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Title: X-linked centronuclear myopathy as a cause of floppy baby
Authors: Donders, Gilbert Gerard Ghislain ×
Moerman, Philippe
Devlieger, Hugo
Spitz, Bernard
Van Assche, Frans Andre #
Issue Date: Jan-1987
Series Title: European Journal of Obstetrics & Gynecology and Reproductive Biology vol:24 issue:1 pages:33-8
Abstract: Two families with X-linked recessive centro-nuclear myopathy (XLR-CNM) are described. Evidence is accumulating that XLR-CNM forms a distinct entity, in contrast to the commoner later-onset forms. Family history often provides a clue to the diagnosis. Pregnancy is very often complicated by hydramnios and reduced fetal movements. We describe two families with five affected male babies who all died. An isolated case with severe fetal brady-arrhythmias in combination with acute increase in polyhydramnios is mentioned. The neonatal mortality in all recorded cases is 80 percent, with respiratory insufficiency as the cause of death. An attempt is made to establish early prenatal diagnosis and the possibility of carrier detection is briefly discussed.
ISSN: 0301-2115
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Woman - Miscellaneous (-)
Translational Cell & Tissue Research
Pathophysiology of Pregnancy Section (-)
Section Newborn (-)
Medicine Teaching Programs
Faculty of Medicine - miscellaneous
× corresponding author
# (joint) last author

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