Table 1 Characteristics of eight patients with spontaneous spinal cerebrospinal fluid leaks investigated for TGFBR2mutations
Age, sex | Site of CSF leak | Skeletal features | Cardiovascular features | Family history | |
|---|---|---|---|---|---|
1. | 14, F | Thoracic | Height 172 cm (95th perc.) High arched palate Joint hypermobility Arachnodactyly | Normal | Father with joint hypermobility |
2. | 22, F | Thoracic (multiple arachnoid cysts) | Height 183 cm (>95th perc.) Joint hypermobility Arachnodactyly | Normal | Brother with intracranial arachnoid cyst |
3. | 42, F | Cervical and thoracic | Height 173 cm (95th perc.) High arched palate Joint Hypermobility | Normal | Son with tall stature (191 cm) and pectus excavatum surgery |
4. | 60, F | Cervical, thoracic and lumbosacral (multiple arachnoid cysts) | Height 173 cm (95th perc.) Joint hypermobility Arachnodactyly | Cervical artery tortuosity | Multiple family members with tall stature (up to 198 cm) |
5. | 39, F | Cervical and thoracic | Normal | Cervical artery tortuosity | Cerebral aneurysm in two and aortic aneurysm in two first- or second-degree relatives |
6. | 45, M | Thoracic | Normal | Cervical artery tortuosity | Normal |
7. | 36, F | Thoracic (multiple arachnoid cysts) | Normal | Cervical artery tortuosity | Normal |
8. | 46, F | Thoracic (multiple arachnoid cysts) | High-arched palate Joint hypermobility Arachnodactyly | Thoracic aortic aneurysm | Normal |