Prenatal imaging throughout gestation in Beckwith‐Wiedemann syndrome
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DOI: 10.1002/pd.5440
Abstract: Prenatal occurrence and timing of appearance of associated features in Beckwith‐Wiedemann syndrome (BWS) are unknown. We reviewed our BWS patients with serial fetal imaging and correlated these with postnatal findings. read more here.
Keywords: prenatal imaging; imaging throughout; gestation beckwith; beckwith wiedemann ... See more keywords
Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature
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DOI: 10.1007/s00381-017-3397-y
Abstract: PurposeEctopic adrenal cortical adenoma in the spinal region is extremely rare. The majority of cases of ectopic adrenocortical tissue are found along the path of embryonic migration within the urogenital tract. Beckwith-Wiedemann syndrome (BWS) is… read more here.
Keywords: adrenal cortical; case; beckwith wiedemann; wiedemann syndrome ... See more keywords
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome
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DOI: 10.1007/s10815-018-1228-z
Abstract: ObjectivesIn vitro fertilization (IVF) has been linked to an increased risk for imprinting disorders in offspring. The data so far have predominantly been retrospective, comparing the rate of IVF conceptions in affected patients with controls. We… read more here.
Keywords: pregnancies conceived; ivf; beckwith wiedemann; wiedemann syndrome ... See more keywords
Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric surgery"
DOI: 10.1016/j.jpedsurg.2018.02.041
Abstract: PURPOSE The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital. METHODS A retrospective review of infants evaluated at Texas Children's… read more here.
Keywords: surgical outcomes; outcomes patients; patients beckwith; beckwith wiedemann ... See more keywords
Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome.
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DOI: 10.1097/mph.0000000000002593
Abstract: Beckwith-Wiedemann syndrome (BWS) is an epigenetic overgrowth disorder and cancer predisposition syndrome caused by imprinting defects of chromosome 11p15.5-11p15.4. BWS should be considered in children with atypical presentations of embryonal tumors regardless of clinical phenotype.… read more here.
Keywords: wiedemann syndrome; leading diagnosis; concurrent hepatoblastoma; beckwith wiedemann ... See more keywords
Improved Quality of Life for Children With Beckwith–Wiedemann Syndrome Following Tongue Reduction Surgery
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DOI: 10.1097/scs.0000000000004823
Abstract: Abstract Macroglossia is observed in the majority of patients with Beckwith–Wiedemann syndrome (BWS), a congenital condition with characteristic anomalies. In addition, sleep disordered breathing (SDB) associated with macroglossia has occasionally been noted in BWS patients,… read more here.
Keywords: reduction; tongue reduction; beckwith wiedemann; reduction surgery ... See more keywords
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann Syndrome due to loss of methylation at imprinting control region 2.
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DOI: 10.1101/mcs.a006115
Abstract: Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth disorder caused by epigenetic alterations on chromosome 11p15.5. Most molecular changes are sporadic and are thought to occur in a mosaic pattern. Thereby, the distribution of affected cells… read more here.
Keywords: mosaicism; loss methylation; beckwith wiedemann; wiedemann syndrome ... See more keywords
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
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DOI: 10.1111/cge.14193
Abstract: The prevalence of Beckwith–Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART‐BWSp patients reported so far display imprinting center 2 loss‐of‐methylations (IC2‐LoM), versus 50% of… read more here.
Keywords: art bwsp; bwsp patients; wiedemann spectrum; beckwith wiedemann ... See more keywords
Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome
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DOI: 10.1136/bcr-2021-243415
Abstract: We describe a unique case of Beckwith-Wiedemann syndrome (BWS). A 29-year-old woman with ultrasound and clinical findings, specific to BWS is described. Important insights gained from this study are as follows: (1) quad test may… read more here.
Keywords: quad test; beckwith wiedemann; wiedemann syndrome; placental mesenchymal ... See more keywords
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay
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DOI: 10.1136/jmedgenet-2020-107401
Abstract: Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-Wiedemann syndrome (BWS), while gain-of-function variants in the gene’s PCNA binding motif cause a growth-restricted condition called IMAGe syndrome. We report on a boy with a… read more here.
Keywords: developmental delay; image; cause; cdkn1c ... See more keywords
Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
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DOI: 10.1186/s13148-019-0649-6
Abstract: Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of… read more here.
Keywords: methylation; molecular confirmation; beckwith wiedemann; wiedemann syndrome ... See more keywords