Table 2.
Patients (n = 17) | Phenotype A (n = 12) % | Phenotype B (n = 5) % | Total % | |
---|---|---|---|---|
Orthopedic/X-ray features | ||||
Dens dysplasia | 13 | 91.7 | 40 | 76.5 |
Platyspondilia | 13 | 66.7 | 100 | 76.5 |
Intervertebral disc abnormalities | 9 | 41.7 | 80 | 52.9 |
Kyphosis | 11 | 58.3 | 80 | 64.7 |
Scoliosis | 11 | 58.3 | 80 | 64.7 |
Lordosis | 1 | – | 20 | 5.9 |
Carpal tunnel syndrome | 10 | 50 | 80 | 58.8 |
Hip dysplasia | 10 | 58.3 | 60 | 58.8 |
Genu valgum | 8 | 33.3 | 80 | 47.1 |
Foot abnormalities | 9 | 50 | 60 | 52.9 |
MRI features | ||||
Enlargement of Virchow-Robin PVSs | 12 | 83.3 | 40 | 70.6 |
Subarachnoid CSF space enlargement and 3rd ventricle enlargement | 10 | 75 | 20 | 58.8 |
White matter signal abnormalities | 9 | 58.3 | 40 | 52.9 |
Periodontoid tissue thickening | 6 | 41.7 | 20 | 35.3 |
Pituitary sella abnormalities | 6 | 41.7 | 20 | 35.3 |
Enlarged cisterna magna | 3 | 25 | 0 | 17.6 |
Craniosynostosis | 2 | 16.7 | 0 | 11.8 |
Spinal stenosis | 2 | 8.3 | 20 | 11.8 |
Hyperostosis | 2 | 16.7 | 0 | 11.8 |