Table 3.
Phenotypic manifestations of the congenital scoliosis subjects with deleterious FBN1 missense variants.
| Subject ID | Age (year) | Gender | MCA (degree) | Malformation involved | Other complication | ||||
|---|---|---|---|---|---|---|---|---|---|
| Vertebral | Costal | Intraspinal | Cardiovascular | Ocular | |||||
| XH1162 | 6 | M | 65 | SD, FL, LF, H | N | N | N | N | Short neck |
| XH810 | 7 | F | 48 | B | N | Tethered cord | N | N | N |
| XH152 | 11 | M | 72 | H, W, FL | N | N | N | N | Pulmonary dysfunction |
| XH73 | 12 | F | 40 | SD | Intercostal cohesion of bilateral 2–5th ribs | Diastematomyelia, hypoplastic spinal processes | N | N | N |
| XH579 | 2 | M | 104 | W, FF, SD | Bilateral 12th rib absence | syringomyelia, tethered cord | N | N | Joint contractures |
| XH766 | 1 | M | 80 | B, H | N | N | N | N | N |
| XH902 | 11 | M | 77 | SD, W | N | Syringomyelia | Mitral insufficiency | N | Pectus carinatum |
| XH441 | 1 | M | 50 | SD, FF, B | Bilateral 13th ribs | Diastematomyelia, syringomyelia | N | N | N |
MCA maximal Cobb angle, M male, F female, SD segmentation defect, FL fused lamina, LF lamina fissure, H hemivertebrae, B butterfly-vertebrae, W wedge-shaped vertebrae, FF formation failure of vertebrae, N not present