title: Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery.
abstract: Beckwith-Wiedemann syndrome is an inherited disorder most commonly characterized by prenatal or postnatal overgrowth, macroglossia, omphalocele, unusual earlobe creases, and increased risk of neoplasia. Several reported cases of this syndrome have been prenatally diagnosed, but no report has described the occurrence of this syndrome in association with a single umbilical artery. We report a case in which prenatal sonographic examination demonstrated fetal overgrowth, macroglossia, and omphalocele together with a single umbilical artery; our prenatal diagnosis of Beckwith-Wiedemann syndrome was confirmed after birth of the infant. The possibility of this syndrome should be considered when performing a detailed sonographic examination of a fetus with a single umbilical artery.
authors.affiliation: Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Hamada
authors.forename: Y
authors.initials: Y
authors.lastname: Fujiki
authors.forename: M
authors.initials: M
authors.lastname: Obata-Yasuoka
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: N
authors.initials: N
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Kubo
mesh_terms: D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008260:Macroglossia / Q000000981:diagnostic imaging; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D014469:Umbilical Arteries / Q000002:abnormalities* / Q000000981:diagnostic imaging