Table 3 Phenotypic manifestations of the congenital scoliosis subjects with deleterious FBN1 missense variants.

From: Identification of novel FBN1 variations implicated in congenital scoliosis

Subject IDAge (year)GenderMCA (degree)Malformation involvedOther complication
VertebralCostalIntraspinalCardiovascularOcular 
XH11626M65SD, FL, LF, HNNNNShort neck
XH8107F48BNTethered cordNNN
XH15211M72H, W, FLNNNNPulmonary dysfunction
XH7312F40SDIntercostal cohesion of bilateral 2–5th ribsDiastematomyelia, hypoplastic spinal processesNNN
XH5792M104W, FF, SDBilateral 12th rib absencesyringomyelia, tethered cordNNJoint contractures
XH7661M80B, HNNNNN
XH90211M77SD, WNSyringomyeliaMitral insufficiencyNPectus carinatum
XH4411M50SD, FF, BBilateral 13th ribsDiastematomyelia, syringomyeliaNNN
  1. 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