A standardized autopsy protocol for arthrogryposis (multiple congenital contractures). Issue 3 (2nd August 2019)

• Record Type: Journal Article
• Authors: Oberg, Kerby C.; Magaki, Shino; Hall, Judith G.
• Other Names: Dahan‐Oliel Noémi guestEditor.; Hall Judith guestEditor.
• Is Part Of: American journal of medical genetics. Volume 181:Issue 3(2019)
• Page Start: 474
• Page End: 478
• Publication Date: 2019-08-02
• Subjects: arthrogryposis multiplex congenital -- autopsy -- pathoetiology -- protocol; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31731
• Languages: English
• ISSNs: 1552-4868

Abstract

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.