Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: Further evidence for autosomal recessive inheritance of hydranencephaly, fowler type
Article first published online: 4 JAN 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 108, Issue 1, pages 41–44, 15 February 2002
How to Cite
Witters, I., Moerman, Ph., Devriendt, K., Braet, P., Van Schoubroeck, D., Van Assche, F.A. and Fryns, J.P. (2002), Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: Further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. Am. J. Med. Genet., 108: 41–44. doi: 10.1002/ajmg.10208
- Issue published online: 16 JAN 2002
- Article first published online: 4 JAN 2002
- Manuscript Accepted: 7 OCT 2001
- Manuscript Received: 10 NOV 2000
- fetal akinesia deformation sequence;
- hydranencephaly-Fowler type;
- autosomal recessive inheritance
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. © 2002 Wiley-Liss, Inc.