Department of Pathology and Human Anatomy, Loma Linda University, Loma Linda, California.
Department of Medical Genetics and Pediatrics, University of British Columbia; British Columbia Children's Hospital, Child and Family Research Institute, Vancouver, British Columbia, Canada.
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):474-478. doi: 10.1002/ajmg.c.31731. Epub 2019 Aug 2.
Arthrogryposis multiplex congenita (AMC) describes disorders with multiple joint contractures that arise from neurological, neuromuscular, or mechanical origin. Although impaired fetal movement is the typical clinical presentation, the etiology underlying this phenotype for a number of conditions remains unknown. In an effort to better characterize and define the etiologies underlying these disorders, we recommend a standardized autopsy protocol that will allow for appropriate diagnosis and a methodical approach for examination that will facilitate subsequent study by investigators across disciplines. To further support investigation, we have also established an AMC autopsy registry to bank tissue obtained at autopsy for subsequent study.
先天性多发性关节挛缩症（AMC）描述了多种关节挛缩的疾病，这些疾病源自神经、神经肌肉或机械原因。尽管胎儿运动受限是其典型的临床表现，但对于许多情况下的这种表型的病因仍然未知。为了更好地描述和定义这些疾病的病因，我们建议采用标准化的尸检方案，以便进行适当的诊断，并为检查提供系统的方法，从而为跨学科研究人员提供便利。为了进一步支持研究，我们还建立了 AMC 尸检登记处，以储存尸检获得的组织，以备将来研究。
