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Title: Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type
Authors: Witters, Ingrid ×
Moerman, Philippe
Devriendt, Koenraad
Braet, P
Van Schoubroeck, Dominique
Van Assche, Frans Andre
Fryns, Jean-Pierre #
Issue Date: Feb-2002
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:108 issue:1 pages:41-44
Abstract: We report a 13-week-old female fetus with early onset fetal akinesia deformation sequence (FADS) and hydranencephaly. In a previous pregnancy, the same ultrasonographic findings were noted at 13 weeks. Fetopathological examination of both female fetuses confirmed FADS with severe arthogryposis, multiple pterygia, and muscular hypoplasia. Neuropathological examination showed massive cystic dilatation of the cerebral ventricles (hydranencephaly) with calcification of the basal ganglion and brain stem and a proliferative vasculopathy throughout the central nervous system. The findings in the two female siblings document the earliest echographic diagnosis of hydranencephaly, Fowler type, and this observation further supports autosomal recessive inheritance of this distinct type of hydranencephaly.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Woman - Miscellaneous (-)
Translational Cell & Tissue Research
Clinical Genetics
Faculty of Medicine - miscellaneous
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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