 | 9.1 | 21 | 10-28 | |
| Pectus excavatum | 33 | 31 | n.d. | n.d. | n.d. | 9 | 12-50 | |
| Bone cysts | 8 | 50 | n.d. | n.d. | 0 | 0 | 1 | |
| Hyperflexibility of joints | 8 | 72 | n.d. | n.d. | n.d. | 6 | n.d. | |
| Pes cavus | n.d. | 17 | n.d. | n.d. | n.d. | 3 | n.d. | |
| Macrocephaly | 58 | 39 | 11.5 | 14 | 45.5 | 9 | 24-45 | |
| Neurological manifestations | Muscular hypotonia | 25 | 45 | n.d. | n.d. | n.d. | 12 | 27 |
| Epilepsy | 0 | 7 | n.d. | n.d. | 0 | 3 | 4-13 | |
| MPNST | 17 | 21 | 7.1 | 0 | * | 0 | 2-7 | |
| Spinal neurofibromas | 17 | 64 | n.d. | n.d. | n.d. | 3 | 24-30 | |
| T2 hyperintensities | 75 | 45 | n.d. | 29 | n.d. | 39 | 34-79 | |
| Ocular manifestations | Visual disturbance | 17 | n.d. | n.d. | 14 | n.d. | 15 | n.d. |
| Lisch nodules | 25 | 93 | 40 | 14 | 45.5 | 21 | 63-93 | |
| Strabismus | 17 | NA | n.d. | 14 | n.d. | 0 | NA | |
| Optic pathway gliomas | 17 | 19 | 15 | n.d. | 0 | 12 | 11-19 | |
| Developmental problem | Tall-for-age stature | 58 | 46 | 22.2 | n.d. | n.d. | 0 | n.d. |
| Heart problems | Congenital heart defects | 0 | 29 | n.d. | n.d. | n.d. | 0 | 2 |
n.d., not determined; NA, not assessed or no data available; #no straightforward information (only referenced as neurofibroma); *it is not clear from the manuscript (it was mentioned that 18.2% of patient had tumors); + it may be higher (there were data for scoliosis and macrocephaly only); SDiCD, significant delay in cognitive development; MPNST, malignant peripheral nerve sheath tumors; ADHD, attention deficit hyperactivity disorder.