title: Early ultrasonographic changes in Fowler syndrome features and review of the literature.
abstract: BACKGROUND
  Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. The natural progression of the ultrasonographic features of Fowler syndrome has never been described.
  
  
  METHODS
  Case report and review of the literature.
  
  
  RESULTS
  A primiparous woman with a negative ultrasound at 11 weeks of pregnancy was noted at 15 weeks to have fetal nuchal thickening, generalized skin edema, prominent lateral ventricles, akinesia with arthrogryposis, and pterygia. At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated.
  
  
  CONCLUSIONS
  The multiple ultrasonographic features of Fowler syndrome may not occur simultaneously and their severity may vary with gestational age.
authors.affiliation: Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Ihab M
authors.initials: IM
authors.lastname: Usta
authors.forename: Antoine A
authors.initials: AA
authors.lastname: AbuMusa
authors.forename: Nabil G
authors.initials: NG
authors.lastname: Khoury
authors.forename: Anwar H
authors.initials: AH
authors.lastname: Nassar
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000025:Abortion, Eugenic; D001176:Arthrogryposis / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D006832:Hydranencephaly / Q000000981:diagnostic imaging*; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011256:Pregnancy Outcome; D013577:Syndrome; D016216:Ultrasonography, Prenatal