title: Prenatal diagnosis of Dandy-Walker malformation associated with distal limb deficiencies.
abstract: We report the perinatal findings of a 23 gestational-week fetus with Dandy-Walker malformation (DWM), ventriculomegaly, symmetrical transverse limb deficiencies, hypertelorism, frontal bossing, low-set ears, and a depressed nasal bridge. The karyotype was 46,XX. We believe that this combination is significant. Concomitant DWM and symmetrical distal limb deficiencies may represent a new entity that awaits more new cases for further delineation.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: S C
authors.initials: SC
authors.lastname: Chien
authors.forename: S R
authors.initials: SR
authors.lastname: Chern
authors.forename: C Y
authors.initials: CY
authors.lastname: Tzen
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000002:abnormalities; D002552:Cerebral Ventricles / Q000033:anatomy & histology / Q000000981:diagnostic imaging / Q000196:embryology; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007866:Leg / Q000002:abnormalities* / Q000196:embryology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal