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Article

Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype.

European journal of medical genetics - 1 Feb 2021

Brabbing-Goldstein Dana, Yaron Yuval, Reches Adi

Abstract excerpt

We describe a case of Beckwith-Wiedemann syndrome (BWS) demonstrating pre- and post-natal intra-familial variability. Our first encounter with the family occurred in the 1990s following the birth of 3 affected offspring. The first two pregnancies presented with exomphalos and elevated second trimester maternal serum alpha-fetoprotein (msAFP, 3.43 and 4.01 MOM, respectively) as well as elevated maternal human...

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Identifiers

PMID: 33421606
DOI: 10.1016/j.ejmg.2021.104137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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