A Case of Familial CDKN1C ‐Related Beckwith‐Wiedemann Syndrome

Prenatal Diagnosis 2026 Open access

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Authors: Lyndsay Creswell, Pranav Pandya, Sara L. Hillman, Hannah Goldman, Sahar Mansour, Alice Gardham
DOI: 10.1002/pd.70075
Cited by: 1
References: 5

Abstract

We report a case of a male fetus born to an unrelated couple with a fetal phenotype of an omphalocele and inferior vermian hypoplasia. Prenatal trio exome sequencing identified a maternally inherited pathogenic CDKN1C variant consistent with Beckwith-Wiedemann syndrome (BWS). This finding prompted targeted testing of the proband's sibling, who was confirmed to carry the same variant. Posterior fossa abnormalities have been reported in cases with BWS, and specifically in children with the CDKN1C loss-of-function variant.

Fields of Study & Subjects

Genetic Syndromes and Imprinting Congenital Anomalies and Fetal Surgery Urological Disorders and Treatments

Publication details

Journal / source
Prenatal Diagnosis
Publisher
Wiley
Volume
46
Issue
3
Pages
458–462
Publication date
23 January 2026
Language
EN