title: The crying sign: the winking umbilical cord.
abstract: A preterm baby girl, born at 34 weeks gestation, with features of Beckwith-Wiedemann syndrome was noted to have a relatively large umbilical stump. No fetal abnormalities had been detected on anatomy scan at 28 weeks and only mild polyhydramnios and macrosomia were noted on a 32-week ultrasound scan. Although there was no obvious omphalocoele, clinical assessment of the umbilical cord revealed an abdominal wall defect through which bowel would protrude into the umbilicus when the infant was crying. In keeping with an abdominal wall defect α-fetoprotein was found to be elevated. Surgical consultation advised conservative management. Subsequently, detachment of the umbilical cord occurred 1 week postdischarge and a large umbilical hernia persists. Genetic analysis confirmed a diagnosis of Beckwith-Wiedemann syndrome.
authors.affiliation: Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.
authors.forename: Aisling M
authors.initials: AM
authors.lastname: Smith
authors.affiliation: Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.
authors.forename: David B
authors.initials: DB
authors.lastname: Healy
authors.affiliation: Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.
authors.forename: C Anthony
authors.initials: CA
authors.lastname: Ryan
authors.affiliation: Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.
authors.forename: Eugene M
authors.initials: EM
authors.lastname: Dempsey
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000097:blood / Q000175:diagnosis*; D003448:Crying; D005260:Female; D006554:Hernia, Umbilical / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D000509:alpha-Fetoproteins