Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

D Jurkiewicz, A Skórka, E Ciara, M Kugaudo… - Clinical …, 2020 - journals.lww.com
Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder
characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised …

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

F Brioude, I Netchine, F Praz, M Le Jule… - Human …, 2015 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …

Beckwith–Wiedemann syndrome: multiple molecular mechanisms

T Enklaar, BU Zabel, D Prawitt - Expert reviews in molecular …, 2006 - cambridge.org
Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth condition with an
increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal …

A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

PN Kantaputra, R Sittiwangkul… - American Journal of …, 2013 - Wiley Online Library
We report on two daughters and a son of a Thai family who were affected with BWS. Their
clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions …

CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms

V Romanelli, A Belinchon… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by
macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in …

Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

LG Best, KA Duffy, AM George… - American Journal of …, 2023 - Wiley Online Library
Abstract Beckwith‐Wiedemann Spectrum (BWSp) is an overgrowth and cancer
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …

[引用][C] CDKN1C mutations and genital anomalies

HI Welsh, TL Stockley, N Parkinson… - American Journal of …, 2012 - Wiley Online Library
We read with interest the article by Romanelli et al.[2010] describing eight patients with
Beckwith–Wiedemann syndrome (BWS) and novel CDKN1C mutations. Their patients had …

Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives

MM Cohen - Pediatric and Developmental Pathology, 2005 - Springer
Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele,
umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann …

[HTML][HTML] Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports

A de Vasconcelos Gaspar, M Branco, E Galhano… - Radiology Case …, 2022 - Elsevier
Beckwith-Wiedemann syndrome (BWS) is a rare genetic disease, characterized by
macrosomia, congenital malformations and tumor predisposition, associated with genetic …

[引用][C] Familial Beckwith–Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele

A Percesepe, E Bertucci, P Ferrari… - … in Affiliation With the …, 2008 - Wiley Online Library
Omphalocele is a midline anterior abdominal wall defect occurring in about 1 in 5000 live
births (Stoll et al., 2001). It is currently diagnosed by real-time ultrasonography at the end of …