Abstract
Beckwith-Wiedemann syndrome (BWS) is characterized in most reported cases by the triad of Exomphalous, Macroglossia and Gigantism (EMG syndrome). However, these major manifestations probably represent the extremes of this syndrome while cases with minor or time-dependent manifestations are usually not published. We present the variable expressions of BWS syndrome in 3 preterm infants.
The first had 75th percentile measurements at her birth (32 weeks) with macroglossia, large fontanel, ear creases and omphalocele. At corrected age of 7 months she was diagnosed to have hepatoblastoma.
The second had 60-75th percentile measurements at her 28 week birth. Dysmorphia was not noted at birth or during life. At corrected age of 2-1/2 months, she developed signs of puberty, and at 4 months, hepatomegaly. The liver histologically showed extensive hepatoblastoma. At autopsy adrenal cytomegaly, pancreatic islet cell hyperplasia and umbilical hernia were also noted to be present.
The third had 97% weight, 75% height and 30% OFC at his 32 week birth. No anomalies were present at birth. Four weeks after birth he developed an umbilical hernia, facial coarsening and macroglossia (causing difficulty in breathing and feeding) but no visceromegaly. By the age of 3 months, the clinical presentation was highly suggestive of BWS. Extensive investigation failed to show any metabolic or endocrine abnormality.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Chitayat, D., Rotschild, A., Ling, W. et al. BECKWITH WIEDEMANN SYNDROME PRESENTING IN PREMATURE INFANTS. Pediatr Res 21 (Suppl 4), 226 (1987). https://doi.org/10.1203/00006450-198704010-00357
Issue Date:
DOI: https://doi.org/10.1203/00006450-198704010-00357