1/2. Early ultrasonographic changes in Fowler syndrome features and review of the literature.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.- - - - - - - - - - ranking = 1keywords = basal ganglion, ganglion (Clic here for more details about this article) |
2/2. Bilateral optic nerve aplasia associated with hydranencephaly.A case of bilateral optic nerve aplasia (ONA) associated with hydranencephaly and other multiple congenital anomalies in an infant is reported. Its occurrence in an offspring of a consanguineous union may implicate an autosomal recessive transmission. A brief review of ocular embryology is presented in relation to the possible pathogenesis of bilateral ONA. Bilateral ONA is most likely to be due to failure of the retinal ganglion cells to develop, consequently, the optic disc and nerve, and the retinal blood vessels are absent. Bilateral ONA is rare, and is associated with major CNS anomalies, and with other multiple, often severe congenital malformations. Bilateral ONA appears to be a distinct entity, independent from its unilateral counterpart and can be adequately diagnosed on clinical grounds.- - - - - - - - - - ranking = 0.32214340480443keywords = ganglion (Clic here for more details about this article) |