Department of Pediatrics and Medical Genetics, British Columbia Children's Hospital, University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, Canada.
Am J Med Genet A. 2021 Jun;185(6):1816-1821. doi: 10.1002/ajmg.a.62172. Epub 2021 Mar 24.
Amyoplasia is a very specific, nongenetic clinically recognizable form of arthrogryposis, representing about one-third of individuals with arthrogryposis surviving the newborn period. There is a markedly increased number of individuals with Amyoplasia who are one of monozygotic (MZ) twins, with the other twin being normal. Thus, it would appear that Amyoplasia is definitely associated with and may be caused by an MZ twinning event. The twin-twin transfusion seen in MZ twins could play an etiologic role in producing Amyoplasia. In this article, Amyoplasia twinning is compared to twinning in other forms of arthrogryposis. The accompanying paper examines various types of MZ twinning (Hall, 2021). Amyoplasia is primarily associated with spontaneous MZ twinning.
先天性关节挛缩症是一种非常特殊的非遗传性临床可识别的关节挛缩症形式，约占新生儿期存活的关节挛缩症患者的三分之一。有明显更多的先天性关节挛缩症患者是单卵（MZ）双胞胎之一，另一个双胞胎是正常的。因此，先天性关节挛缩症似乎肯定与 MZ 孪生事件有关，并可能由其引起。MZ 双胞胎中出现的双胎-双胎输血可能在产生先天性关节挛缩症中起病因作用。在本文中，将先天性关节挛缩症孪生与其他类型的关节挛缩症孪生进行了比较。随附的论文研究了各种类型的 MZ 孪生（Hall，2021）。先天性关节挛缩症主要与自发性 MZ 孪生有关。
