Obstetrics And Gynecology Ultrasound Group Ultrasound Medical Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Lei Zhu
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引用次数: 0
Abstract
Arthrogryposis multiplex congenita (AMC) is a clinical syndrome with complex etiology. It is a non-progressive syndrome characterized by joint deformity and stiffness, muscle atrophy, reduction of skin folds and subcutaneous tissue, and contracture of periarticular tissue, and can affect children in whom there are at least 2 or more joint contractures in multiple areas. AMC may be divided into amyoplasia, distal arthrogryposis, central nervous system and neuromuscular diseases which can be diagnosed by prenatal ultrasound and genetic testing, as well as by clinical evaluation, genetic examination, neuromuscular electrophysiological examination, imaging examination and special laboratory examination after birth. The goal of treatment is to improve the self-care ability of children, and the methods mainly include rehabilitation therapy, splint support and orthotic fixation, as well as orthopedic surgery. The Obstetrics and Gynecology Ultrasound Group of the Ultrasound Branch of Chinese Medical Association, Clinical Genetics Group of the Medical Genetics Branch of Chinese Medical Association, and the Genetic Disease Prevention and Control Group of Birth Defects Prevention and Control Professional Committee of Chinese Preventive Medicine Association have organized experts to develop this consensus through multiple rounds of discussions, with an aim to provide reference for clinicians to better understand and standardize the diagnosis and treatment of this disease, and promote the development of related industries.
期刊介绍:
Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry.
Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.