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Title: Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita
Authors: Moerman, Philippe ×
Fryns, Jean-Pierre
Van Dijck, H
Lauweryns, J M #
Issue Date: Jan-1985
Series Title: Virchows Archiv. A, Pathological anatomy and histopathology vol:408 issue:1 pages:43-8
Abstract: Two unrelated patients with severe arthrogryposis multiplex congenita (AMC) who died perinatally, are presented. In both, postmortem examination revealed an intact nervous system and striking dystrophic muscle changes, consistent with congenital muscular dystrophy (CMD). Few similar cases have been reported before, but since the condition is not well known, it seems probable that in the past many have been labeled as mere multiple malformations. The possibility of an underlying muscular disorder, either primary myopathic or neurogenic should be considered in any patient with early lethal AMC. Our findings confirm that the fetal akinesia-arthrogryposis sequence is a nonspecific clinical syndrome resulting from various causes of muscular inactivity in utero. The main objective of this report is to provide reasonable guidelines on how to approach the problem of classification. We favor a pathogenetic approach, depending upon careful sampling of the central nervous system and skeletal muscles at autopsy.
ISSN: 0174-7398
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Faculty of Medicine - miscellaneous
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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