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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Published on: August 25, 2014

Recognition and management of the infant with Beckwith-Wiedemann Syndrome

Pamela S Spivey1, Wanda T Bradshaw

  • 1Levine Children's Hospital, Department of Neonatology, Charlotte, North Carolina 28204, USA. pamspivey43@yahoo.com

Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses
|December 17, 2009
PubMed

Insights

Beckwith-Wiedemann Syndrome (BWS) is a common infant overgrowth condition. Early recognition is vital due to associated childhood cancer risks and distinct genetic subgroups.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Neonatology

Background:

  • Beckwith-Wiedemann Syndrome (BWS) is the most frequent overgrowth disorder in infants.
  • Key features include macroglossia, abdominal wall defects, and macrosomia.
  • BWS presents significant implications for neonatal care and long-term health.

Purpose of the Study:

  • To provide a comprehensive overview of Beckwith-Wiedemann Syndrome.
  • To detail the etiology, clinical manifestations, and diagnostic approaches.
  • To discuss management strategies and family support for BWS patients.

Main Methods:

  • Review of existing literature on Beckwith-Wiedemann Syndrome.
  • Analysis of genetic classifications: familial, sporadic, and chromosomal abnormalities.
  • Synthesis of diagnostic criteria and clinical management guidelines.

Main Results:

  • Identification of three primary genetic subgroups in BWS patients.
  • Correlation between BWS and an increased incidence of childhood malignant tumors.
  • Established characteristic physical findings aiding in neonatal recognition.

Conclusions:

  • Early diagnosis of BWS in neonates is crucial for timely intervention.
  • Understanding the genetic basis informs risk stratification and management.
  • Comprehensive care, including family support, is essential for affected infants.

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