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arthrogryposis multiplex congenita

 

Definition: limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse etiology that may result from changes in spinal cord, muscle, or connective tissue. Several forms exist, autosomal dominant [MIM*108110, 108120, 108130, 108140, 108145, 108200], recessive [MIM*208080, 208081, 208085, 208100, 208150, 208155, 208200], and X-linked [MIM*301830]

Synonym(s): amyoplasia congenita

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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