title: Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.
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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Leuven, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.forename: Ph
authors.initials: P
authors.lastname: Moerman
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: P
authors.initials: P
authors.lastname: Braet
authors.forename: D
authors.initials: D
authors.lastname: Van Schoubroeck
authors.forename: F A
authors.initials: FA
authors.lastname: Van Assche
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D001176:Arthrogryposis / Q000235:genetics*; D001480:Basal Ganglia Diseases / Q000235:genetics; D001933:Brain Stem / Q000473:pathology; D020785:Central Nervous System Vascular Malformations / Q000235:genetics / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005333:Fetus; D005808:Genes, Recessive; D006801:Humans; D006832:Hydranencephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D009679:Nuclear Family; D013577:Syndrome; D014463:Ultrasonography