TY  - JOUR
AU  - Liu, Gang
AU  - Chen, Jia
AU  - Zhou, Yangzhong
AU  - Zuo, Yuzhi
AU  - Liu, Sen
AU  - Chen, Weisheng
AU  - Wu, Zhihong
AU  - Wu, Nan
PY  - 2017
TI  - The genetic implication of scoliosis in osteogenesis imperfecta: a review
JF  - Journal of Spine Surgery; Vol 3, No 4 (December 30, 2017): Journal of Spine Surgery
Y2  - 2017
KW  - 
N2  - Osteogenesis imperfecta (OI) is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26–74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis. In this review, we summarize the etiology of scoliosis in OI, especially the genetic studies of different types. We aim to provide a systematic review of the genetic etiology and clinical suggestions of scoliosis in OI.
UR  - https://jss.amegroups.org/article/view/3961