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Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):474-478. doi: 10.1002/ajmg.c.31731. Epub 2019 Aug 2.

A standardized autopsy protocol for arthrogryposis (multiple congenital contractures).

Author information

1
Department of Pathology and Human Anatomy, Loma Linda University, Loma Linda, California.
2
Department of Medical Genetics and Pediatrics, University of British Columbia; British Columbia Children's Hospital, Child and Family Research Institute, Vancouver, British Columbia, Canada.

Abstract

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.

KEYWORDS:

arthrogryposis multiplex congenital; autopsy; pathoetiology; protocol

PMID:
31373772
DOI:
10.1002/ajmg.c.31731

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