Table 1 Characteristics of included studies
Author,Year | Sex | Age | Symptoms | Bone problems | Gene mutation/ Nucleotide Change | Surgery/complication | final outcome |
|---|---|---|---|---|---|---|---|
Feng et al. [13] 2021 | Male | 23 | Hip pain and stiffness | EFH, NNJ | WISP3/c.1064G > A | THA | Pain relief,restore joint function |
Female | 17 | Hip pain and stiffness | EFH, NNJ | WISP3/c.670dupA | THA | Pain relief,restore joint function | |
Female | 29 | Hip pain and stiffness,mild flexion deformity of knees | EFH, NNJ, EFC | WISP3/c.670dupA | THA/screw impinging onto the sciatic nerve,remission after revision surgery | Pain relief,restore joint function | |
Male | 26 | Hip pain and stiffness,mild valgus knee deformity | EFH, NNJ, EFC | WISP3/c.670dupA | THA | Pain relief,restore joint function | |
Male | 26 | Lower limb incomplete paraplegia | PY, KY | – | SD,PSF | Neurologically improved | |
Female | 13 | Hip and knee flexion contracture | EFH, NHJ, EFC, NKJ | – | Ilizarov technique | Restore joint function | |
Li et al. [14] 2019 | Male | 35 | Lower limb incomplete paraplegia associate with radiculopathy | PY, KY | WISP3/c.395G > A/p.C132Y | SD,PSF | Neurologically improved but muscle weakness did not improve |
Yang et al. [3] 2013 | Male | 44 | Pain in the left hip;lower limbs sciatica,hypoesthesia and hypermyotonia | EFH, NHJ, PY, KY | WISP3/c.840delT | THA,SD,PSF /Cerebrospinal fluid leakage | Neurologically improved，osseous fusion |
Ikegawa et al. [15] 1993 | Female | 32 | Bilateral coxalgia and waddling gait | EFH, NHJ | – | THA | Restore joint function |
Nakamura et al. [16] 1993 | Male | 19 | Lower limb incomplete paraplegia associate with radiculopathy | PY, KY,NHJ | – | SD | Neurologically improved |
Gao et al. [17] 2013 | Female | 17 | Hip pain and stiffness | EFH, NHJ | – | THA | Pain relief, restore joint function |
Xiao et al. [12] 2018 | Male | 17 | hip and knee pain and stiffness | EFH, NHJ, EFC, NKJ | WISP3/c.1064_1065dupGT and c.643 + 2 T > C | Ilizarov technique | Restore joint function |
Zhou et al. [18] 2007 | Female | 19 | Back pian,hip pain and stiffness | EFH, NHJ,PY | WISP3/c.840delT and 1000 T > C | THA | Restore joint function |
Cassa et al. [19] 2016 | Male | 34 | Hip and knee flexion contracture,back pain | EFH, NHJ, EFC, NKJ, PY | WISP3/p.Cys265LeufsX31 | THA,TKA,SD | Restore joint function |
current study 2022 | Male | 31 | Back pain,weakness and numbness in lower limbs | PY, KY,EFH, NHJ | WISP3/c.1064_1065dupGT and c.643 + 2 T > C | SD,PSF | Pain relief,neurologically improved，osseous fusion |