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Eur J Med Genet. 2014 Aug;57(8):464-72. doi: 10.1016/j.ejmg.2014.03.008. Epub 2014 Apr 3.

Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles.

Author information

1
Departments of Medical Genetics and Pediatrics, University of British Columbia and the BC Children's Hospital Vancouver, BC, Canada. Electronic address: jhall@cw.bc.ca.

Abstract

Arthrogryposis has been the term used to describe multiple congenital contractures for over a century. It is a descriptive term and present in over 400 specific conditions. Responsible gene abnormalities have been found for more than 150 specific types of arthrogryposis. Decreased fetal movement is present in all affected individuals which leads to a variety of secondary deformations. Decreased fetal movement (fetal akinesia) is associated with increased connective tissue around the immobilized joint, skin dimpling overlying the immobilized joint, disuse atrophy of the muscles that mobilize the joint and abnormal surface of the joint depending on the immobilized position. Other frequently observed features include: micrognathia, mildly shortened limbs, intrauterine growth restriction, pulmonary hypoplasia and short and/or immature gut. Primary etiologies include neuropathic processes; myopathic processes; end-plate abnormalities; maternal illness, trauma and drugs; limitation of fetal space; vascular compromise; and metabolic disorders to the developing embryo/fetus.

KEYWORDS:

Arthrogryposis; Compression; Deformation; Drugs; Fetal akinesia; Maternal illness; Multiple congenital contractures; Myopathy; Neuropathy; Prenatal diagnosis

PMID:
24704792
DOI:
10.1016/j.ejmg.2014.03.008
[Indexed for MEDLINE]

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