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Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
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Related Experiment Video

Updated: Apr 15, 2026

Author Spotlight: Advancements in Stem Cell-Derived Vascularized Organoids and Optimized Isolation of Wharton's Jelly for Enhanced MSC Production
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The crying sign: the winking umbilical cord.

Aisling M Smith1, David B Healy1, C Anthony Ryan1

  • 1Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.

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Summary

A preterm infant with Beckwith-Wiedemann syndrome presented with an umbilical stump anomaly and abdominal wall defect. This case highlights the importance of careful assessment for rare presentations of this genetic disorder.

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Area of Science:

  • Genetics
  • Neonatalogy
  • Developmental Biology

Background:

  • Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder.
  • Prenatal diagnosis of BWS can be challenging, with subtle or absent early ultrasound findings.
  • Umbilical cord abnormalities can be associated with abdominal wall defects.

Observation:

  • A preterm infant (34 weeks gestation) with features suggestive of BWS had a large umbilical stump.
  • Ultrasound scans revealed mild polyhydramnios and macrosomia, but no obvious fetal abnormalities or omphalocele.
  • Clinical examination identified an abdominal wall defect with umbilical bowel protrusion, and elevated alpha-fetoprotein levels.

Findings:

  • The infant was diagnosed with Beckwith-Wiedemann syndrome.
  • Conservative management was initially advised for the abdominal wall defect.
  • Delayed umbilical cord detachment occurred, and a large umbilical hernia persisted post-discharge.

Implications:

  • This case underscores the variability in prenatal presentation of BWS.
  • It emphasizes the need for thorough clinical evaluation of umbilical stump anomalies and abdominal wall defects in neonates.
  • Early recognition and management of associated conditions like umbilical hernias are crucial in infants with BWS.