TY - JOUR
T1 - A standardized autopsy protocol for arthrogryposis (multiple congenital contractures)
AU - Oberg, Kerby C.
AU - Magaki, Shino
AU - Hall, Judith G.
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - 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.
AB - 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.
KW - arthrogryposis multiplex congenital
KW - autopsy
KW - pathoetiology
KW - protocol
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U2 - 10.1002/ajmg.c.31731
DO - 10.1002/ajmg.c.31731
M3 - Article
C2 - 31373772
SN - 1552-4868
VL - 181
SP - 474
EP - 478
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 3
ER -