Table 3.
IP clinical data
| Type of defect | Number of cases** | Percentage of cases |
|---|---|---|
|
CNS defects
|
97
|
|
| Seizures |
39 |
40.2 |
| Mental retardation |
29 |
29.9 |
| Spastic paresis |
16 |
16.5 |
| Cerebral atrophy |
13 |
13.4 |
| Microcephaly |
11 |
11.3 |
| Hydrocephaly |
5 |
5.1 |
| Ischemic strokes* |
5 |
5.1 |
| White matter alterations* |
4 |
4.1 |
| Arachnoid cysts* |
3 |
3.1 |
| Cortico-subcortical atrophy* |
3 |
3.1 |
| Brain morphological alterations* |
2 |
2.1 |
|
Teeth defects
|
134
|
|
| Delayed primary dentition |
46 |
34.3 |
| Cone/peg shaped teeth |
30 |
22.3 |
| Delayed permanent dentition |
30 |
22.3 |
| Teeth dystrophy |
23 |
17.2 |
| Impactions |
23 |
17.2 |
|
Ophthalmologic defects
|
94
|
|
| Vision defects |
16 |
17 |
| Retinopathy |
15 |
15.9 |
| Retinal detachment |
8 |
8.5 |
| Microphthalmia |
6 |
6.4 |
| Retinal neuropathy |
6 |
6.4 |
| Retinal vascular visorders |
5 |
5.3 |
|
Hair defects
|
82
|
|
| Alopecia |
8 |
9.7 |
| Hypertrichosis |
3 |
3.6 |
|
Fingernail defects
|
45
|
|
| Nail dystrophy |
29 |
64 |
|
Developmental evolution
|
30
|
|
| Recurrent infections |
36 |
11.7 |
| Syndactyly of fingers or toes | 4 | 1.3 |
*Data obtained by Magnetic Resonance Imaging analysis in 17 IP cases.
**IP patients can have more than one defect affecting different organ systems.