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. CONCLUSION: The multiple ultrasonographic features of Fowler syndrome may not occur simultaneously and their severity may vary with gestational age. Copyright 2005 John Wiley & Sons, Ltd.
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. CONCLUSION: The multiple ultrasonographic features of Fowler syndrome may not occur simultaneously and their severity may vary with gestational age. Copyright 2005 John Wiley & Sons, Ltd.
Authors: Esther Meyer; Christopher Ricketts; Neil V Morgan; Mark R Morris; Shanaz Pasha; Louise J Tee; Fatimah Rahman; Anne Bazin; Bettina Bessières; Pierre Déchelotte; Mohamed T Yacoubi; Mudher Al-Adnani; Tamas Marton; David Tannahill; Richard C Trembath; Catherine Fallet-Bianco; Phillip Cox; Denise Williams; Eamonn R Maher Journal: Am J Hum Genet Date: 2010-03-04 Impact factor: 11.025