title: The Dandy-Walker malformation prenatal sonographic diagnosis and its clinical significance.
abstract: To determine the usual sonographic findings and clinical significance of the Dandy-Walker malformation (DWM) identified in utero, we reviewed seven proven cases diagnosed by prenatal ultrasound during a 6-year period. All patients demonstrated complete or partial absence of the cerebellar vermis and a posterior fossa cyst. Other central nervous system (CNS) findings included hydrocephalus (five cases) and agenesis of the corpus callosum (one case). Extra-CNS abnormalities were prospectively identified in 3 of 4 fetuses with multiple anomalies. Chromosomal analysis was performed on all four fetuses with multiple extra-CNS anomalies, yielding 2 abnormal karyotypes (trisomy 18 and mosaic trisomy 13). Fetal mortality was directly dependent on the presence of extra-CNS anomalies. Five fetuses ultimately died, including all four with multiple extra-CNS anomalies. The remaining two patients are alive at 1.5 and 6 years of age. We conclude that DWM has a distinctive sonographic appearance that can be identified by prenatal ultrasound and that identification of DWM should initiate a careful search for concurrent anomalies as well as consideration of chromosomal analysis.
authors.affiliation: Department of Radiology, University of Washington Hospital, Seattle.
authors.forename: D A
authors.initials: DA
authors.lastname: Nyberg
authors.forename: D R
authors.initials: DR
authors.lastname: Cyr
authors.forename: L A
authors.initials: LA
authors.lastname: Mack
authors.forename: J
authors.initials: J
authors.lastname: Fitzsimmons
authors.forename: D
authors.initials: D
authors.lastname: Hickok
authors.forename: B S
authors.initials: BS
authors.lastname: Mahony
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D000328:Adult; D003616:Dandy-Walker Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography