Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-8kt4b Total loading time: 0 Render date: 2024-06-17T17:45:14.877Z Has data issue: false hasContentIssue false

Chapter 49 - Arthrogryposis Multiplex Congenita

from Arthrogryposis

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
Get access

Summary

Arthrogryposis multiplex congenita (AMC), or arthrogryposis, and multiple congenital contractures (MCC) are equivalent terms used to describe a phenotypic condition associated with multiple congenital non-progressive contractures in three or more body sites. Arthrogryposis is not a single disease but rather a clinical feature associated with more than 300 conditions [1]. The contractures develop secondary to fetal akinesia, i.e., in utero movement limitation, of varying etiology: muscle and/or neuronal pathology, connective tissue abnormalities, external limitations of in utero space, maternal diseases or exposures, compromised blood supply of placenta and/or fetus, metabolic disorders, and epigenetic influence. Children are born immobilized with fixed and thickened joints and decreased muscle mass. Early medical care may improve the condition over time [1, 2].

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Hall, JG, Agranovich, O, Pontén, E, van Bosse, HJP. Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17–19, 2014. Am J Med Genet A. 2015;167(6):1193–35.Google ScholarPubMed
Lowry, RB, Sibbald, B, Bedard, T, Hall, JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1057–61.CrossRefGoogle Scholar
Hall, JG, Aldinger, KA, Tanaka, KI. Amyoplasia revisited. Am J Med Genet A. 2014;164(3):700–30.CrossRefGoogle Scholar
Chen, H. Arthrogryposis. Emedicine Journal, March 2, 2015. Available at: http://emedicine.medscape.com/article/941917-overview Accessed March 31, 2019.Google Scholar
Hall, JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 2014;57(8):464–72.CrossRefGoogle ScholarPubMed
Bamshad, M, Van Heest, AE, Pleasure, D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91 Suppl 4:40–6.CrossRefGoogle ScholarPubMed
Fassier, A, Wicart, P, Dubousset, J, Seringe, R. Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity. J Child Orthop. 2009;3(5):383–90.CrossRefGoogle ScholarPubMed
Hall, JG. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes. Am J Med Genet A. 2014;164A(11):2775–92.Google ScholarPubMed
Hall, JG. Pena-Shokeir phenotype (Fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. 2009;85(8):677–94.Google Scholar
Roscam Abbing, PJ, Hageman, G, Willemse, J. CT-scanning of skeletal muscle in arthrogryposis multiplex congenita. Brain Dev. 1985;7(5):484–91.CrossRefGoogle ScholarPubMed
Filges, I, Hall, JG. Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis: Disorders of fetal movement – proposal of guidelines. Prenat Diagn. 2013;33(1):6174.Google Scholar
Vuopala, K, Leisti, J, Herva, R. Lethal arthrogryposis in Finland – a clinico-pathological study of 83 cases during thirteen years. Neuropediatrics. 1994;25(6):308–15.Google Scholar
Konya, MN, Elmas, M, Özdemir, Ç. Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses. Eklem Hastalik Cerrahisi. 2017;28(2):114–20.CrossRefGoogle ScholarPubMed
Dillon, ER, Bjornson, KF, Jaffe, KM, Hall, JG, Song, K. Ambulatory activity in youth with arthrogryposis: a cohort study. J Pediatr Orthop. 2009 Mar;29(2):214–17.Google Scholar
Sells, JM, Jaffe, KM, Hall, JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics. 1996;97(2):225–31.Google Scholar
Bevan, WP, Hall, JG, Bamshad, M, Staheli, LT, Jaffe, KM, Song, K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. 2007;27(5):594600.Google Scholar
Ma, L, Yu, X. Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia. Front Med. 2017;11(1):4852.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×