Table 1.
Patient Number | Variant | Gender | Age of Onset | Diagnosis | Vertebral Malformations | Other skeletal Malformations or Deformities | Cardiac Abnormalities | Spinal Canal Deformities | Visceral Abnormalities |
---|---|---|---|---|---|---|---|---|---|
SCO1905P0038 | c.464_465delAC | M | 13 | CS | T12 butterfly vertebra, T9-T10 failure of segmentation | None | None | None | None |
SCO2003P2127 | c.1394A>G | F | 21 | CS | None | Fusion of 4th and 5th ribs, 12th ribs absent | Postoperative of patent ductus arteriosus | None | None |
SCO2003P0372 | c.1879G>A | F | 8 | CS | L2 Hemivertebra, L2-L3 fusion | None | None | None | None |
SCO1908P0053 | c.1955G>T | F | 1 | CS | T11, T12 segmented wedge vertebrae | None | None | None | None |
SCO2003P0541 | c.1955G>T | F | 7 | CS | T7-T11 failure of segmentation | Chest deformity | None | Diastematomyelia | None |
SCO1907P0150 | c.49C>T | F | 11 | AIS | None | None | Ventricular septal defect | None | None |
SCO2003P0632 | c.353C>T | F | 12 | AIS | None | None | None | None | None |
SCO2003P2288 | c.2290G>A | F | 14 | AIS | None | None | None | None | None |
SCO2003P2237 | c.2384G>A | F | 13 | AIS | None | None | None | None | None |
M, male; F, female; CS, congenital scoliosis; AIS, adolescent idiopathic scoliosis.