A standardized autopsy protocol for arthrogryposis (multiple congenital contractures)

被引:4
|
作者
Oberg, Kerby C. [1 ]
Magaki, Shino [1 ]
Hall, Judith G. [2 ,3 ]
机构
[1] Loma Linda Univ, Dept Pathol & Human Anat, 11234 Anderson St, Loma Linda, CA 92354 USA
[2] Univ British Columbia, Dept Med Genet & Pediat, Vancouver, BC, Canada
[3] British Columbia Childrens Hosp, Child & Family Res Inst, Vancouver, BC, Canada
关键词
arthrogryposis multiplex congenital; autopsy; pathoetiology; protocol; SUDDEN-INFANT-DEATH; RATES; PLEA;
D O I
10.1002/ajmg.c.31731
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
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页码:474 / 478
页数:5
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