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Review
. 2023 Sep 25;49(1):127.
doi: 10.1186/s13052-023-01530-8.

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature

Pierandrea Elefante  1 , Beatrice Spedicati  2 , Flavio Faletra  3 , Laura Pignata  4 , Flavia Cerrato  4 , Andrea Riccio  4   5 , Egidio Barbi  2   6 , Luigi Memo  7 , Laura Travan  8
Affiliations
Review

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature

Pierandrea Elefante et al. Ital J Pediatr. .

Abstract

Background: Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle with the cases of siblings of affected patients, since the prevalence of the condition in twins (1:1000) is ten times higher than in singletones (1:10000).

Case presentation: We report the case of a premature twin patient who during her follow-up develops a clinical phenotype compatible with BWS, genetically confirmed in blood. However, the methylation alteration characteristic of the condition was also found in the almost phenotypically normal sibling, making it challening her management.

Conclusion: Through our case report we highlight how the diagnosis of BWS can be made without any prenatal suspicion and we propose a review of the literature on how to manage siblings of affected patients in twinning situation.

Keywords: Beckwith-wiedemann syndrome; Case report; Imprinting disorders; Twinning.

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Conflict of interest statement

All the authors have read and understood the “Italian Journal of Pediatrics” policy on the declaration of interest and declare that we have no competing interests.

Figures

Fig. 1
Fig. 1
(A) ST Profile view: note the macroglossia and the ear lobe creases, two typical signs of BWS. While macroglossia is usually evident, ear creases might be missed if not specifically searched. (B) ST: Wide glabellar nevus simplex, reducible umbilical hernia and a scar in right hypocondrium due to the surgical excision of the adrenal neuroblastoma
Fig. 2
Fig. 2
(A) Less affected sibling (FT) presenting normal facies with no macroglossia but a nuanced glabellar nevus simplex. (B) FT: Hemangioma of the right hand and wrist. Hemangiomas are known to be clinical features associated with BWS [6] although not being part of the clinical diagnostic score
See this image and copyright information in PMC

References

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