Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
29 Aug 2023
Historique:
received: 01 08 2023
revised: 22 08 2023
accepted: 27 08 2023
medline: 11 9 2023
pubmed: 9 9 2023
entrez: 9 9 2023
Statut: epublish

Résumé

Beckwith-Wiedemann Syndrome (BWS) is an imprinting disorder, which manifests by overgrowth and predisposition to embryonal tumors. The evidence on the relationship between maternal complications such as HELLP (hemolysis, elevated liver enzymes, and low platelet count) and preeclampsia and the development of BWS in offspring is scarce. A comprehensive clinical evaluation, with genetic testing focused on screening for mutations in the CDKN1C gene, which is commonly associated with BWS, was conducted in a newborn diagnosed with BWS born to a mother with a history of preeclampsia and HELLP syndrome. The case study revealed typical clinical manifestations of BWS in the newborn, including hemihyperplasia, macroglossia, midfacial hypoplasia, omphalocele, and hypoglycemia. Surprisingly, the infant also exhibited fetal growth restriction, a finding less commonly observed in BWS cases. Genetic analysis, however, showed no mutations in the

Identifiants

pubmed: 37686168
pii: ijms241713360
doi: 10.3390/ijms241713360
pmc: PMC10487691
pii:
doi:

Substances chimiques

CDKN1C protein, human 0
Cyclin-Dependent Kinase Inhibitor p57 0

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Jakub Staniczek (J)

Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.

Maisa Manasar-Dyrbuś (M)

Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.

Agnieszka Drosdzol-Cop (A)

Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.

Rafał Stojko (R)

Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.

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Classifications MeSH