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Prenatal sonographic diagnosis of beckwith‐wiedemann syndrome in association with a single umbilical artery
Author(s) -
Hamada Hiromi,
Fujiki Yutaka,
ObataYasuoka Mana,
Watanabe Hideki,
Yamada Naoki,
Kubo Takeshi
Publication year - 2001
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.10017
Subject(s) - omphalocele , single umbilical artery , medicine , macroglossia , beckwith–wiedemann syndrome , prenatal diagnosis , fetus , umbilical artery , obstetrics , pregnancy , pathology , tongue , gene expression , genetics , biochemistry , chemistry , gene , dna methylation , biology
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. © 2001 John Wiley & Sons, Inc. J Clin Ultrasound 29:535–538, 2001.